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
KCNA5	3741	broad.mit.edu	37	12	5153695	5153695	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5153695G>T	ENST00000252321.3	+	1	611	c.382G>T	c.(382-384)Ggg>Tgg	p.G128W		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	128						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G128W(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CAACATCTCCGGGCTGCGCTT	0.682000													7	102					5.68852e-11	8.38596e-11	1	1	0
HAPLN1	1404	broad.mit.edu	37	5	82937365	82937365	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82937365C>A	ENST00000274341.4	-	5	1865	c.1015G>T	c.(1015-1017)Gat>Tat	p.D339Y		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	339	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.D339Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGCTTTTTATCTGGGAAACCC	0.512000													12	251					0.00136819	0.0014693	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131866287	131866287	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:131866287G>T	ENST00000359827.3	-	18	4307	c.3345C>A	c.(3343-3345)ccC>ccA	p.P1115P	PLXNA4_ENST00000321063.4_Silent_p.P1115P			Q9HCM2	PLXA4_HUMAN	plexin A4	1115	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.P1115Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAAACTCCTCGGGCCTCTCGG	0.577000													35	145					3.03874e-20	5.53646e-20	1	1	0
SLC7A1	6541	broad.mit.edu	37	13	30110070	30110070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:30110070C>A	ENST00000380752.5	-	3	642	c.256G>T	c.(256-258)Gag>Tag	p.E86*		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	86					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	p.E86*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCACCAAACTCGCCATAGCAC	0.602000													24	76					1.39806e-14	2.28756e-14	1	1	0
SMC2	10592	broad.mit.edu	37	9	106889740	106889740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:106889740G>T	ENST00000286398.7	+	20	3057	c.2769G>T	c.(2767-2769)gaG>gaT	p.E923D	SMC2_ENST00000374787.3_Missense_Mutation_p.E923D|SMC2_ENST00000374793.3_Missense_Mutation_p.E923D|SMC2_ENST00000303219.8_Missense_Mutation_p.E923D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	923					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.E923D(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATAAACGGGAGGCTGAAGATG	0.343000													14	127					6.72482e-11	9.86629e-11	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995493	140995493	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:140995493A>T	ENST00000285879.4	+	4	2589	c.2303A>T	c.(2302-2304)gAg>gTg	p.E768V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	768							protein binding	p.E768V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCCTCCTGAGGGGCCTGCT	0.532000										HNSCC(15;0.026)			41	301					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59820497	59820497	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:59820497T>A	ENST00000259008.2	-	16	2525		c.e16-2		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.?(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GAGCTCCATCTTAAACAACAG	0.353000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					43	100					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186266034	186266034	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:186266034C>G	ENST00000445192.2	+	2	72	c.27C>G	c.(25-27)taC>taG	p.Y9*	PRG4_ENST00000367486.3_Nonsense_Mutation_p.Y9*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.Y9*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.Y9*|PRG4_ENST00000367485.4_Nonsense_Mutation_p.Y9*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	9					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.Y9*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTCCCATTTACCTGTTGTTGC	0.368000													10	100					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321213	52321213	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:52321213G>T	ENST00000356297.4	-	17	3071	c.2971C>A	c.(2971-2973)Cac>Aac	p.H991N	PXDNL_ENST00000543296.1_Missense_Mutation_p.H991N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	991					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.H190N(1)|p.H991N(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCTCCCAGTGGGGGTTCAGG	0.642000													12	30					2.27111e-07	2.89758e-07	1	1	0
RNF10	9921	broad.mit.edu	37	12	121004691	121004691	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:121004691G>C	ENST00000325954.4	+	13	2410	c.1949G>C	c.(1948-1950)tGc>tCc	p.C650S	RNF10_ENST00000413266.2_Missense_Mutation_p.C655S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	650					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.C650S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTATACCTGCTCCTCTGAT	0.507000													44	205					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24810530	24810530	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:24810530G>T	ENST00000314328.9	+	17	3578	c.3293G>T	c.(3292-3294)cGa>cTa	p.R1098L	SPECC1L_ENST00000541492.1_Missense_Mutation_p.R1059L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R1098L|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1098	CH.				cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CGGACTGAACGACCCGACTGG	0.557000													5	73					6.5536e-12	9.97252e-12	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274424	51274424	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:51274424G>T	ENST00000270590.4	+	1	704	c.567G>T	c.(565-567)acG>acT	p.T189T		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	189						integral to plasma membrane	N-formyl peptide receptor activity	p.T189T(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGGCTGTACGCACTGCTACT	0.572000													9	84					0.00448238	0.0047329	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25777118	25777118	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:25777118T>A	ENST00000377905.4	+	10	1318	c.1199T>A	c.(1198-1200)gTg>gAg	p.V400E	SLC17A4_ENST00000397076.2_Missense_Mutation_p.V198E|SLC17A4_ENST00000439485.2_Missense_Mutation_p.V170E	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	400					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.V400E(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACCTTCTTGGTGCTGTCTTCT	0.532000													62	168					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108589794	108589794	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:108589794C>T	ENST00000332082.4	+	3	1003	c.185C>T	c.(184-186)gCt>gTt	p.A62V	WSCD2_ENST00000547525.1_Missense_Mutation_p.A62V|WSCD2_ENST00000549903.1_Missense_Mutation_p.A62V|WSCD2_ENST00000261400.3_Missense_Mutation_p.A62V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	62						integral to membrane		p.A62V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTGAGGGTGCTGAGCTGTCC	0.627000													48	388					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877313	125877313	+	Silent	SNP	C	C	A	rs113434283		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:125877313C>A	ENST00000393434.2	-	3	646	c.297G>T	c.(295-297)cgG>cgT	p.R99R	ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000273450.3_Silent_p.R109R|ALDH1L1_ENST00000472186.1_Silent_p.R99R|ALDH1L1_ENST00000452905.2_Silent_p.R99R|ALDH1L1_ENST00000393431.2_Silent_p.R99R	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	99	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.R99R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGAGCCATGCCGGGGGGCAC	0.597000													11	32					6.40141e-05	7.27191e-05	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143235915	143235915	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:143235915C>T	ENST00000513000.1	-	9	806	c.372_splice	c.e9-1	p.V125_splice	INPP4B_ENST00000508116.1_Splice_Site_p.V125_splice|INPP4B_ENST00000308502.4_Splice_Site_p.V125_splice|INPP4B_ENST00000509777.1_Splice_Site_p.V125_splice|INPP4B_ENST00000262992.4_Splice_Site_p.V125_splice	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	125	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.V125I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CTGGTTCGAACCTGTGGAGAA	0.448000													14	143					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50529760	50529760	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:50529760G>A	ENST00000317551.6	-	7	853	c.729C>T	c.(727-729)atC>atT	p.I243I	CERS5_ENST00000422340.2_Silent_p.I185I	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	243	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.I243I(1)									GTAGACACATGATCAGAGTTC	0.428000													14	229					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49951180	49951180	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49951180T>G	ENST00000257981.6	+	15	2956	c.2696T>G	c.(2695-2697)cTg>cGg	p.L899R		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	899					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.L899R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGGGAAGGACTGCAGTCACTT	0.667000													18	83					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87101777	87101777	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:87101777G>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA														p.Y146_G147>*(1)									GGCTACCTATGGGCCTCGAGG	0.318000													13	133					4.93089e-13	7.79297e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113308147	113308147	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113308147A>T	ENST00000297405.5	-	54	8773	c.8529T>A	c.(8527-8529)tgT>tgA	p.C2843*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.C2803*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.C2674*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.C2773*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2843	Sushi 18.					integral to membrane|plasma membrane				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						AACCAGGATTACATTGATATA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	68					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168114871	168114871	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:168114871G>T	ENST00000409728.1	+	11	2003	c.1914G>T	c.(1912-1914)caG>caT	p.Q638H	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.Q605H|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.Q638H|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.Q383H|XIRP2_ENST00000409756.2_Missense_Mutation_p.Q605H	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2715					actin cytoskeleton organization	cell junction	actin binding	p.Q638H(1)		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						CTTATCTACAGTCCACCCATG	0.373000													22	184					3.62473e-10	5.15182e-10	1	1	0
THEM4	117145	broad.mit.edu	37	1	151867517	151867517	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:151867517C>T	ENST00000368814.3	-	2	602	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	THEM4_ENST00000489410.1_Missense_Mutation_p.E85K	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	85					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		p.E85K(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAATCCATTCAGTAGGTGTA	0.388000													19	298					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123694639	123694639	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:123694639G>A	ENST00000606320.1	-	8	1364	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	MPHOSPH9_ENST00000302349.5_Silent_p.F234F|MPHOSPH9_ENST00000541076.2_Silent_p.F356F|MPHOSPH9_ENST00000392425.3_Silent_p.F234F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	234					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACAATGATATGAACGTCTTCT	0.453000													12	131					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133342122	133342122	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:133342122C>G	ENST00000372394.1	+	7	912	c.431C>G	c.(430-432)cCc>cGc	p.P144R	ASS1_ENST00000372393.3_Missense_Mutation_p.P144R|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Missense_Mutation_p.P144R			P00966	ASSY_HUMAN	argininosuccinate synthase 1	144					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.P144R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GTCATTGCTCCCTGGAGGATG	0.612000													13	86					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56866543	56866543	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:56866543G>A	ENST00000520220.2	+	8	1001	c.727_splice	c.e8+1	p.G243_splice	LYN_ENST00000519728.1_Splice_Site_p.G264_splice	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	264					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.G264S(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGTCTGGATGGGTAAGTGTGC	0.527000													20	145					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91818090	91818090	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:91818090C>T	ENST00000370425.3	-	16	2048	c.1950G>A	c.(1948-1950)caG>caA	p.Q650Q	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.Q329Q	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	650	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q650Q(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACCAATCATCTGTAGAATAT	0.323000													30	85					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18048061	18048061	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:18048061G>A	ENST00000250018.2	-	6	1341	c.779C>T	c.(778-780)tCa>tTa	p.S260L	TPH1_ENST00000341556.2_Missense_Mutation_p.S260L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	260					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.S260L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAAGGGATCTGAACTGTGTCT	0.393000													12	118					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93755486	93755486	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:93755486G>T	ENST00000535334.1	+	4	791	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	ARL13B_ENST00000394222.3_Missense_Mutation_p.D193Y|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.D193Y|ARL13B_ENST00000303097.7_Missense_Mutation_p.D86Y	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	193							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TATTGCAAGAGACTTTGATGC	0.403000													5	111					0.0215528	0.0221851	1	1	0
MAP7D2	256714	broad.mit.edu	37	X	20062499	20062499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:20062499C>A	ENST00000379651.3	-	6	757	c.739G>T	c.(739-741)Gga>Tga	p.G247*	MAP7D2_ENST00000452324.3_Nonsense_Mutation_p.G195*|MAP7D2_ENST00000443379.3_Nonsense_Mutation_p.G202*|MAP7D2_ENST00000543767.1_Nonsense_Mutation_p.G132*|MAP7D2_ENST00000379643.5_Nonsense_Mutation_p.G288*	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	247								p.G288*(1)|p.G247*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GCCTCTCCTCCTGAAAGGGCT	0.488000													61	88					3.76628e-20	6.85185e-20	1	1	0
GPR83	10888	broad.mit.edu	37	11	94129655	94129655	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:94129655C>A	ENST00000243673.2	-	2	594	c.423G>T	c.(421-423)aaG>aaT	p.K141N	GPR83_ENST00000539203.2_Intron	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	141						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.K141N(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCACATGCCCTTCCCAAATA	0.552000													33	111					9.65021e-13	1.50386e-12	1	1	0
IGHV1-24	28467	broad.mit.edu	37	14	106733399	106733399	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:106733399C>T	ENST00000390610.2	-	0	155																											AGGCCCCAGGCTTCTTCACCT	0.577000													66	229					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45400285	45400285	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:45400285G>T	ENST00000389039.6	-	13	1919	c.1534C>A	c.(1534-1536)Cgg>Agg	p.R512R	DUOX2_ENST00000603300.1_Silent_p.R512R			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	512	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.R512R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCACCATCCCGCAGCCGTACA	0.622000													22	158					2.21704e-12	3.42025e-12	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208390214	208390214	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:208390214C>A	ENST00000367033.3	-	2	1811	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	352	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.D352Y(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGCAGAGTCATCGGGCGGG	0.587000													27	95					3.73988e-18	6.59379e-18	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79234289	79234289	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:79234289T>A	ENST00000428286.1	-	18	9329	c.8129A>T	c.(8128-8130)tAc>tTc	p.Y2710F	PRUNE2_ENST00000223609.6_Intron|PRUNE2_ENST00000376718.3_Missense_Mutation_p.Y3068F|PRUNE2_ENST00000443509.2_Missense_Mutation_p.Y317F|PRUNE2_ENST00000466266.2_Intron			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3068					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGATCATTGTAAAGGCAGCT	0.413000													3	25					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939970	22939970	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:22939970T>A	ENST00000397104.3	-	6	2360	c.2361A>T	c.(2359-2361)tcA>tcT	p.S787S						zinc finger protein 99									p.S787S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGTAAGGTGTGAGGACTGCT	0.368000													23	98					0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128813857	128813857	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:128813857C>A	ENST00000315150.5	-	2	660	c.360G>T	c.(358-360)gcG>gcT	p.A120A	RAB43_ENST00000476465.1_Silent_p.A120A|RAB43_ENST00000393308.1_Silent_p.A120A|RAB43_ENST00000393305.1_Silent_p.A120A|ISY1-RAB43_ENST00000418265.1_3'UTR|RAB43_ENST00000393307.1_Silent_p.A120A|RAB43_ENST00000393304.1_Silent_p.A120A	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	120					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.G121C(1)		kidney(2)|liver(1)|lung(2)|skin(1)	6						TGTTGGAGCCCGCATACTTCC	0.552000													14	148					5.01169e-05	5.73299e-05	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20766631	20766631	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:20766631A>T	ENST00000359062.3	+	3	1306	c.1266A>T	c.(1264-1266)ccA>ccT	p.P422P	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	422					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.P422P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTGCTATTCCAAAGGTAGGTA	0.418000													21	82					0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983814	142983814	+	Silent	SNP	G	G	A	rs146576406		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142983814G>A	ENST00000359333.3	+	3	1056	c.543G>A	c.(541-543)gcG>gcA	p.A181A	TMEM139_ENST00000409541.1_Silent_p.A181A|TMEM139_ENST00000409102.1_Silent_p.A181A|TMEM139_ENST00000409244.1_Silent_p.A181A|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000410004.1_Silent_p.A181A	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	181						integral to membrane		p.A181A(1)		endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					AGAGCTTGGCGGCAGTCCCCA	0.567000													13	144					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37253043	37253043	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:37253043C>A	ENST00000310758.4	-	12	1498	c.851G>T	c.(850-852)cGg>cTg	p.R284L	ELMO1_ENST00000442504.1_Missense_Mutation_p.R284L|ELMO1_ENST00000448602.1_Missense_Mutation_p.R284L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	284					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R284L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTTGATGGCCCGCTGGGCTCG	0.448000													11	45					1.58986e-06	1.94651e-06	1	1	0
MAGEH1	28986	broad.mit.edu	37	X	55479419	55479419	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:55479419G>C	ENST00000342972.1	+	1	882	c.612G>C	c.(610-612)gaG>gaC	p.E204D		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	204					apoptosis			p.E204D(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						ATGATGCAGAGGTTGAGGCTA	0.493000													19	48					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28058003	28058003	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:28058003T>A	ENST00000263181.6	-	14	2447	c.2157A>T	c.(2155-2157)acA>acT	p.T719T		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	719					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.T719T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTAAGGTTACTGTAGACGGAT	0.353000													20	127					0	0	1	0	0
MNAT1	4331	broad.mit.edu	37	14	61346468	61346468	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:61346468G>C	ENST00000261245.4	+	7	825	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q	MNAT1_ENST00000539616.2_Missense_Mutation_p.E200Q|RP11-193F5.1_ENST00000553946.1_RNA	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	242					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		TCACAAGCTTGAAGAAGCTCT	0.373000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					6	114					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100183082	100183082	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:100183082C>A	ENST00000414213.1	-	11	1722		c.e11-1		FRRS1_ENST00000287474.5_Splice_Site			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1						electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		ATTAAGGCACCTACAAGTGAG	0.413000													13	121					7.93312e-07	9.82539e-07	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63483590	63483590	+	Silent	SNP	T	T	A	rs116187090	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:63483590T>A	ENST00000322893.7	-	2	424	c.156A>T	c.(154-156)ggA>ggT	p.G52G	KCNH5_ENST00000394964.2_5'UTR|KCNH5_ENST00000420622.2_Silent_p.G52G|KCNH5_ENST00000394968.1_5'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	52	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCGATGATATCCAGAGAGTT	0.368000													11	182					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131201331	131201331	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:131201331C>A	ENST00000337057.3	-	13	2030	c.1849G>T	c.(1849-1851)Gta>Tta	p.V617L	EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.V16L|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Missense_Mutation_p.V16L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V617L|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	617	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.V617L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCCCTTCTACTCTCAAGGAA	0.388000													6	49					8.12818e-05	9.18253e-05	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106522623	106522623	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:106522623A>G	ENST00000359195.3	+	7	2910	c.2600A>G	c.(2599-2601)tAt>tGt	p.Y867C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.Y867C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.Y867C|PIK3CG_ENST00000466738.1_3'UTR	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	867	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.Y867C(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCCTGCCATATGGTTGCATT	0.373000													12	89					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42038087	42038087	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:42038087G>T	ENST00000220809.4	-	10	1262	c.1006C>A	c.(1006-1008)Ccc>Acc	p.P336T	PLAT_ENST00000524009.1_Missense_Mutation_p.P247T|PLAT_ENST00000429089.2_Missense_Mutation_p.P336T|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.P210T|PLAT_ENST00000352041.3_Missense_Mutation_p.P290T|PLAT_ENST00000519510.1_Missense_Mutation_p.P273T	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	336	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.P336N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGCTCTCCGGGCGACCTCCTG	0.622000													21	205					6.44725e-10	9.07939e-10	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182121	140182121	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140182121G>T	ENST00000522353.2	+	1	1339	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D447Y|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.D447Y(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGGCCGACGTGAACGA	0.662000													56	247					2.27459e-33	4.63987e-33	1	1	0
PAX6	5080	broad.mit.edu	37	11	31822341	31822341	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:31822341C>T	ENST00000419022.1	-	8	931	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	PAX6_ENST00000241001.8_Missense_Mutation_p.G141S|PAX6_ENST00000379111.2_Missense_Mutation_p.G141S|PAX6_ENST00000379107.2_Missense_Mutation_p.G155S|PAX6_ENST00000379115.4_Missense_Mutation_p.G155S|PAX6_ENST00000379123.5_Missense_Mutation_p.G141S|PAX6_ENST00000379132.3_Missense_Mutation_p.G141S|PAX6_ENST00000379129.2_Missense_Mutation_p.G155S	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	141	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.G155S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCATACATGCCGTCTGCGCCC	0.517000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				16	125					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248994	20248994	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20248994C>A	ENST00000315957.4	+	1	594	c.513C>A	c.(511-513)ccC>ccA	p.P171P		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P171P(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGGGCCCAATGAGTTAG	0.498000													43	444					7.05121e-23	1.32703e-22	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	125834246	125834246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:125834246C>A	ENST00000299308.3	+	2	309	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	101						integral to membrane		p.L101I(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCCCAGGAGCTCCTGTTGAC	0.498000													40	175					8.16904e-11	1.19566e-10	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158644206	158644206	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158644206A>T	ENST00000368148.3	-	10	1443	c.1263T>A	c.(1261-1263)tcT>tcA	p.S421S	SPTA1_ENST00000368147.3_Silent_p.S421S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	421					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S421*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTCATCGTAAGAGTCAATCT	0.453000													43	350					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160849175	160849175	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:160849175T>A	ENST00000326245.3	-	7	830	c.715A>T	c.(715-717)Agg>Tgg	p.R239W	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	239	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.R239W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTAAATACCCTGAACTGAACA	0.498000													13	259					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772270	99772270	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:99772270C>G	ENST00000370185.3	+	7	2493	c.1996C>G	c.(1996-1998)Ctc>Gtc	p.L666V	LPPR4_ENST00000457765.1_Missense_Mutation_p.L608V|LPPR4_ENST00000370184.1_Missense_Mutation_p.L508V	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		666							phosphatidate phosphatase activity	p.L666V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCTCAACGATCTCAACAGGGA	0.512000													6	54					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28959104	28959104	+	Silent	SNP	G	G	T	rs146170931		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:28959104G>T	ENST00000282397.4	-	14	2285	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	FLT1_ENST00000541932.1_Silent_p.T678T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	678	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.T678T(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGTCTAAAGTGGTGGAACTGC	0.453000													68	168					1.15062e-32	2.33354e-32	1	1	0
CYP2C8	1558	broad.mit.edu	37	10	96828972	96828972	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:96828972G>A	ENST00000535898.1	-	1	282	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000371270.3_Intron	NM_001198854.1	NP_001185783.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	0					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATTGGCTGGAGGAACATAAGG	0.368000													7	90					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110976020	110976020	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:110976020T>C	ENST00000354300.3	-	5	1073	c.785A>G	c.(784-786)gAg>gGg	p.E262G		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	262	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity	p.E262G(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						ATAGGCCAGCTCATGAGCTTG	0.393000													11	89					0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120097704	120097704	+	Splice_Site	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:120097704A>G	ENST00000328965.4	+	3	1059	c.547_splice	c.e3+1	p.Q182_splice	OAF_ENST00000531220.1_Splice_Site_p.Q66_splice	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	182								p.Q182Q(1)		kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGCTGGAGCAAGGTCAGCTGG	0.662000													8	49					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916312	149916312	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:149916312C>A	ENST00000369135.3	-	12	2270	c.1976G>T	c.(1975-1977)gGt>gTt	p.G659V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	659					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.G659V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AGGAGGGCCACCCCCTATTCC	0.557000													30	323					8.58068e-18	1.50745e-17	1	1	0
SACS	26278	broad.mit.edu	37	13	23915735	23915735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:23915735C>A	ENST00000382298.3	-	10	2868	c.2280G>T	c.(2278-2280)ttG>ttT	p.L760F	SACS_ENST00000382292.3_Missense_Mutation_p.L760F|SACS_ENST00000402364.1_Missense_Mutation_p.L10F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	760					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.L760F(1)|p.L613F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTGAACAATCAATTCTCTGC	0.368000													10	127					3.07112e-06	3.71743e-06	1	1	0
DYSF	8291	broad.mit.edu	37	2	71839869	71839869	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:71839869C>T	ENST00000258104.3	+	39	4543	c.4266C>T	c.(4264-4266)atC>atT	p.I1422I	DYSF_ENST00000410041.1_Silent_p.I1440I|DYSF_ENST00000429174.2_Silent_p.I1422I|DYSF_ENST00000409366.1_Silent_p.I1423I|DYSF_ENST00000394120.2_Silent_p.I1423I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.I1453I|DYSF_ENST00000409582.3_Silent_p.I1439I|DYSF_ENST00000410020.3_Silent_p.I1440I|DYSF_ENST00000409744.1_Silent_p.I1409I|DYSF_ENST00000409762.1_Silent_p.I1439I|DYSF_ENST00000409651.1_Silent_p.I1454I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1422						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGTGTACCATCCGCTCCCTGG	0.647000													17	101					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55530859	55530859	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:55530859G>A	ENST00000219070.4	+	10	2003	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	MMP2_ENST00000437642.2_Silent_p.T448T|MMP2_ENST00000570308.1_Silent_p.T422T|MMP2_ENST00000543485.1_Silent_p.T422T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	498	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.		T -> M (in a colorectal cancer sample; somatic mutation).		angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.T498T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGACTGTGACGCCACGTGACA	0.607000													18	115					0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129537068	129537068	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:129537068C>A	ENST00000388920.4	+	2	835	c.796C>A	c.(796-798)Ctg>Atg	p.L266M		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	266					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				CCCCGGGGGCCTGGCGGGCGA	0.697000													12	14					9.31168e-06	1.10534e-05	1	1	0
OR10G4	390264	broad.mit.edu	37	11	123886909	123886909	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:123886909T>A	ENST00000320891.4	+	1	628	c.628T>A	c.(628-630)Ttt>Att	p.F210I		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F210I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTCAGGCTGCTTTGTCCTGAT	0.567000													33	237					0	0	1	0	0
GPX8	493869	broad.mit.edu	37	5	54456891	54456891	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:54456891C>T	ENST00000503787.1	+	2	349	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Silent_p.L41L|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000296734.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	92					response to oxidative stress	integral to membrane	glutathione peroxidase activity	p.L92L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	GCTGAAGGAACTGCACAAAGA	0.473000													6	84					0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122217461	122217461	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:122217461G>C	ENST00000267205.2	-	5	1207	c.579C>G	c.(577-579)ctC>ctG	p.L193L	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	193					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	p.L193L(1)		large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCAGAGCGCTGAGAGCCACCT	0.637000													23	189					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82090872	82090872	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:82090872T>A	ENST00000395578.1	-	5	909	c.793A>T	c.(793-795)Ata>Tta	p.I265L	PRKG2_ENST00000264399.1_Missense_Mutation_p.I265L|PRKG2_ENST00000418486.2_Missense_Mutation_p.I265L|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	265					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.I265L(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCCTCATTATATTCTGGAAT	0.373000													14	108					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32360555	32360555	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:32360555C>T	ENST00000298386.2	+	12	1036	c.965C>T	c.(964-966)cCt>cTt	p.P322L	RXFP2_ENST00000380314.1_Missense_Mutation_p.P298L	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	322						integral to membrane|plasma membrane		p.P322L(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GAACTATCACCTCACCTTTTT	0.348000													31	91					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46888412	46888412	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:46888412G>T	ENST00000359759.4	+	2	1629	c.1608G>T	c.(1606-1608)ctG>ctT	p.L536L	COL18A1_ENST00000355480.5_Silent_p.L301L|COL18A1_ENST00000400337.2_Silent_p.L121L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	536	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	p.L301L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGTCTTGCTGGGCGTGAAGC	0.647000													24	212					2.39556e-15	3.99152e-15	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138536986	138536986	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:138536986C>A	ENST00000440172.1	-	17	5325	c.5277G>T	c.(5275-5277)ccG>ccT	p.P1759P	KIAA1549_ENST00000242365.4_Silent_p.P1709P|KIAA1549_ENST00000422774.1_Silent_p.P1759P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1759						integral to membrane		p.P1759P(1)|p.P1709P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATGGACCCGTCGGGGGAGTCA	0.323000			O	BRAF	pilocytic astrocytoma								6	51					0.00307968	0.00327149	1	1	0
MEP1B	4225	broad.mit.edu	37	18	29784170	29784170	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:29784170C>A	ENST00000269202.6	+	7	441	c.394C>A	c.(394-396)Cgg>Agg	p.R132R	MEP1B_ENST00000581447.1_Silent_p.R132R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	132	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGGAAATAGGCGGGTTGGGAA	0.507000													8	23					0.000274275	0.000302072	1	1	0
RIMS4	140730	broad.mit.edu	37	20	43386739	43386739	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:43386739C>A	ENST00000372851.3	-	3	389	c.323G>T	c.(322-324)cGc>cTc	p.R108L	RIMS4_ENST00000541604.2_Missense_Mutation_p.R109L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	108					exocytosis|neurotransmitter transport	cell junction|synapse		p.R108L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CAGGGTCTGGCGGCCCACAAA	0.592000													12	112					5.01169e-05	5.73299e-05	1	1	0
OR5D13	390142	broad.mit.edu	37	11	55541279	55541279	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55541279T>C	ENST00000361760.1	+	1	366	c.366T>C	c.(364-366)taT>taC	p.Y122Y		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y122Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CGATGGCTTATGACCGTTTTG	0.433000													25	321					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887789	97887789	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:97887789G>A	ENST00000356526.2	+	1	246	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CAAAGATGCTGAATAACTTCT	0.393000													38	291					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919271	154919271	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:154919271C>G	ENST00000368463.3	-	10	950	c.879G>C	c.(877-879)aaG>aaC	p.K293N	PBXIP1_ENST00000542459.1_Missense_Mutation_p.K138N|PBXIP1_ENST00000539880.1_Missense_Mutation_p.K120N|PBXIP1_ENST00000368465.1_Missense_Mutation_p.K264N	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	293					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.K293N(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGCTCTTCCTTTTGGGCCT	0.542000													10	139					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	334970	334970	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:334970C>A	ENST00000400256.3	-	6	1795	c.1588G>T	c.(1588-1590)Ggc>Tgc	p.G530C		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	530	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTGGTGGGCCCGGGGGGCCT	0.716000													3	29					6.4e-05	7.27191e-05	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78328593	78328593	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78328593C>A	ENST00000255189.3	-	9	1462	c.1434G>T	c.(1432-1434)ctG>ctT	p.L478L	DMGDH_ENST00000380311.4_Silent_p.L277L|DMGDH_ENST00000540686.1_Silent_p.L98L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	478					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACTTAGACTCCAGCCTTTGAT	0.493000													21	354					2.32416e-17	4.04832e-17	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78850214	78850214	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:78850214C>A	ENST00000286627.5	-	10	2230	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	KCNMA1_ENST00000372443.1_Missense_Mutation_p.K426N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.K426N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.K426N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.K426N|KCNMA1_ENST00000406533.3_Missense_Mutation_p.K426N|KCNMA1_ENST00000286628.8_Missense_Mutation_p.K426N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.K426N	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	426	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.K426_D427>NY(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GCAGAAAGTCCTTCAGGAAGT	0.522000													35	130					6.2361e-21	1.14468e-20	1	1	0
DPF3	8110	broad.mit.edu	37	14	73219972	73219972	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:73219972C>A	ENST00000541685.1	-	3	313	c.301_splice	c.e3+1	p.E101_splice	DPF3_ENST00000546183.1_Splice_Site_p.E111_splice|DPF3_ENST00000556509.1_Splice_Site_p.E101_splice	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	101					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	p.E101*(2)|p.E100*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGCACTGACCAGGTTTTATC	0.582000													12	45					6.40141e-05	7.27191e-05	1	1	0
SATB2	23314	broad.mit.edu	37	2	200173681	200173681	+	Splice_Site	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:200173681C>G	ENST00000443023.1	-	9	2831		c.e9-1		SATB2_ENST00000428695.1_Splice_Site|SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000417098.1_Splice_Site|SATB2_ENST00000457245.1_Splice_Site			Q9UPW6	SATB2_HUMAN	SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACAGCCAGCCCTGTAGAGAGA	0.557000													5	78					0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231193546	231193546	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:231193546G>T	ENST00000243810.6	+	2	107	c.107_splice	c.e2+1	p.R36_splice	SP140L_ENST00000415673.2_Splice_Site_p.R36_splice|SP140_ENST00000486687.2_Intron|SP140L_ENST00000444636.1_Splice_Site_p.R36_splice|SP140L_ENST00000396563.4_Splice_Site_p.R36_splice			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	36	HSR.					nucleus	DNA binding|metal ion binding	p.R36M(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						agtctgcaaaggtgatgaaga	0.393000													14	62					1.49906e-05	1.75486e-05	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232596806	232596806	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:232596806C>A	ENST00000366630.1	-	9	3280	c.2922G>T	c.(2920-2922)gtG>gtT	p.V974V	SIPA1L2_ENST00000262861.4_Silent_p.V974V|SIPA1L2_ENST00000308942.4_Silent_p.V48V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	974	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.V974V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAAAAGGTTCCACATCTGCGA	0.567000													17	398					1.00905e-13	1.61448e-13	1	1	0
CD300C	10871	broad.mit.edu	37	17	72540804	72540804	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:72540804G>A	ENST00000330793.1	-	2	704	c.344C>T	c.(343-345)cCg>cTg	p.P115L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	115	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TCGGAGCCACGGTGTATCCAC	0.587000													9	177					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89654458	89654458	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:89654458T>G	ENST00000355754.6	-	8	1314	c.1217A>C	c.(1216-1218)aAg>aCg	p.K406T		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	406				IEKKKGDFV -> KKKKKKKKK (in Ref. 5; AAH17889).		cytoplasm	GTP binding|GTPase activity	p.K406T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AAAGTCTCCCTTCTTTTTCTC	0.448000													22	294					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107880434	107880434	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107880434C>G	ENST00000379028.3	-	4	545	c.75G>C	c.(73-75)caG>caC	p.Q25H	NRCAM_ENST00000425651.2_Missense_Mutation_p.Q25H|NRCAM_ENST00000351718.4_Missense_Mutation_p.Q25H|NRCAM_ENST00000379024.4_Missense_Mutation_p.Q25H|NRCAM_ENST00000413765.2_Missense_Mutation_p.Q25H|NRCAM_ENST00000379022.4_Missense_Mutation_p.Q25H			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	25					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.Q25H(3)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACTAATCATCTGGCACAGGA	0.453000													10	215					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282042	130282042	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:130282042T>C	ENST00000358511.6	+	2	226	c.195T>C	c.(193-195)cgT>cgC	p.R65R	COL6A6_ENST00000453409.2_Silent_p.R65R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	65	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.R65R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACAAATACCGTGTGGCCCTGG	0.502000													25	188					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084153	17084153	+	RNA	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:17084153C>G	ENST00000455405.2	-	0	560																											TTACCCGTACCTGCAGTGAGG	0.562000													7	511					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30070104	30070104	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30070104C>G	ENST00000201979.2	+	4	731	c.438C>G	c.(436-438)agC>agG	p.S146R		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	146					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.S146R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGCTGGAGCCAGGAGTCAT	0.592000													14	104					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251689	92251689	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:92251689C>A	ENST00000435962.2	-	11	1502	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	TC2N_ENST00000360594.5_Silent_p.V393V|TC2N_ENST00000556018.1_Silent_p.V329V|TC2N_ENST00000340892.5_Silent_p.V393V	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	393	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TAAACATTCCCACCTTCACGA	0.338000													17	364					5.3912e-06	6.46839e-06	1	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17172116	17172116	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:17172116C>A	ENST00000265970.7	-	3	1255	c.1256G>T	c.(1255-1257)gGa>gTa	p.G419V	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.G39V	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	419					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.G419V(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGCATTTTCTCCGCATATGTT	0.413000													17	171					6.94344e-10	9.73906e-10	1	1	0
CRHR1	1394	broad.mit.edu	37	17	43910880	43910880	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:43910880C>A	ENST00000314537.5	+	10	1131	c.906C>A	c.(904-906)acC>acA	p.T302T	CRHR1_ENST00000398285.3_Silent_p.T331T|CRHR1_ENST00000339069.5_Silent_p.T201T|CRHR1_ENST00000352855.5_Silent_p.T262T|CRHR1_ENST00000293493.7_Silent_p.T127T|CRHR1_ENST00000577353.1_Silent_p.T302T	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	331					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.T302T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGCATCCACCACGTCTGAGA	0.562000													55	156					5.5144e-22	1.02446e-21	1	1	0
LPCAT2	54947	broad.mit.edu	37	16	55562356	55562356	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:55562356G>T	ENST00000262134.5	+	3	563	c.379G>T	c.(379-381)Gct>Tct	p.A127S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	127					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.A127S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ATTTATAGTTGCTGTAAAAGG	0.368000													19	102					1.33834e-09	1.85285e-09	1	1	0
MOG	4340	broad.mit.edu	37	6	29633942	29633942	+	Missense_Mutation	SNP	G	G	T	rs143168440		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29633942G>T	ENST00000376894.4	+	3	568	c.450G>T	c.(448-450)tgG>tgT	p.W150C	MOG_ENST00000431798.2_Missense_Mutation_p.W150C|MOG_ENST00000376888.2_Missense_Mutation_p.W34C|MOG_ENST00000376917.3_Missense_Mutation_p.W150C|MOG_ENST00000396701.2_Missense_Mutation_p.W150C|MOG_ENST00000396704.3_Missense_Mutation_p.W150C|MOG_ENST00000494692.1_Missense_Mutation_p.W150C|MOG_ENST00000490427.1_Missense_Mutation_p.W34C|MOG_ENST00000376891.4_Missense_Mutation_p.W150C|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000483013.1_Missense_Mutation_p.W34C|MOG_ENST00000376898.3_Missense_Mutation_p.W150C|MOG_ENST00000416766.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	150					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.W150_V151>CL(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ctttctactgggTGAGCCCTG	0.542000													52	278					6.20203e-27	1.20508e-26	1	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129343	248129343	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248129343T>G	ENST00000366480.3	+	1	809	c.710T>G	c.(709-711)cTt>cGt	p.L237R	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCTCGTGTGCTTATTGTGGTA	0.473000													7	113					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819864	98819864	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:98819864G>T	ENST00000266058.4	-	10	1238	c.993C>A	c.(991-993)ccC>ccA	p.P331P	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.P331P|SLIT1_ENST00000371070.4_Silent_p.P331P	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	331					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTTTCTGTAGGGTGAGAAGG	0.637000													11	223					1.5842e-08	2.10769e-08	1	1	0
BNC1	646	broad.mit.edu	37	15	83931751	83931751	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:83931751G>T	ENST00000345382.2	-	4	2337	c.2252C>A	c.(2251-2253)aCa>aAa	p.T751K	BNC1_ENST00000569704.1_Missense_Mutation_p.T744K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	751					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T751K(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCCCTCCACTGTGCATGTGTG	0.433000													13	58					0.000151284	0.000170204	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31168704	31168704	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:31168704A>T	ENST00000349752.5	-	7	1326	c.687T>A	c.(685-687)gaT>gaA	p.D229E	GALNT14_ENST00000420311.2_Missense_Mutation_p.D194E|GALNT14_ENST00000356174.3_Missense_Mutation_p.D196E|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.D209E|GALNT14_ENST00000324589.5_Missense_Mutation_p.D234E	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	229						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D229E(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTAATGATATCGATCACAG	0.547000													13	100					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32740258	32740258	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:32740258A>T	ENST00000421745.2	+	55	10904	c.10770A>T	c.(10768-10770)tcA>tcT	p.S3590S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3590					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.S3562S(1)|p.S3590S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCTTAGTTCATCTTTAACAG	0.423000													13	83					0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32546305	32546305	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:32546305C>A	ENST00000382097.3	-	7	727		c.e7+1			NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42									p.?(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						ATGCATCTTACCATCTCCGGT	0.383000													34	176					6.84511e-11	1.00308e-10	1	1	0
PFKL	5211	broad.mit.edu	37	21	45745937	45745937	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:45745937C>T	ENST00000403390.1	+	21	2224	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	PFKL_ENST00000349048.4_Missense_Mutation_p.R695C			P17858	K6PL_HUMAN	phosphofructokinase, liver	695					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.R742C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGAGGTTTACCGCAAGGGTAG	0.642000													3	45					0	0	1	0	0
PTCHD3P1	387647	broad.mit.edu	37	10	29710241	29710241	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:29710241G>T	ENST00000427063.2	+	0	965				PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000430295.1_RNA	NR_003930.1																						CATCTGTCAGGGTTAAGAAAA	0.468000													4	17					0.00024832	0.000275587	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857801	9857801	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9857801G>T	ENST00000396573.2	-	14	3909	c.3600C>A	c.(3598-3600)caC>caA	p.H1200Q	GRIN2A_ENST00000330684.3_Missense_Mutation_p.H1200Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.H1200Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H1200Q|GRIN2A_ENST00000535259.1_Missense_Mutation_p.H1043Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H1200Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1200					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.H1200Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTCTCACTGTGCGGGGAAC	0.537000													135	598					1.55176e-64	3.29113e-64	1	1	0
DOCK9	23348	broad.mit.edu	37	13	99520503	99520503	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:99520503G>T	ENST00000376460.1	-	28	3152	c.3072C>A	c.(3070-3072)agC>agA	p.S1024R	DOCK9_ENST00000442173.1_Missense_Mutation_p.S1024R|DOCK9_ENST00000339416.2_Missense_Mutation_p.S1025R|DOCK9_ENST00000448493.2_Missense_Mutation_p.S1036R	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1025					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.S1025R(1)|p.S1024R(1)|p.S1036R(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGACAGCAAGGCTATGATTCG	0.453000													10	85					2.27111e-07	2.89758e-07	1	1	0
SVIL	6840	broad.mit.edu	37	10	29812654	29812654	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:29812654C>A	ENST00000375398.2	-	17	3338	c.2889G>T	c.(2887-2889)atG>atT	p.M963I	SVIL_ENST00000375400.3_Missense_Mutation_p.M537I|SVIL_ENST00000355867.4_Missense_Mutation_p.M963I			O95425	SVIL_HUMAN	supervillin	963					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.M963I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CATACTTCTCCATCCCACTGT	0.498000													40	203					2.95478e-19	5.29703e-19	1	1	0
GPRIN1	114787	broad.mit.edu	37	5	176024932	176024932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:176024932C>A	ENST00000303991.4	-	2	2081	c.1904G>T	c.(1903-1905)gGt>gTt	p.G635V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	635						growth cone|plasma membrane		p.G635V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTTTGCCACCAGACTGCGG	0.592000													8	66					7.48243e-07	9.33783e-07	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126139132	126139132	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:126139132G>T	ENST00000299308.3	+	9	3121	c.3113G>T	c.(3112-3114)gGc>gTc	p.G1038V	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G550V	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1038						integral to membrane		p.G1038V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGGACGGCGGCCCATACACC	0.468000													13	116					4.3838e-07	5.52985e-07	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45387703	45387703	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:45387703G>A	ENST00000389039.6	-	31	4556	c.4171C>T	c.(4171-4173)Ccc>Tcc	p.P1391S	DUOX2_ENST00000603300.1_Missense_Mutation_p.P1391S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1391					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.P1391S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAGGCAAAGGGGGTGACCCCA	0.537000													19	144					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18436751	18436751	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:18436751C>G	ENST00000541669.1	+	3	258	c.147C>G	c.(145-147)gcC>gcG	p.A49A	LDHC_ENST00000280704.4_Silent_p.A49A|LDHC_ENST00000546146.1_Silent_p.A49A|LDHC_ENST00000537486.1_Silent_p.A49A|LDHC_ENST00000535809.1_Silent_p.A49A|LDHC_ENST00000536880.1_Silent_p.A49A|LDHC_ENST00000544105.1_Silent_p.A49A			P07864	LDHC_HUMAN	lactate dehydrogenase C	49					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	p.A49A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATGAACTTGCCCTTGTTGATG	0.348000													12	86					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207340	58207340	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:58207340A>C	ENST00000302572.2	-	1	306	c.285T>G	c.(283-285)tgT>tgG	p.C95W		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95W(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATTGTGTGGCACAAGCATTAT	0.458000													22	77					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25228823	25228823	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:25228823C>A	ENST00000399916.1	-	6	1518	c.1080G>T	c.(1078-1080)gtG>gtT	p.V360V	RUNX3_ENST00000308873.6_Silent_p.V346V|RUNX3_ENST00000540420.1_Silent_p.V253V|RUNX3_ENST00000338888.3_Silent_p.V360V	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	346	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCTGCCGGCCACCATGGAGA	0.682000													4	41					0.150653	0.152642	1	1	0
GNGT1	2792	broad.mit.edu	37	7	93540144	93540144	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:93540144C>G	ENST00000248572.5	+	3	287	c.139C>G	c.(139-141)Cga>Gga	p.R47G	GNGT1_ENST00000429473.1_Missense_Mutation_p.R47G|GNGT1_ENST00000455502.1_3'UTR	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	47					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CGTTGAAGAACGATCTGGCGA	0.413000													5	156					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95162122	95162122	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:95162122G>C	ENST00000354268.4	+	6	743	c.670G>C	c.(670-672)Gat>Cat	p.D224H	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D224H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	224					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.D224H(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGAATTTAATGATGATCAATC	0.358000													4	31					0	0	1	0	0
STRA8	346673	broad.mit.edu	37	7	134928142	134928142	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:134928142C>A	ENST00000275764.3	+	4	399	c.399C>A	c.(397-399)agC>agA	p.S133R		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	133					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.S133S(1)|p.S133R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AATATGCCAGCATGTATTCTG	0.502000													10	80					1.41608e-15	2.37075e-15	1	1	0
USP5	8078	broad.mit.edu	37	12	6969609	6969609	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6969609A>T	ENST00000229268.8	+	11	1350	c.1298A>T	c.(1297-1299)cAg>cTg	p.Q433L	USP5_ENST00000389231.5_Missense_Mutation_p.Q433L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	433					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.Q433L(2)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCAACCGGCAGCAGGATGCC	0.567000													13	197					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53030987	53030987	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:53030987C>T	ENST00000276480.7	-	24	3453	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	924						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E924K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTAATTTCTTCATCACTCTCT	0.313000													16	94					0	0	1	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256928	71256928	+	RNA	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:71256928A>T	ENST00000434990.1	-	0	61																											TTTCATCTACAGCCTGAGAAA	0.527000													3	32					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165711483	165711483	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:165711483G>T	ENST00000543069.1	-	5	1313	c.732C>A	c.(730-732)gcC>gcA	p.A244A	C6orf118_ENST00000230301.8_Silent_p.A348A			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	348								p.A348A(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCTGCTCCAGGGCTGCTTTTG	0.552000													28	168					2.12542e-12	3.28097e-12	1	1	0
TAS1R2	80834	broad.mit.edu	37	1	19166909	19166909	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:19166909A>T	ENST00000375371.3	-	6	1725	c.1704T>A	c.(1702-1704)gcT>gcA	p.A568A		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	568					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.A568A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCAGGGCCACAGCGATGGTGG	0.632000													15	141					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072368	197072368	+	Silent	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:197072368T>G	ENST00000367409.4	-	18	6269	c.6013A>C	c.(6013-6015)Agg>Cgg	p.R2005R	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2005					mitosis	cytoplasm|nucleus	calmodulin binding	p.R2005R(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGTAAGCCCTATAATACTTT	0.328000													53	185					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124532324	124532324	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:124532324T>A	ENST00000357628.3	-	6	718	c.120A>T	c.(118-120)ggA>ggT	p.G40G	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	40	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.G40G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCTACCAGTTCCTTTGCTTA	0.378000													23	283					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70119859	70119859	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:70119859G>T	ENST00000245479.2	+	3	1233	c.861G>T	c.(859-861)gaG>gaT	p.E287D		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	287					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAACATCGAGACCTTCGATG	0.667000													10	178					0.000673444	0.000730879	1	1	0
INO80	54617	broad.mit.edu	37	15	41377598	41377598	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:41377598C>A	ENST00000361937.3	-	7	1266	c.842G>T	c.(841-843)tGg>tTg	p.W281L	INO80_ENST00000401393.3_Missense_Mutation_p.W281L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	281	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AATGCTGAGCCATACTTTCCT	0.458000													15	195					3.52763e-06	4.26162e-06	1	1	0
BMPER	168667	broad.mit.edu	37	7	34125411	34125411	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:34125411G>T	ENST00000297161.2	+	14	1826	c.1452G>T	c.(1450-1452)atG>atT	p.M484I	BMPER_ENST00000426693.1_Missense_Mutation_p.M484I	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	484	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.M484_A485>IS(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TAGAAGTCATGGCTGCGCCGC	0.433000													12	77					4.36969e-10	6.17489e-10	1	1	0
AHCTF1	25909	broad.mit.edu	37	1	247057967	247057967	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247057967T>C	ENST00000366508.1	-	14	2039	c.1903A>G	c.(1903-1905)Aga>Gga	p.R635G	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R609G|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R600G|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	600	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.R600G(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTACATAGTCTGTCAAATTCC	0.299000													11	86					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951365	30951365	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:30951365C>A	ENST00000402321.1	-	3	1164	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.D283Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.D283Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	283					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.D283Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ACGGGCGAGTCGCGGCGGGCG	0.647000													23	140					2.80507e-11	4.17025e-11	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108608567	108608567	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:108608567T>A	ENST00000264047.2	+	3	460	c.184T>A	c.(184-186)Tgg>Agg	p.W62R	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Missense_Mutation_p.W62R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	62					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.W62R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCAGCTACCTGGGTCGGAGG	0.468000													9	131					0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086096	74086096	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:74086096T>A	ENST00000381139.1	+	2	508	c.177T>A	c.(175-177)ccT>ccA	p.P59P	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	59						cytosol	carboxylesterase activity	p.P59R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGATTATTCCTAAACTTGTCG	0.403000													72	117					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29626011	29626011	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29626011C>A	ENST00000318184.5	-	15	1625	c.1626G>T	c.(1624-1626)aaG>aaT	p.K542N	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	542					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGGGAGGTAACTTTGGTTCAA	0.338000													5	26					0.000602214	0.00065735	1	1	0
KIAA0513	9764	broad.mit.edu	37	16	85112585	85112585	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:85112585C>T	ENST00000566428.1	+	8	1509	c.878C>T	c.(877-879)aCg>aTg	p.T293M	KIAA0513_ENST00000567328.1_Missense_Mutation_p.T293M|KIAA0513_ENST00000538274.1_Missense_Mutation_p.T293M|KIAA0513_ENST00000258180.3_Missense_Mutation_p.T293M			O60268	K0513_HUMAN	KIAA0513	293						cytoplasm		p.T293M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TACCTGTACACGCACCTGAAG	0.607000													30	168					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116191477	116191477	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:116191477C>A	ENST00000288462.4	+	14	1643	c.1197C>A	c.(1195-1197)ccC>ccA	p.P399P	C9orf43_ENST00000374165.1_Silent_p.P399P	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	399								p.P399P(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AAACAGAACCCACTAACAAGG	0.428000													46	308					1.00221e-16	1.71888e-16	1	1	0
CA5A	763	broad.mit.edu	37	16	87921828	87921828	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:87921828C>T	ENST00000309893.2	-	7	890	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	275					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	p.K275K(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		TCACCATCATCTTCTCCTCTT	0.527000													4	80					0	0	1	0	0
BCAP29	55973	broad.mit.edu	37	7	107224400	107224400	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107224400A>T	ENST00000379119.2	+	2	180	c.166A>T	c.(166-168)Atc>Ttc	p.I56F	BCAP29_ENST00000379117.2_Missense_Mutation_p.I56F|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Missense_Mutation_p.I56F|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000005259.4_Missense_Mutation_p.I56F	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	56					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		p.I56F(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CCTTACCATTATCATCCTATT	0.274000													16	97					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89403612	89403612	+	RNA	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89403612G>A	ENST00000532352.1	+	0	963							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.V50V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTACAATGTGATAGGTACTC	0.358000													11	112					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22624354	22624354	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:22624354C>A	ENST00000333957.4	-	20	2592	c.2337G>T	c.(2335-2337)ctG>ctT	p.L779L	C2CD5_ENST00000536386.1_Silent_p.L781L|C2CD5_ENST00000446597.1_Silent_p.L779L|C2CD5_ENST00000542676.1_Silent_p.L779L|C2CD5_ENST00000396028.2_Silent_p.L770L|C2CD5_ENST00000544930.1_Silent_p.L594L|C2CD5_ENST00000545552.1_Silent_p.L792L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.L779L(1)|p.L594L(1)									CATCTTCAGGCAGAGATACTG	0.303000													19	83					7.41877e-09	9.95747e-09	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535377	27535377	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:27535377C>A	ENST00000574842.1	+	0	255																											ACAAATATTGCCAAGATGAGT	0.388000													19	142					2.4624e-09	3.38046e-09	1	1	0
GAS7	8522	broad.mit.edu	37	17	9830018	9830018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:9830018G>T	ENST00000396115.1	-	10	1084	c.774C>A	c.(772-774)tgC>tgA	p.C258*	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000432992.2_Nonsense_Mutation_p.C318*|GAS7_ENST00000585266.1_Nonsense_Mutation_p.C254*|GAS7_ENST00000542249.1_Nonsense_Mutation_p.C263*|GAS7_ENST00000437099.2_Nonsense_Mutation_p.C254*|GAS7_ENST00000579158.1_Nonsense_Mutation_p.C270*|GAS7_ENST00000323816.4_Nonsense_Mutation_p.C254*|GAS7_ENST00000580865.1_Nonsense_Mutation_p.C178*|GAS7_ENST00000583882.1_Intron	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	318	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.C178*(1)|p.C318*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGGTGGTCGCACTTCTTCA	0.592000			T	MLL	AML*								26	110					1.39806e-14	2.28756e-14	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25324099	25324099	+	RNA	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25324099A>T	ENST00000549804.2	+	0	1334																											CCATGGACACATGTGGCATGG	0.498000													8	35					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998855	29998855	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29998855G>T	ENST00000308893.4	+	16	4305	c.3262G>T	c.(3262-3264)Gtt>Ttt	p.V1088F	TAOK2_ENST00000543033.1_Missense_Mutation_p.V975F|TAOK2_ENST00000416441.2_Missense_Mutation_p.V915F|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1088					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.V1088F(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTGGTTGCGGGTTCTGCTGCG	0.672000													42	118					3.54909e-21	6.52437e-21	1	1	0
CD163	9332	broad.mit.edu	37	12	7649500	7649500	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:7649500C>G	ENST00000359156.4	-	5	1210	c.1008G>C	c.(1006-1008)caG>caC	p.Q336H	CD163_ENST00000396620.3_Missense_Mutation_p.Q336H|CD163_ENST00000541972.1_Missense_Mutation_p.Q324H|CD163_ENST00000432237.2_Missense_Mutation_p.Q336H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	336	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.Q336H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTTCATGTCCCTGGCAAGAAA	0.473000													24	88					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160998186	160998186	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:160998186G>T	ENST00000447678.1	-	29	4733	c.4613C>A	c.(4612-4614)cCa>cAa	p.P1538Q	LPA_ENST00000316300.5_Missense_Mutation_p.P1538Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4046	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTAGTTTTCTGGGGTCCTCTG	0.453000													23	342					1.50538e-07	1.93369e-07	1	1	0
PIDD	55367	broad.mit.edu	37	11	799386	799386	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:799386C>A	ENST00000347755.5	-	16	2795	c.2654G>T	c.(2653-2655)cGa>cTa	p.R885L	PIDD_ENST00000411829.2_Missense_Mutation_p.R868L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	885					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	p.R885L(1)									GCCCATGCGTCGGATGCTGTC	0.682000													18	201					7.45023e-12	1.1274e-11	1	1	0
MED27	9442	broad.mit.edu	37	9	134889752	134889752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:134889752G>A	ENST00000292035.5	-	3	514	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	MED27_ENST00000372184.3_Nonsense_Mutation_p.Q151*|MED27_ENST00000357028.2_Nonsense_Mutation_p.Q113*	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	151					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GTTGTGGGCTGAGCCTTTGGT	0.428000													16	141					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103270430	103270430	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:103270430G>T	ENST00000375735.2	+	84	12340	c.12196G>T	c.(12196-12198)Gat>Tat	p.D4066Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D4073Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4066					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.D1506Y(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTCCTAACGATCGACAAGG	0.353000													17	56					2.37509e-13	3.77311e-13	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66280039	66280039	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:66280039G>T	ENST00000273854.3	-	7	2250	c.1650C>A	c.(1648-1650)gtC>gtA	p.V550V	EPHA5_ENST00000511294.1_Silent_p.V550V|EPHA5_ENST00000432638.2_Silent_p.V386V|EPHA5_ENST00000354839.4_Silent_p.V550V	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	550	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V550V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTCGACTGAAGACACCATAGC	0.413000										TSP Lung(17;0.13)			15	153					3.41278e-10	4.8703e-10	1	1	0
PLEKHA8	84725	broad.mit.edu	37	7	30092445	30092445	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:30092445C>T	ENST00000449726.1	+	7	1109	c.759C>T	c.(757-759)agC>agT	p.S253S	PLEKHA8_ENST00000258679.7_Silent_p.S253S|PLEKHA8_ENST00000396257.2_Silent_p.S253S|PLEKHA8_ENST00000396259.1_Silent_p.S253S	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	253					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	p.S253S(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAGACTGCAGCATATCAAGTG	0.284000													4	45					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286474	79286474	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:79286474G>T	ENST00000442340.1	+	9	1557	c.1067G>T	c.(1066-1068)aGa>aTa	p.R356I	TBX22_ENST00000373296.3_Missense_Mutation_p.R476I|TBX22_ENST00000373291.1_Missense_Mutation_p.R356I|TBX22_ENST00000373294.5_Missense_Mutation_p.R476I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	476					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R476I(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GACTTTTATAGATACAATTTC	0.373000													24	52					6.44725e-10	9.07939e-10	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137708882	137708882	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137708882G>T	ENST00000371817.3	+	53	4547	c.4133G>T	c.(4132-4134)gGc>gTc	p.G1378V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1378	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G1378F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGATCCCCCGGCCCTACTGGT	0.517000													18	139					1.02788e-11	1.54308e-11	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168107012	168107012	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:168107012C>A	ENST00000409195.1	+	9	9199	c.9110C>A	c.(9109-9111)tCc>tAc	p.S3037Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3037Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2815Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2862					actin cytoskeleton organization	cell junction	actin binding	p.S3037Y(1)		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						ATGATGTCCTCCAAAACAGGA	0.318000													44	213					6.45866e-13	1.01293e-12	1	1	0
DPP6	1804	broad.mit.edu	37	7	154379755	154379755	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:154379755C>A	ENST00000406326.1	+	6	1426	c.1023C>A	c.(1021-1023)agC>agA	p.S341R	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.S341R(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TAATGCACAGCAGCTACAGGC	0.592000													40	222					1.48734e-19	2.68201e-19	1	1	0
CAD	790	broad.mit.edu	37	2	27462299	27462299	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27462299G>A	ENST00000264705.4	+	33	5516	c.5354G>A	c.(5353-5355)cGt>cAt	p.R1785H	CAD_ENST00000403525.1_Missense_Mutation_p.R1722H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1785	DHOase (dihydroorotase).				'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	p.R1785H(1)		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)	ACCGTCCGCCGTGTGGTCCTG	0.572000													10	88					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870276	51870276	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:51870276G>T	ENST00000371497.5	+	2	1166	c.279G>T	c.(277-279)tcG>tcT	p.S93S	TSHZ2_ENST00000603338.2_Silent_p.S90S|TSHZ2_ENST00000329613.6_Silent_p.S90S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	93					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S93S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCAGGTGTCGGACATCAAGA	0.502000													36	93					4.92203e-23	9.27743e-23	1	1	0
AMPH	273	broad.mit.edu	37	7	38500951	38500951	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:38500951G>T	ENST00000356264.2	-	11	1164	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	AMPH_ENST00000325590.5_Missense_Mutation_p.Q317K|AMPH_ENST00000428293.2_Missense_Mutation_p.Q317K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	317					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.Q317K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ATGTTCTCCTGCTGCAGTTCC	0.468000													40	271					1.96642e-18	3.47948e-18	1	1	0
WDR7	23335	broad.mit.edu	37	18	54385314	54385314	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:54385314C>G	ENST00000254442.3	+	13	1909	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.I566M	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	566								p.I566M(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCAAGTAATCAAATGGAGGC	0.433000													27	180					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740131	140740131	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140740131C>G	ENST00000522605.1	+	1	429	c.429C>G	c.(427-429)ggC>ggG	p.G143G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.G143G(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAATTGGCGAATCCACTA	0.373000													26	75					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596304	179596304	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179596304G>A	ENST00000589042.1	-	59	17413	c.17189C>T	c.(17188-17190)cCa>cTa	p.P5730L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5413L|TTN_ENST00000342992.6_Missense_Mutation_p.P4486L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5413	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P4486L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGAAGGATGGGGGTTCTAA	0.463000													13	67					0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43629814	43629814	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:43629814G>A	ENST00000372806.3	+	9	1062	c.967G>A	c.(967-969)Gat>Aat	p.D323N	STK4_ENST00000372801.1_Missense_Mutation_p.D323N|STK4_ENST00000396731.4_Missense_Mutation_p.D323N|STK4_ENST00000499879.2_Missense_Mutation_p.D268N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	323					apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.D323N(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ACAGGAAGAGGATGAAATGGA	0.418000													12	51					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238276	21238276	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21238276G>T	ENST00000233242.1	-	22	3601	c.3474C>A	c.(3472-3474)ggC>ggA	p.G1158G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1158					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1158G(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAACTGTGGAGCCATAAGCTG	0.517000													19	83					1.10513e-12	1.71677e-12	1	1	0
GPR139	124274	broad.mit.edu	37	16	20043324	20043324	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20043324G>T	ENST00000570682.1	-	2	1095	c.795C>A	c.(793-795)atC>atA	p.I265I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	265						integral to membrane|plasma membrane		p.I265I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTCGGACATGATGTGTACCA	0.547000													61	121					1.07796e-43	2.26085e-43	1	1	0
GTPBP1	9567	broad.mit.edu	37	22	39112749	39112749	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:39112749G>A	ENST00000216044.5	+	4	811	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	193					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	p.R193H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GGCTTTGCCCGCCAGAAACTC	0.557000													24	95					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34922655	34922655	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:34922655A>G	ENST00000356577.4	+	3	1593	c.1118A>G	c.(1117-1119)cAg>cGg	p.Q373R	SON_ENST00000290239.6_Missense_Mutation_p.Q373R|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.Q373R|SON_ENST00000300278.4_Missense_Mutation_p.Q373R	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	373					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.Q373R(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTGGAGCTGCAGGAGTCGTCG	0.617000													18	188					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97423908	97423908	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:97423908A>T	ENST00000369261.4	+	3	422	c.59A>T	c.(58-60)cAc>cTc	p.H20L	KLHL32_ENST00000539200.1_Missense_Mutation_p.H20L|KLHL32_ENST00000536676.1_Missense_Mutation_p.H20L|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	20										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGGCTCTGCCACTCCGAATCT	0.507000													7	79					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C	rs146982767	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							GATTTGTTCATGCCTTCCCTT	0.448000													10	107					0	0	1	0	0
MSRB2	22921	broad.mit.edu	37	10	23399200	23399200	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:23399200G>T	ENST00000376510.3	+	3	352	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	83					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K83N(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	TGAATAACAAGGAAGCAGGAA	0.423000													17	113					6.94344e-10	9.73906e-10	1	1	0
CADPS	8618	broad.mit.edu	37	3	62739208	62739208	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:62739208G>A	ENST00000383710.4	-	3	1145	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	CADPS_ENST00000357948.3_Silent_p.L266L|CADPS_ENST00000283269.9_Silent_p.L266L|CADPS_ENST00000490353.2_Silent_p.L266L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	266					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCAGAATCAGCTCGGAGGCT	0.537000													5	159					0	0	1	0	0
PSMG3	84262	broad.mit.edu	37	7	1608771	1608771	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:1608771C>A	ENST00000288607.2	-	1	858	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W	PSMG3_ENST00000252329.3_Missense_Mutation_p.G69W|PSMG3_ENST00000404674.3_Missense_Mutation_p.G69W	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	69								p.G69W(1)		lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		TCATCCTGCCCCAGAAGGACT	0.607000													52	234					1.44317e-28	2.84693e-28	1	1	0
MEPE	56955	broad.mit.edu	37	4	88767462	88767462	+	Missense_Mutation	SNP	G	G	T	rs138152179		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:88767462G>T	ENST00000497649.2	+	6	1748	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.R368L|MEPE_ENST00000540395.1_Missense_Mutation_p.R368L|MEPE_ENST00000361056.3_Missense_Mutation_p.R481L|MEPE_ENST00000395102.4_Missense_Mutation_p.R512L|MEPE_ENST00000424957.3_Missense_Mutation_p.R481L			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	481					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R481Q(1)|p.R481L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AATTCTACACGGAATAAGGGT	0.423000													27	194					1.66031e-10	2.39583e-10	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21038383	21038383	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21038383C>T	ENST00000261383.3	-	38	5505	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1836N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1836	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D1836N(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCTCGAGGTCGGCGGGCTCG	0.567000													15	71					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650958	121650958	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:121650958G>C	ENST00000393386.2	+	12	2269	c.1858G>C	c.(1858-1860)Gat>Cat	p.D620H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.D620H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	620					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D620H(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATAACATATGATGTCCTTAT	0.418000													13	88					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61234147	61234147	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:61234147C>T	ENST00000382768.1	+	7	1181	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	SERPINB12_ENST00000269491.1_Missense_Mutation_p.S374F			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	374					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.S374F(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCACTACGATCTTGGGTGGAG	0.453000													23	153					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361259	107361259	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107361259C>T	ENST00000374779.2	-	1	529	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGGACCCAGCTGCCATGGGT	0.473000													7	230					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29416585	29416585	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:29416585G>T	ENST00000389048.3	-	29	5274	c.4368C>A	c.(4366-4368)ccC>ccA	p.P1456P	ALK_ENST00000431873.1_Silent_p.P286P	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1456					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P1456P(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTGCAGCTGTGGGTTTCTTTG	0.602000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				29	259					1.26612e-14	2.07582e-14	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27476638	27476638	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:27476638G>A	ENST00000356183.4	-	33	5313	c.5298C>T	c.(5296-5298)ttC>ttT	p.F1766F	GTF3C1_ENST00000561623.1_Silent_p.F1766F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1766						transcription factor TFIIIC complex	DNA binding|protein binding	p.F1766F(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAAGGCCGAGAACCGTCTGC	0.552000													23	155					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456512	82456512	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:82456512C>A	ENST00000370728.1	+	25	4708	c.4063C>A	c.(4063-4065)Ctg>Atg	p.L1355M	LPHN2_ENST00000271029.4_Missense_Mutation_p.L1327M|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1312M|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.L1370M|LPHN2_ENST00000394879.1_Missense_Mutation_p.L1357M|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.L1299M|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1357M|LPHN2_ENST00000370721.1_Missense_Mutation_p.L1280M|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1299M|LPHN2_ENST00000335786.5_Missense_Mutation_p.L1312M|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1327M|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1370M			O95490	LPHN2_HUMAN	latrophilin 2	1355					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGTCTCCCAACTGACAGCAGA	0.522000													16	146					1.5739e-10	2.28053e-10	1	1	0
CD200	4345	broad.mit.edu	37	3	112064005	112064005	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:112064005C>A	ENST00000315711.8	+	3	348	c.291C>A	c.(289-291)acC>acA	p.T97T	CD200_ENST00000383681.3_Silent_p.T23T|CD200_ENST00000473539.1_Silent_p.T122T	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	97	Ig-like V-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TAAACATTACCCAGCTGGGAC	0.468000													17	124					0.000422831	0.000465058	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95508630	95508630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:95508630C>A	ENST00000297591.5	-	18	4384	c.4309G>T	c.(4309-4311)Gag>Tag	p.E1437*	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1437					mRNA processing|RNA splicing	nucleus		p.E1437*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTTTTAACTCTGCAGCATTA	0.383000													17	83					8.34094e-07	1.03097e-06	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179631268	179631268	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179631268G>T	ENST00000444136.1	+	15	2602	c.2352G>T	c.(2350-2352)ctG>ctT	p.L784L	TDRD5_ENST00000367614.1_Silent_p.L730L|TDRD5_ENST00000294848.8_Silent_p.L730L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	781					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.L730L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCATGCCTGGAGTCAGTGA	0.403000													19	212					6.21321e-17	1.07085e-16	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576967	158576967	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158576967G>C	ENST00000361284.1	+	1	739	c.739G>C	c.(739-741)Gtg>Ctg	p.V247L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V247L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCACCTTACAGTGGTCATTAT	0.507000													89	312					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563543	55563543	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55563543C>A	ENST00000335605.1	+	1	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171Y(1)|p.S171F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAAACTTCTCTGGACCTAAT	0.493000													71	255					3.13743e-37	6.49707e-37	1	1	0
ANPEP	290	broad.mit.edu	37	15	90349243	90349243	+	Missense_Mutation	SNP	G	G	A	rs148796695		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:90349243G>A	ENST00000300060.6	-	2	885	c.572C>T	c.(571-573)gCg>gTg	p.A191V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	191	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.A191V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTAGAAGCCCGCCAGGTCATC	0.622000													21	174					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53030734	53030734	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:53030734G>T	ENST00000378037.5	+	2	237	c.147G>T	c.(145-147)atG>atT	p.M49I	CKAP2_ENST00000378034.3_Missense_Mutation_p.M49I|CKAP2_ENST00000490903.1_Start_Codon_SNP_p.M1I|CKAP2_ENST00000258607.5_Missense_Mutation_p.M49I	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	49					apoptosis|cell cycle	centrosome|microtubule|spindle pole		p.M49I(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAAATGAGATGTTATCCAGGT	0.323000													27	75					2.25844e-05	2.62504e-05	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75954354	75954354	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:75954354T>A	ENST00000274364.6	+	21	2688	c.2391T>A	c.(2389-2391)gaT>gaA	p.D797E	IQGAP2_ENST00000379730.3_Missense_Mutation_p.D299E|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D293E|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D293E	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	797					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	p.D797E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTGATTTGGATTTCCAGGAGG	0.433000													21	103					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71190322	71190322	+	Missense_Mutation	SNP	C	C	A	rs147187470		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:71190322C>A	ENST00000234396.4	+	10	1013	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R314S	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	314					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.R314S(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGTGCCTGGGCGCCGAGGGTT	0.607000													33	164					1.45844e-13	2.32743e-13	1	1	0
HTR1E	3354	broad.mit.edu	37	6	87725346	87725346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:87725346G>A	ENST00000305344.4	+	2	997	c.294G>A	c.(292-294)tgG>tgA	p.W98*	HTR1E_ENST00000369584.1_Nonsense_Mutation_p.W98*	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	98					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.W98*(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTGAGGTGTGGCTGAGTGTGG	0.562000													17	168					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36350479	36350479	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36350479C>A	ENST00000360202.5	+	5	817	c.619C>A	c.(619-621)Cgg>Agg	p.R207R	KIRREL2_ENST00000592409.1_Silent_p.R207R|KIRREL2_ENST00000347900.6_Silent_p.R157R|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Intron|KIRREL2_ENST00000262625.7_Silent_p.R207R	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	207	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane		p.R207R(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCCGGGCCCGGAGCCAGGC	0.627000													44	127					5.76465e-13	9.05821e-13	1	1	0
PEG3	5178	broad.mit.edu	37	19	57328676	57328676	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:57328676A>G	ENST00000326441.9	-	10	1497	c.1134T>C	c.(1132-1134)aaT>aaC	p.N378N	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.N378N|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.N252N|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.N254N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	378					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N378N(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAGGGTTGAATTAAACCTAA	0.443000													59	147					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260275	44260275	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:44260275G>T	ENST00000315087.7	-	7	1521	c.861C>A	c.(859-861)cgC>cgA	p.R287R	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.R323R|ST8SIA5_ENST00000536490.1_Silent_p.R256R	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	287					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		p.R287R(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGAGCCAGTAGCGCGACACGT	0.617000													27	108					1.77063e-15	2.96231e-15	1	1	0
TAAR8	83551	broad.mit.edu	37	6	132874334	132874334	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:132874334A>T	ENST00000275200.1	+	1	503	c.503A>T	c.(502-504)tAc>tTc	p.Y168F		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	168						plasma membrane	G-protein coupled receptor activity	p.Y168F(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GCTGTGTTCTACACAGGTGTC	0.493000													28	315					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898709	134898709	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:134898709A>T	ENST00000398015.3	+	10	2137	c.1767A>T	c.(1765-1767)ccA>ccT	p.P589P	EPHB1_ENST00000493838.1_Silent_p.P150P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	589						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.P589P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGGCTCCCCAGGGATGAAGA	0.488000													46	331					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547770	228547770	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:228547770G>T	ENST00000284548.11	+	81	19251	c.19177G>T	c.(19177-19179)Ggc>Tgc	p.G6393C	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.G3512C|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCATGGTCGGCGTCAGAGA	0.662000													4	17					0.150653	0.152642	1	1	0
METTL21C	196541	broad.mit.edu	37	13	103338686	103338686	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:103338686G>A	ENST00000267273.6	-	4	495	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	164							methyltransferase activity	p.L164L(1)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						ACTTCAGGCAGATGTGCTGTA	0.418000													46	99					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41543692	41543692	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:41543692G>T	ENST00000396942.1	-	36	4451	c.4368C>A	c.(4366-4368)atC>atA	p.I1456I	ANK1_ENST00000379758.2_Silent_p.I1456I|ANK1_ENST00000347528.4_Silent_p.I1456I|ANK1_ENST00000289734.7_Silent_p.I1456I|ANK1_ENST00000396945.1_Silent_p.I1456I|ANK1_ENST00000265709.8_Silent_p.I1497I|ANK1_ENST00000352337.4_Silent_p.I1456I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1456	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.I1497I(1)|p.I1456I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCTTCACGGATGACCCAGA	0.527000													29	150					5.45727e-16	9.21806e-16	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160763691	160763691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:160763691C>A	ENST00000274547.2	-	7	844	c.627G>T	c.(625-627)caG>caT	p.Q209H	GABRB2_ENST00000393959.1_Missense_Mutation_p.Q209H|GABRB2_ENST00000353437.6_Missense_Mutation_p.Q209H|GABRB2_ENST00000517901.1_Missense_Mutation_p.Q146H|GABRB2_ENST00000520240.1_Missense_Mutation_p.Q209H|GABRB2_ENST00000517547.1_Missense_Mutation_p.Q49H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	209					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.Q209H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAATAGAGAACTGTGGAAGTT	0.363000													27	100					1.17739e-12	1.82555e-12	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155256115	155256115	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:155256115G>T	ENST00000357232.3	-	8	1120	c.1121C>A	c.(1120-1122)cCt>cAt	p.P374H	DCHS2_ENST00000339452.1_Missense_Mutation_p.P873H|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	374	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P873H(1)|p.P374H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAACTCAGCAGGTGCCAGAGT	0.463000													17	113					4.14922e-12	6.34525e-12	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102446176	102446176	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:102446176C>T	ENST00000360184.4	+	4	803	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	213	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.I213I(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCCAATGATCACAAATGTTG	0.393000													36	158					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51915060	51915060	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:51915060C>A	ENST00000371117.3	-	22	2449	c.2174G>T	c.(2173-2175)gGg>gTg	p.G725V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G725V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	725					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G725V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGATTGCCCCCTGGGCGAGC	0.547000											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	94					0.00074312	0.000805785	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31320594	31320594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31320594C>A	ENST00000542188.1	-	24	3598	c.3285G>T	c.(3283-3285)atG>atT	p.M1095I	TRPM1_ENST00000256552.6_Missense_Mutation_p.M1078I|TRPM1_ENST00000397795.2_Missense_Mutation_p.M1056I|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1056					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.M1056I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GATAGCACGCCATGAGTGCTG	0.502000													14	121					4.7546e-09	6.46226e-09	1	1	0
TPMT	7172	broad.mit.edu	37	6	18148127	18148127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:18148127C>A	ENST00000309983.4	-	3	245	c.160G>T	c.(160-162)Gat>Tat	p.D54Y		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	54					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	AGGAAAGTATCTAAATGCTTC	0.343000													25	129					1.55469e-16	2.66271e-16	1	1	0
DSG1	1828	broad.mit.edu	37	18	28918286	28918286	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:28918286T>C	ENST00000257192.4	+	10	1486	c.1274T>C	c.(1273-1275)aTg>aCg	p.M425T		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	425	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.M425T(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGTATGTAATGGGAAATAAT	0.303000													14	71					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521227	23521227	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:23521227G>A	ENST00000296682.3	+	6	629	c.447G>A	c.(445-447)caG>caA	p.Q149Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	149					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGCAGGCTCAGAAACCAGTGT	0.433000										HNSCC(3;0.000094)			11	171					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79067002	79067002	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:79067002C>G	ENST00000388820.4	-	12	2050	c.1840G>C	c.(1840-1842)Ggc>Cgc	p.G614R	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	614	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGCTGGCCCTTGTAGAGC	0.642000													12	137					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027978	92027978	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:92027978C>T	ENST00000265742.3	+	20	3361	c.2985C>T	c.(2983-2985)atC>atT	p.I995I		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	995							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGAAATCAGTGCAGATT	0.473000													10	133					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934426	68934426	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:68934426G>C	ENST00000356291.2	-	7	724	c.665C>G	c.(664-666)gCc>gGc	p.A222G	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	222	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.A222G(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CTGGAGGCTGGCCTGCCATGG	0.502000													17	89					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20833145	20833145	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20833145G>T	ENST00000261377.6	+	6	746	c.537G>T	c.(535-537)aaG>aaT	p.K179N	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.K179N|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K179N|AC004381.6_ENST00000567297.1_3'UTR	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.K179N(1)									TCATTCAAAAGTATGGCTCTA	0.413000													49	107					8.86878e-18	1.55695e-17	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166788366	166788366	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166788366C>A	ENST00000243344.7	-	8	933	c.795_splice	c.e8-1	p.A266_splice		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	266						cilium axoneme|cytoplasm|cytoskeleton	binding	p.A266S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTGGTGGAAGCCTAAAACAAA	0.353000													18	62					5.35267e-07	6.73816e-07	1	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136406063	136406063	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:136406063G>C	ENST00000393061.3	+	7	1381	c.949G>C	c.(949-951)Ggg>Cgg	p.G317R	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G208R|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G208R			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	208					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CATCTGCCAGGGGGACGGTAG	0.637000													3	67					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197833	23197833	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:23197833G>T	ENST00000300061.2	+	2	384	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	81					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.V81F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTTCTATACTGTCTCAGTTTC	0.572000													11	129					0.00185496	0.00199029	1	1	0
PRICKLE1	144165	broad.mit.edu	37	12	42860072	42860072	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:42860072C>A	ENST00000455697.1	-	6	984	c.699G>T	c.(697-699)aaG>aaT	p.K233N	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K233N|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K233N|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K233N|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K233N	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	233	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.K233N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGCGGCCGTCCTTCATGATAT	0.537000													13	171					7.03913e-09	9.48332e-09	1	1	0
PIWIL2	55124	broad.mit.edu	37	8	22210598	22210598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:22210598C>T	ENST00000356766.6	+	21	2678	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.Q844*|PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q844*	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	844	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.Q844*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGAGAATTATCAGCCCAAGAT	0.433000													11	241					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37612388	37612388	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:37612388G>C	ENST00000434837.2	-	13	3464	c.2286C>G	c.(2284-2286)ggC>ggG	p.G762G	MDGA1_ENST00000505425.1_Silent_p.G762G|MDGA1_ENST00000297153.7_Silent_p.G766G	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	762	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCTGGGTATAGCCACAGATCT	0.557000													5	58					0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19761705	19761705	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:19761705C>A	ENST00000405764.3	-	4	1208	c.512G>T	c.(511-513)aGa>aTa	p.R171I	TMEM196_ENST00000433641.1_3'UTR|TMEM196_ENST00000405844.1_3'UTR|TMEM196_ENST00000422233.1_3'UTR|TMEM196_ENST00000493519.1_Missense_Mutation_p.R103I	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	177						integral to membrane		p.R103I(1)|p.R171I(1)		breast(1)|large_intestine(1)|lung(4)	6						TGATTACACTCTTCCATTAAA	0.318000													17	99					3.41278e-10	4.8703e-10	1	1	0
POLR3B	55703	broad.mit.edu	37	12	106763069	106763069	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:106763069G>T	ENST00000228347.4	+	5	466	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	POLR3B_ENST00000539066.1_Missense_Mutation_p.V24F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	82					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.V82F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TAATATCTATGTTGGGCTTCC	0.338000													33	249					0.000109025	0.000122772	1	1	0
SMNDC1	10285	broad.mit.edu	37	10	112058482	112058482	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:112058482T>A	ENST00000369603.4	-	3	390	c.187A>T	c.(187-189)Agt>Tgt	p.S63C	SMNDC1_ENST00000369592.1_Missense_Mutation_p.S63C|SMNDC1_ENST00000471297.1_5'UTR	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	63					apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		GAAGCAAAACTGTCTGAACTT	0.363000													7	91					0	0	1	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262354	1262354	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:1262354G>A	ENST00000343938.4	+	2	475	c.64G>A	c.(64-66)Gat>Aat	p.D22N	GLTPD1_ENST00000464957.1_Intron	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	22						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGTGTCTCGATGAGAAGGA	0.562000													10	91					0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64698956	64698956	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:64698956G>C	ENST00000164133.2	+	9	1562	c.940G>C	c.(940-942)Gag>Cag	p.E314Q		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	314					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CACTCTGACAGAGCACGTGAG	0.597000													10	43					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17937597	17937597	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:17937597G>A	ENST00000458235.1	-	24	3429	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F	JAK3_ENST00000527670.1_Silent_p.F1110F	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	1110	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.F1110F(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGTGAGCAGTGAAGGCATGAG	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								39	256					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102361025	102361025	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:102361025A>C	ENST00000438793.3	+	23	3146	c.2676A>C	c.(2674-2676)tcA>tcC	p.S892S	PAM_ENST00000379787.4_Silent_p.S272S|PAM_ENST00000274392.9_Silent_p.S794S|PAM_ENST00000348126.2_Silent_p.S785S|PAM_ENST00000455264.2_Intron|PAM_ENST00000304400.7_Silent_p.S892S|PAM_ENST00000346918.2_Intron	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	892					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.S892S(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGAAAAAATCAAGGGCCTTTG	0.468000													19	130					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10574812	10574812	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:10574812T>C	ENST00000396559.1	+	11	1829	c.1559T>C	c.(1558-1560)aTg>aCg	p.M520T	ATF7IP2_ENST00000356427.2_Silent_p.N542N|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.M520T|ATF7IP2_ENST00000543967.1_Silent_p.N86N|ATF7IP2_ENST00000396560.2_Silent_p.N542N	NM_001256160.1	NP_001243089.1	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.N542N(1)		large_intestine(3)	3						TGGCACAAAATGCAGTCCAGG	0.413000													8	116					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42582899	42582899	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:42582899A>T	ENST00000372899.1	+	9	1334	c.1076A>T	c.(1075-1077)gAt>gTt	p.D359V	UBR2_ENST00000372901.1_Missense_Mutation_p.D359V|UBR2_ENST00000372903.2_Missense_Mutation_p.D359V	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	359					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.D359V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCTTAGTGATTCCAAATTA	0.373000													15	111					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65351719	65351719	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65351719C>T	ENST00000220062.4	-	3	474	c.198G>A	c.(196-198)caG>caA	p.Q66Q	RASL12_ENST00000434605.2_Silent_p.Q55Q|RASL12_ENST00000421977.3_Silent_p.Q47Q	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	66					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	p.Q55Q(1)|p.Q66Q(1)		lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGTGGACAGGCTGGTGGTCCA	0.537000													10	74					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749798	142749798	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142749798T>A	ENST00000418316.1	+	1	382	c.361T>A	c.(361-363)Ttt>Att	p.F121I		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F121I(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CCTTGATCGCTTTGTGGCCAT	0.572000													34	192					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89907012	89907012	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89907012G>T	ENST00000534061.1	+	14	1661	c.1431G>T	c.(1429-1431)ggG>ggT	p.G477G	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.G444G	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	477	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G477G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTGATGATGGGTTTGAGAGTA	0.353000													41	148					5.37117e-13	8.45616e-13	1	1	0
ALG2	85365	broad.mit.edu	37	9	101980872	101980872	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:101980872G>A	ENST00000476832.1	-	2	656	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F	ALG2_ENST00000319033.6_Missense_Mutation_p.L106F	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	199					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.L199F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GATGGATAGAGGACATCAGGG	0.468000													8	102					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673896	20673896	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:20673896C>A	ENST00000525748.1	+	15	2405	c.2132C>A	c.(2131-2133)cCt>cAt	p.P711H	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	711					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P711N(1)		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)	TACCGCTATCCTAACTGGTCC	0.483000													32	167					1.61788e-16	2.7613e-16	1	1	0
NEGR1	257194	broad.mit.edu	37	1	72748123	72748123	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:72748123C>A	ENST00000357731.4	-	1	294	c.55G>T	c.(55-57)Gcg>Tcg	p.A19S	NEGR1_ENST00000434200.1_Missense_Mutation_p.A17S	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	19					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGAGCACCGCCGCCAGCCAC	0.622000													8	103					0.0477658	0.0487787	1	1	0
PRAME	23532	broad.mit.edu	37	22	22890546	22890546	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:22890546C>A	ENST00000543184.1	-	5	2335	c.1473G>T	c.(1471-1473)ggG>ggT	p.G491G	PRAME_ENST00000539862.1_Silent_p.G475G|PRAME_ENST00000398743.2_Silent_p.G491G|PRAME_ENST00000398741.1_Silent_p.G491G|PRAME_ENST00000405655.3_Silent_p.G491G|PRAME_ENST00000402697.1_Silent_p.G491G|PRAME_ENST00000424204.2_Silent_p.G475G	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	491	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.G491G(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGGTTCTGTCCCCACAGTGAG	0.557000													39	356					1.41504e-22	2.6509e-22	1	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183407	39183407	+	Translation_Start_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39183407T>C	ENST00000361883.5	-	1	47	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	1						keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCAGGTCATGGTGTCAGAA	0.527000													4	83					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3682645	3682645	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:3682645T>A	ENST00000250693.1	+	4	987		c.e4+2			NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1						protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	p.?(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	ATAATTCAGGTAAGGGCTGCA	0.468000													10	91					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319454	21319454	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:21319454C>A	ENST00000583088.1	+	3	1695	c.800C>A	c.(799-801)cCc>cAc	p.P267H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P267H	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.P267H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CTGGTGTCGCCCATCACCATC	0.607000										Prostate(3;0.18)			18	158					9.16793e-09	1.22639e-08	1	1	0
C2orf53	339779	broad.mit.edu	37	2	27360383	27360383	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27360383G>T	ENST00000335524.3	-	3	1340	c.815C>A	c.(814-816)cCc>cAc	p.P272H		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	272								p.P272H(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCAGCCGGGGTCCAGTCCT	0.677000													7	89					0.00198382	0.00211837	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61621389	61621389	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:61621389G>T	ENST00000583023.1	+	11	2261	c.2250G>T	c.(2248-2250)ctG>ctT	p.L750L	KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000314672.5_Intron|KCNH6_ENST00000456941.2_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	750					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCCATGAGCTGGGGCCCCAGT	0.637000													5	17					0.000602214	0.00065735	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55718275	55718275	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:55718275G>A	ENST00000376350.3	-	3	156	c.134C>T	c.(133-135)tCc>tTc	p.S45F	PTPRH_ENST00000263434.5_Missense_Mutation_p.S45F|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	45	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGGAGATGGAGCTGGTGGT	0.557000													14	118					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981651	92981651	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:92981651G>C	ENST00000268164.3	+	4	596	c.359G>C	c.(358-360)gGa>gCa	p.G120A	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G99A	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	120					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G120A(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGAAGCCTGGAGATATTATT	0.448000													38	333					0	0	1	0	0
FAM209A	200232	broad.mit.edu	37	20	55100027	55100027	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:55100027T>C	ENST00000371328.3	+	1	486	c.163T>C	c.(163-165)Tgg>Cgg	p.W55R	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A									p.W55L(1)									CACCCAAGGCTGGCTTGGGAG	0.498000													9	278					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433202	55433202	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55433202G>T	ENST00000314259.3	+	1	589	c.560G>T	c.(559-561)tGc>tTc	p.C187F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C187L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACACTTGCCTGCACGGACACC	0.428000													48	197					1.22102e-19	2.21152e-19	1	1	0
GNAS	2778	broad.mit.edu	37	20	57430252	57430252	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:57430252G>A	ENST00000306120.3	+	1	1742	c.1742G>A	c.(1741-1743)aGc>aAc	p.S581N	GNAS_ENST00000371099.2_Silent_p.K644K|GNAS_ENST00000371100.4_Silent_p.K644K|GNAS_ENST00000371102.4_Silent_p.K644K|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.K644K(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGCGGAGAAGCGCAGACAGA	0.582000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			9	36					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175321	140175321	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140175321G>T	ENST00000526136.1	+	1	772	c.772G>T	c.(772-774)Ggg>Tgg	p.G258W	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G258W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G258W	NM_018905.2	NP_061728.1												p.G258W(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGGCAAATGGGACCTTAGT	0.388000													18	187					8.00594e-06	9.53107e-06	1	1	0
SLC22A7	10864	broad.mit.edu	37	6	43266099	43266099	+	Translation_Start_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:43266099G>T	ENST00000372585.5	+	1	98	c.3G>T	c.(1-3)atG>atT	p.M1I	SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Start_Codon_SNP_p.M1I|SLC22A7_ENST00000372574.3_Start_Codon_SNP_p.M1I	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	1						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.M1I(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGAGCAGCATGGGCTTTGAGG	0.612000													11	47					3.07112e-06	3.71743e-06	1	1	0
FLG2	388698	broad.mit.edu	37	1	152326453	152326453	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152326453G>T	ENST00000388718.5	-	3	3881	c.3809C>A	c.(3808-3810)tCt>tAt	p.S1270Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1270	Ser-rich.						calcium ion binding|structural molecule activity	p.S1270Y(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTTGGCTAGATCTTCGTCT	0.453000													62	582					2.43698e-19	4.37836e-19	1	1	0
INTS4	92105	broad.mit.edu	37	11	77671419	77671419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:77671419C>A	ENST00000534064.1	-	6	710	c.676G>T	c.(676-678)Gga>Tga	p.G226*	INTS4_ENST00000529807.1_Nonsense_Mutation_p.G226*	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	226					snRNA processing	integrator complex	protein binding	p.G226L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AATTTCAGTCCTCTTTCATGG	0.398000													19	173					6.21321e-17	1.07085e-16	1	1	0
WDPCP	51057	broad.mit.edu	37	2	63401863	63401863	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:63401863A>T	ENST00000409120.1	-	9	4994	c.1444T>A	c.(1444-1446)Tct>Act	p.S482T	WDPCP_ENST00000272321.7_Missense_Mutation_p.S674T|WDPCP_ENST00000409199.1_Missense_Mutation_p.S482T|WDPCP_ENST00000398544.3_Missense_Mutation_p.S515T			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	674					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.S674T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GTTGGGCAAGAGGGAGGGAGG	0.423000													13	129					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20039416	20039416	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:20039416G>T	ENST00000400230.2	-	9	699	c.655C>A	c.(655-657)Cta>Ata	p.L219I	TPTE2_ENST00000382975.4_Missense_Mutation_p.L179I|TPTE2_ENST00000382978.1_Missense_Mutation_p.L179I|TPTE2_ENST00000255310.6_Missense_Mutation_p.L142I|TPTE2_ENST00000457266.2_Missense_Mutation_p.L108I|TPTE2_ENST00000382977.4_Missense_Mutation_p.L219I|TPTE2_ENST00000400103.2_Missense_Mutation_p.L108I|TPTE2_ENST00000390680.2_Missense_Mutation_p.L142I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	219	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L219I(1)|p.L142I(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGAGGTCTAGGTCAAATCCA	0.313000													28	281					2.61193e-14	4.23426e-14	1	1	0
EBF3	253738	broad.mit.edu	37	10	131755543	131755543	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:131755543G>C	ENST00000368648.3	-	6	605	c.533C>G	c.(532-534)tCa>tGa	p.S178*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.S178*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	178					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.S178*(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TACAGGGTCTGAGGGCGTTTC	0.423000													37	172					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62320619	62320619	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:62320619C>A	ENST00000261517.5	-	6	459	c.385_splice	c.e6-1	p.G129_splice	VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Splice_Site_p.G129_splice	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	129					protein localization			p.?(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAATGTGTGCCTGCATCCCA	0.338000													17	85					5.35267e-07	6.73816e-07	1	1	0
PSKH2	85481	broad.mit.edu	37	8	87076623	87076623	+	Silent	SNP	G	G	T	rs139789006	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:87076623G>T	ENST00000276616.2	-	2	497	c.423C>A	c.(421-423)acC>acA	p.T141T	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	141	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.T141T(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GCTCCCCTCCGGTAGCCAGCT	0.522000													14	101					0.00244969	0.00261244	1	1	0
DNAH8	1769	broad.mit.edu	37	6	38980322	38980322	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:38980322T>A	ENST00000359357.3	+	89	13226	c.12972T>A	c.(12970-12972)acT>acA	p.T4324T	DNAH8_ENST00000441566.1_Silent_p.T4288T					dynein, axonemal, heavy chain 8									p.T4324T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTGGTTCACTGAACTTTTGG	0.438000													27	318					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31812322	31812322	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:31812322G>T	ENST00000419022.1	-	13	1629	c.1161C>A	c.(1159-1161)acC>acA	p.T387T	PAX6_ENST00000241001.8_Silent_p.T373T|PAX6_ENST00000379111.2_Silent_p.T373T|PAX6_ENST00000379107.2_Silent_p.T387T|PAX6_ENST00000379115.4_Silent_p.T387T|PAX6_ENST00000379123.5_Silent_p.T373T|PAX6_ENST00000379132.3_Silent_p.T373T|PAX6_ENST00000379129.2_Silent_p.T387T	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	373	Pro/Ser/Thr-rich.		G -> D.		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	p.T387T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TATGTGGGGGGGTGTAGGTAT	0.592000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				14	109					7.93312e-07	9.82539e-07	1	1	0
ALDH16A1	126133	broad.mit.edu	37	19	49964950	49964950	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:49964950G>T	ENST00000293350.4	+	6	815	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.G53C|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.G55C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.G218C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	218							oxidoreductase activity|protein binding	p.G218C(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGGGAGCTGGGCCCCTTCCC	0.721000													5	17					0.000602214	0.00065735	1	1	0
STK32B	55351	broad.mit.edu	37	4	5332984	5332984	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:5332984G>C	ENST00000282908.5	+	4	720	c.298G>C	c.(298-300)Gtg>Ctg	p.V100L	STK32B_ENST00000512636.1_Missense_Mutation_p.V53L|STK32B_ENST00000510398.1_Missense_Mutation_p.V53L	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	100	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.V100L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GTTCATGGTGGTGGACCTGCT	0.552000													25	121					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	92006263	92006263	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:92006263C>A	ENST00000450295.1	-	9	1466	c.690G>T	c.(688-690)agG>agT	p.R230S	SEMA4D_ENST00000438547.2_Missense_Mutation_p.R230S|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R230S|SEMA4D_ENST00000422704.2_Missense_Mutation_p.R230S|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R230S|SEMA4D_ENST00000420987.1_Missense_Mutation_p.R230S|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R230S|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R230S			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	230	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.R230I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						AGAAGTAGACCCTGTCATCCT	0.532000													25	155					9.57634e-11	1.39747e-10	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150647499	150647499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:150647499C>A	ENST00000392968.2	-	7	2987	c.1867G>T	c.(1867-1869)Ggc>Tgc	p.G623C	KCNH2_ENST00000430723.3_Missense_Mutation_p.G719C|KCNH2_ENST00000330883.4_Missense_Mutation_p.G379C|KCNH2_ENST00000262186.5_Missense_Mutation_p.G719C			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	719					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.G719C(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCAGGGAAGCCCTTCAGCACC	0.652000													9	115					0.000274275	0.000302072	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58572800	58572800	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:58572800C>A	ENST00000317147.5	-	36	5343	c.5011G>T	c.(5011-5013)Gat>Tat	p.D1671Y	CNOT1_ENST00000569240.1_Missense_Mutation_p.D1666Y|CNOT1_ENST00000245138.4_Missense_Mutation_p.D522Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1671					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.D1671Y(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTTGTGGCATCTAGTAAGCCC	0.502000													12	96					6.72482e-11	9.86629e-11	1	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88890507	88890507	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:88890507T>C	ENST00000303236.3	-	5	1132	c.831A>G	c.(829-831)ggA>ggG	p.G277G	EIF2AK3_ENST00000419748.1_Silent_p.G126G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	277					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTCAATAAATCCGGCTCTCG	0.368000													6	179					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13719974	13719974	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:13719974G>T	ENST00000279593.3	-	12	2792	c.2583C>A	c.(2581-2583)gtC>gtA	p.V861V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	861					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.V861V(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATGGAGAAGACCATGCCAG	0.478000													14	136					7.93312e-07	9.82539e-07	1	1	0
GATA6	2627	broad.mit.edu	37	18	19751182	19751182	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:19751182C>A	ENST00000269216.3	+	2	354	c.77C>A	c.(76-78)gCc>gAc	p.A26D	GATA6_ENST00000581694.1_Missense_Mutation_p.A26D	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	26					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GACTCCAGAGCCTTTCCAGCG	0.741000													4	53					0.184627	0.186449	1	1	0
GABBR1	2550	broad.mit.edu	37	6	29599290	29599290	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29599290G>A	ENST00000377034.4	-	3	507	c.172C>T	c.(172-174)Cca>Tca	p.P58S	GABBR1_ENST00000377016.4_Missense_Mutation_p.P58S|GABBR1_ENST00000376977.3_Missense_Mutation_p.P58S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	58	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.P58S(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TAGTCCACTGGCAGGAAGTTG	0.617000													20	376					0	0	1	0	0
FAM209A	200232	broad.mit.edu	37	20	55100028	55100028	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:55100028G>T	ENST00000371328.3	+	1	487	c.164G>T	c.(163-165)tGg>tTg	p.W55L	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A									p.W55L(1)									ACCCAAGGCTGGCTTGGGAGC	0.493000													10	274					3.86212e-05	4.42621e-05	1	1	0
ACOT6	641372	broad.mit.edu	37	14	74086095	74086095	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:74086095C>G	ENST00000381139.1	+	2	507	c.176C>G	c.(175-177)cCt>cGt	p.P59R	RP3-414A15.10_ENST00000555011.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	59						cytosol	carboxylesterase activity	p.P59R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ATGATTATTCCTAAACTTGTC	0.403000													70	117					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443107	4443107	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:4443107G>A	ENST00000254718.4	-	26	3896	c.3590C>T	c.(3589-3591)cCt>cTt	p.P1197L	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.P1197L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1197	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	p.P1197L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGTGGCTGCAGGTGTGCCATC	0.602000													86	191					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112310	248112310	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248112310G>T	ENST00000357191.3	+	1	151	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D51Y(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCTTCTTGGACACCCATCT	0.408000													70	760					1.25742e-37	2.6105e-37	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19753702	19753702	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:19753702C>A	ENST00000400113.3	-	2	109	c.3_splice	c.e2-1	p.R2_splice		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	2					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R2L(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GATACACTCACGCTGTGAACC	0.433000													15	97					1.3612e-06	1.67239e-06	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109692040	109692040	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:109692040G>A	ENST00000277225.5	+	3	6136	c.5847_splice	c.e3+1	p.R1949_splice	ZNF462_ENST00000457913.1_Splice_Site_p.R1949_splice|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000441147.2_Splice_Site_p.R794_splice			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1949					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1949R(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAAGAGAGGGTAAGGATAT	0.493000													5	75					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99019735	99019735	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:99019735T>A	ENST00000254898.5	+	10	1710	c.1479T>A	c.(1477-1479)caT>caA	p.H493Q	MATN2_ENST00000524308.1_Missense_Mutation_p.H452Q|MATN2_ENST00000522025.2_Missense_Mutation_p.H209Q|MATN2_ENST00000521689.1_Missense_Mutation_p.H493Q|MATN2_ENST00000520016.1_Missense_Mutation_p.H493Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	493	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding	p.H493Q(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAGTGACCATGGTTGTGAAT	0.532000													85	110					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68643001	68643001	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:68643001C>G	ENST00000423218.2	-	9	1109	c.1014G>C	c.(1012-1014)ttG>ttC	p.L338F	ITGA11_ENST00000315757.7_Missense_Mutation_p.L338F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	338	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.L338F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CAATGTCCTTCAAGGCAGCCT	0.483000													14	124					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224537	248224537	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248224537C>A	ENST00000359959.3	+	1	554	c.554C>A	c.(553-555)aCt>aAt	p.T185N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T185N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCAATGGTGACTCTGGCCTGC	0.463000													33	318					2.42023e-17	4.1978e-17	1	1	0
ZNF155	7711	broad.mit.edu	37	19	44500732	44500732	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44500732C>G	ENST00000270014.2	+	5	851	c.723C>G	c.(721-723)ttC>ttG	p.F241L	ZNF155_ENST00000590615.1_Missense_Mutation_p.F241L|ZNF155_ENST00000407951.2_Missense_Mutation_p.F252L	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	241						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F241L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAAAGGTTTCAGTCGTAGAT	0.433000													53	224					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115526214	115526214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:115526214G>A	ENST00000361048.1	+	3	400	c.73G>A	c.(73-75)Gat>Aat	p.D25N	PLEKHS1_ENST00000369312.4_5'UTR|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.D19N	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1									p.D25N(1)									CTGCAAACAAGATTACTTTAT	0.348000													10	159					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145847	170145847	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:170145847C>T	ENST00000328939.4	+	2	684	c.147C>T	c.(145-147)acC>acT	p.T49T	KCNIP1_ENST00000520740.1_Silent_p.T21T|KCNIP1_ENST00000434108.1_Silent_p.T49T|KCNIP1_ENST00000377360.4_Silent_p.T58T|KCNIP1_ENST00000411494.1_Silent_p.T60T|KCNIP1_ENST00000390656.4_Silent_p.T49T	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	60	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.T58T(1)|p.T60T(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACTTCACCAAGAGGGAGC	0.572000													27	112					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54791332	54791332	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:54791332G>T	ENST00000306858.7	+	3	724	c.609_splice	c.e3+1	p.R203_splice		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	203								p.R203M(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGCGTCTCAGGGTAAGAATT	0.323000													14	108					4.3838e-07	5.52985e-07	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861975	52861975	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:52861975A>G	ENST00000343457.3	-	4	1219	c.1213T>C	c.(1213-1215)Tgg>Cgg	p.W405R		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	405						integral to membrane		p.W405R(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTTTGCCACAGTCTGTCA	0.562000													10	138					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53137994	53137994	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:53137994T>A	ENST00000296292.3	-	10	1138	c.1077A>T	c.(1075-1077)ggA>ggT	p.G359G	RFT1_ENST00000394738.3_Silent_p.G320G	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	359					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.G359G(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		GCATGGTCCCTCCGTAGATAT	0.488000													25	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018138	9018138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9018138C>G	ENST00000397910.4	-	25	38003	c.37800G>C	c.(37798-37800)ttG>ttC	p.L12600F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12602	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L12600F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACCTGAGCAAGGTCAGTC	0.512000													35	150					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059632	141059632	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:141059632G>A	ENST00000239440.4	-	2	487	c.422C>T	c.(421-423)tCc>tTc	p.S141F	ARAP3_ENST00000508305.1_Missense_Mutation_p.S63F	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	141					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.S141F(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTCAGAGGAGGAAGTGGGGAG	0.617000													33	398					0	0	1	0	0
ELP6	54859	broad.mit.edu	37	3	47543343	47543343	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:47543343T>A	ENST00000296149.4	-	5	494		c.e5-2		ELP6_ENST00000446787.1_Splice_Site|ELP6_ENST00000439305.1_Splice_Site	NM_001031703.2	NP_001026873.2			elongator acetyltransferase complex subunit 6									p.?(1)									TTAGCCTCCCTGGAGAGACAG	0.517000													7	29					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709059	77709059	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:77709059G>T	ENST00000328313.5	+	3	838	c.617G>T	c.(616-618)gGc>gTc	p.G206V		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	206					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACAGGTACGGCCCCGAGTCC	0.657000													5	111					1.23904e-05	1.45532e-05	1	1	0
CFHR5	81494	broad.mit.edu	37	1	196977662	196977662	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:196977662A>G	ENST00000367414.5	+	10	1687	c.1631A>G	c.(1630-1632)cAg>cGg	p.Q544R	CFHR5_ENST00000256785.4_Missense_Mutation_p.Q520R	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	520	Sushi 9.				complement activation, alternative pathway	extracellular region		p.Q520R(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AATAACATACAGTTAAAATGG	0.313000													14	46					0	0	1	0	0
FGF13	2258	broad.mit.edu	37	X	137715148	137715148	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:137715148C>A	ENST00000315930.6	-	5	1263		c.e5-1		FGF13_ENST00000441825.2_Splice_Site|FGF13_ENST00000370603.3_Splice_Site|FGF13_ENST00000305414.4_Splice_Site|FGF13_ENST00000541469.1_Splice_Site	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13						cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.?(4)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TACATGGCCACTGAAAAGCAC	0.468000													27	51					2.79863e-10	4.00784e-10	1	1	0
ASL	435	broad.mit.edu	37	7	65552346	65552346	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:65552346G>T	ENST00000304874.9	+	9	730	c.628G>T	c.(628-630)Ggt>Tgt	p.G210C	ASL_ENST00000395331.3_Missense_Mutation_p.G210C|ASL_ENST00000395332.3_Missense_Mutation_p.G210C|ASL_ENST00000380839.4_Missense_Mutation_p.G184C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	210					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.G210C(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CAATCCCCTGGGTGTGGACCG	0.627000													29	123					5.77227e-19	1.02954e-18	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141812791	141812791	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141812791C>G	ENST00000389484.3	-	10	2417	c.1446G>C	c.(1444-1446)atG>atC	p.M482I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	482					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.M482I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCCCCCTGGCATTCCATATG	0.443000										TSP Lung(27;0.18)			13	109					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88330421	88330421	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:88330421T>C	ENST00000418177.2	-	6	1861	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E	GRM5_ENST00000305432.5_Silent_p.E498E|GRM5_ENST00000393297.1_Silent_p.E498E|GRM5_ENST00000305447.4_Silent_p.E498E|GRM5_ENST00000455756.2_Silent_p.E498E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	498					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.E498E(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGGACCATACTTCATCATCAT	0.343000													27	103					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001138	27001138	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27001138G>A	ENST00000344420.5	+	6	937	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC35F6_ENST00000416475.2_Missense_Mutation_p.R209H|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6									p.R292H(1)									GCCACCACCCGCATGGTGTTG	0.597000													43	199					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43174846	43174846	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:43174846G>T	ENST00000509634.1	+	7	1837	c.1381G>T	c.(1381-1383)Gtg>Ttg	p.V461L	ZNF131_ENST00000306938.4_Missense_Mutation_p.V461L|ZNF131_ENST00000505606.2_Missense_Mutation_p.V461L|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.V495L|ZNF131_ENST00000399534.1_Missense_Mutation_p.V495L			P52739	ZN131_HUMAN	zinc finger protein 131	495						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V461L(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ACAAGTGACTGTGGAACAAGT	0.478000													24	59					9.57634e-11	1.39747e-10	1	1	0
HECW1	23072	broad.mit.edu	37	7	43547716	43547716	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:43547716T>A	ENST00000395891.1	+	23	4457	c.3852T>A	c.(3850-3852)ttT>ttA	p.F1284L	HECW1_ENST00000453890.1_Missense_Mutation_p.F1250L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1284	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.F1263L(1)|p.F1284L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACGTCACCTTTGTTGGAGAGG	0.532000													11	85					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13260371	13260371	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:13260371G>A	ENST00000262487.3	+	3	475	c.469G>A	c.(469-471)Gac>Aac	p.D157N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	157						extracellular region		p.D157N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCCATCCCCCGACTGGCGGGC	0.572000													9	84					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095278	145095278	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:145095278C>A	ENST00000377470.3	+	2	782	c.680C>A	c.(679-681)cCa>cAa	p.P227Q	SPATC1_ENST00000447830.2_Missense_Mutation_p.P227Q	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	227								p.P227Q(1)|p.P136Q(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGAGGCCCCAAGGCTGCGG	0.667000													11	109					3.86212e-05	4.42621e-05	1	1	0
PADI3	51702	broad.mit.edu	37	1	17593246	17593246	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:17593246C>A	ENST00000375460.3	+	5	481	c.441C>A	c.(439-441)ggC>ggA	p.G147G		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	147					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.G147G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGGGTATGGCGGCATCTTGC	0.597000													18	198					5.26018e-13	8.28672e-13	1	1	0
VCAN	1462	broad.mit.edu	37	5	82832966	82832966	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82832966G>C	ENST00000265077.3	+	8	4709	c.4144G>C	c.(4144-4146)Gac>Cac	p.D1382H	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.D395H	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1382	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.D1382H(1)		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)		AATTGAAATAGACCTATACCA	0.383000													17	78					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71497577	71497577	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71497577C>A	ENST00000396073.3	+	4	416	c.135C>A	c.(133-135)ccC>ccA	p.P45P		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	45					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.P45P(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGCACATGCCCCGAATGCCTG	0.418000													23	239					8.24728e-16	1.39021e-15	1	1	0
ZNF135	7694	broad.mit.edu	37	19	58579104	58579104	+	Missense_Mutation	SNP	G	G	T	rs148350290		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58579104G>T	ENST00000506786.1	+	5	1680	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S	ZNF135_ENST00000439855.2_Missense_Mutation_p.A418S|ZNF135_ENST00000401053.4_Missense_Mutation_p.A442S|ZNF135_ENST00000313434.5_Missense_Mutation_p.A418S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.A430S			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	430					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.A418S(1)|p.A442S(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGTGGGAAAGCCTTCAGTCA	0.537000													23	73					6.44725e-10	9.07939e-10	1	1	0
XRCC1	7515	broad.mit.edu	37	19	44058904	44058904	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44058904G>C	ENST00000262887.5	-	4	855	c.308C>G	c.(307-309)tCa>tGa	p.S103*	XRCC1_ENST00000543982.1_Nonsense_Mutation_p.S72*|L34079.3_ENST00000597119.1_RNA|L34079.2_ENST00000594374.1_Silent_p.L111L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	103					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	p.S103*(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GTTGGGGTTTGAGCCACTGCG	0.602000								Other BER factors					36	371					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021978	5021978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5021978C>A	ENST00000382545.3	+	2	2541	c.1434C>A	c.(1432-1434)tgC>tgA	p.C478*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	478					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.C478*(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCCAATTGCACCACTGCTA	0.403000													33	323					7.33879e-07	9.19595e-07	1	1	0
KRT14	3861	broad.mit.edu	37	17	39740108	39740108	+	Silent	SNP	G	G	T	rs149919875		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39740108G>T	ENST00000167586.6	-	4	917	c.831C>A	c.(829-831)ggC>ggA	p.G277G		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	277	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TCAGGTCCACGCCAGGTGCAG	0.567000													13	322					1.5842e-08	2.10769e-08	1	1	0
A1CF	29974	broad.mit.edu	37	10	52566492	52566492	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:52566492G>T	ENST00000395489.2	-	15	2157	c.1761C>A	c.(1759-1761)ttC>ttA	p.F587L	A1CF_ENST00000374001.1_Missense_Mutation_p.F586L|A1CF_ENST00000373995.3_Missense_Mutation_p.F594L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.F594L|A1CF_ENST00000373993.1_Missense_Mutation_p.F594L|A1CF_ENST00000373997.3_Missense_Mutation_p.F586L|A1CF_ENST00000395495.1_Missense_Mutation_p.F539L	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	594					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.F594L(1)|p.F586L(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGCATCTTCAGAAGGTGCCAT	0.378000													30	78					4.15321e-07	5.27147e-07	1	1	0
DRGX	644168	broad.mit.edu	37	10	50594758	50594758	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50594758C>A	ENST00000374139.2	-	4	391	c.381G>T	c.(379-381)cgG>cgT	p.R127R	DRGX_ENST00000434016.1_Silent_p.R132R			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	132					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CCTTCTTACTCCGGGCTTGGT	0.657000													6	88					5.9392e-07	7.4574e-07	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126735383	126735383	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:126735383G>T	ENST00000251772.4	+	15	3038	c.2969G>T	c.(2968-2970)tGc>tTc	p.C990F	PLXNA1_ENST00000393409.2_Missense_Mutation_p.C1013F			Q9UIW2	PLXA1_HUMAN	plexin A1	1013	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.C990F(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAGATCCGGTGCCTGACACCC	0.622000													22	177					1.96292e-10	2.82091e-10	1	1	0
LRP2	4036	broad.mit.edu	37	2	170042197	170042197	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:170042197G>A	ENST00000263816.3	-	50	9946	c.9661C>T	c.(9661-9663)Ctc>Ttc	p.L3221F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3221					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.L3221F(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCAAGATGAGGGAGTAAAAA	0.388000													25	251					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44464305	44464305	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:44464305G>T	ENST00000441843.1	+	6	1674	c.1189G>T	c.(1189-1191)Gat>Tat	p.D397Y	LACC1_ENST00000325686.6_Missense_Mutation_p.D397Y	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	397																	CCAGAACCAAGATCTCAACCT	0.383000													12	170					6.72482e-11	9.86629e-11	1	1	0
CCDC180	100499483	broad.mit.edu	37	9	100090327	100090327	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:100090327A>G	ENST00000375202.2	+	30	3171	c.1819A>G	c.(1819-1821)Aca>Gca	p.T607A	CCDC180_ENST00000357054.1_Missense_Mutation_p.T746A|CCDC180_ENST00000529487.1_Missense_Mutation_p.T607A|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.T604A|CCDC180_ENST00000460482.2_3'UTR					coiled-coil domain containing 180									p.T746A(1)|p.T607A(1)									CACCCTCCTGACAAAGGAAGT	0.502000													33	292					0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136282883	136282883	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:136282883G>A	ENST00000371942.3	-	1	281	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.R28W	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	28						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTTCTTCCGAGTGAGCGTC	0.612000													5	244					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119731985	119731985	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:119731985C>T	ENST00000541757.1	+	6	683	c.303C>T	c.(301-303)gcC>gcT	p.A101A	MARCO_ENST00000327097.4_Silent_p.A179A			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	179					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGAAGGGAGCCAAGGGGGCTA	0.567000													4	45					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769381	57769381	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:57769381C>T	ENST00000371030.2	+	1	3307	c.3307C>T	c.(3307-3309)Ctg>Ttg	p.L1103L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1103						intracellular	nucleic acid binding|zinc ion binding	p.L1103L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAACTGGGAGCTGGGGGAGCC	0.652000													34	121					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44879819	44879819	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:44879819C>A	ENST00000372262.3	-	1	515	c.115G>T	c.(115-117)Gcg>Tcg	p.A39S	CDH22_ENST00000537909.1_Missense_Mutation_p.A39S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	39					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGTGTGCCCGCTGCCCACAGG	0.756000													8	13					2.17888e-05	2.53377e-05	1	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163123	163123	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:163123G>T	ENST00000283426.6	+	11	1918	c.1868G>T	c.(1867-1869)cGt>cTt	p.R623L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	623					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGCATGAGCGTGCCCAGGAG	0.672000													3	15					0.115264	0.117124	1	1	0
TMEM119	338773	broad.mit.edu	37	12	108985493	108985493	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:108985493C>A	ENST00000392806.3	-	2	835	c.667G>T	c.(667-669)Ggg>Tgg	p.G223W		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	223						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACTGGGACCCCATGTCCCTGG	0.692000													9	172					0.00829132	0.00865426	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22807248	22807248	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:22807248G>T	ENST00000361524.3	-	4	782	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	ZNF521_ENST00000584787.1_De_novo_Start_InFrame|ZNF521_ENST00000538137.2_Missense_Mutation_p.L212M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	212					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.L212M(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTAGAGGACAGAAACCCACGG	0.488000			T	PAX5	ALL								11	72					2.27111e-07	2.89758e-07	1	1	0
KPRP	448834	broad.mit.edu	37	1	152732303	152732303	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152732303A>T	ENST00000368773.1	+	2	297	c.239A>T	c.(238-240)cAg>cTg	p.Q80L	KPRP_ENST00000606109.1_Missense_Mutation_p.Q80L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	80	Gln-rich.					cytoplasm		p.Q80L(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACCAAGCAGGTGAAGGGC	0.557000													23	419					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77756539	77756539	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:77756539G>T	ENST00000354212.4	-	19	3651	c.3398C>A	c.(3397-3399)cCt>cAt	p.P1133H	MAGI2_ENST00000419488.1_Missense_Mutation_p.P1119H|MAGI2_ENST00000522391.1_Missense_Mutation_p.P1133H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1133						cell junction|synapse|synaptosome	phosphatase binding	p.P1133H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTCCGACAGAGGGTACTGCCT	0.617000													61	236					2.19297e-23	4.13666e-23	1	1	0
POMZP3	22932	broad.mit.edu	37	7	76254966	76254966	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:76254966G>T	ENST00000310842.4	-	3	784	c.100C>A	c.(100-102)Cca>Aca	p.P34T	UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.P34T|AC004980.7_ENST00000418663.1_RNA	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	34								p.P34T(2)		kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				TTACTTGATGGTGAGGACAGT	0.413000													30	394					1.7881e-09	2.47274e-09	1	1	0
HIP1	3092	broad.mit.edu	37	7	75203140	75203140	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:75203140G>A	ENST00000336926.6	-	8	697	c.671C>T	c.(670-672)cCg>cTg	p.P224L	HIP1_ENST00000434438.2_Missense_Mutation_p.P224L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	224					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.P224L(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGGATCAGCGGGGCGAGGCG	0.542000			T	PDGFRB	CMML								25	103					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388252	26388252	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26388252A>T	ENST00000356709.4	+	4	565	c.454A>T	c.(454-456)Aag>Tag	p.K152*	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.K152*|BTN2A2_ENST00000469230.1_Nonsense_Mutation_p.K152*|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.K36*	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	152					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		p.K152L(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCTTGGGTCTAAGCCCCTCAT	0.567000													20	89					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74976635	74976635	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:74976635C>T	ENST00000262144.6	-	7	665		c.e7+1			NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59									p.?(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGATTACTCACCCTCTTATCC	0.483000													16	51					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118719682	118719682	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:118719682T>C	ENST00000355371.4	-	4	729	c.232A>G	c.(232-234)Act>Gct	p.T78A	KIAA1598_ENST00000392903.2_Missense_Mutation_p.T78A|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Missense_Mutation_p.T78A|KIAA1598_ENST00000392901.4_Missense_Mutation_p.T18A	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	78					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCTCGACAAGTCTTCTCTATT	0.368000													7	95					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847496	7847496	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7847496A>T	ENST00000328375.1	-	1	23	c.24T>A	c.(22-24)acT>acA	p.T8T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCTACCACAGTGGTGTCAT	0.348000													11	88					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409387	10409387	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10409387C>A	ENST00000226207.5	-	18	2092	c.1998G>T	c.(1996-1998)ttG>ttT	p.L666F	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	666	Actin-binding (By similarity).|Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L666F(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGTGCTCCTCAAGTTGGTCA	0.388000													53	162					1.53582e-20	2.81072e-20	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16902845	16902845	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:16902845T>C	ENST00000430580.2	-	19	2923	c.2036A>G	c.(2035-2037)gAc>gGc	p.D679G	NBPF1_ENST00000432949.1_Missense_Mutation_p.D137G|NBPF1_ENST00000287968.8_Missense_Mutation_p.D44G	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	679						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGGGACTTGTCTGGCTCATC	0.582000													9	1821					0	0	1	0	0
TMEM55A	55529	broad.mit.edu	37	8	92008965	92008965	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:92008965C>A	ENST00000285419.3	-	6	861	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	183						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GCACTACCCACTGAGGAGCTG	0.348000													4	21					3.59834e-05	4.14518e-05	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944330	55944330	+	Silent	SNP	C	C	A	rs35777813		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55944330C>A	ENST00000312298.1	+	1	237	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79P(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CAATTGCACCCAAAATGCTGG	0.443000													37	282					1.42033e-22	2.65677e-22	1	1	0
ZBTB2	57621	broad.mit.edu	37	6	151694769	151694769	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:151694769C>A	ENST00000325144.4	-	2	144	c.4G>T	c.(4-6)Gat>Tat	p.D2Y		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D2Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTGGCCAAATCCATTTTTTAA	0.373000													5	66					0.014758	0.0152742	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37291209	37291209	+	Silent	SNP	G	G	A	rs138685291	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:37291209G>A	ENST00000373091.3	-	11	1765	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	GRIK3_ENST00000373093.4_Silent_p.I583I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	583					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.I583I(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTTACCTGGCGATGACGAAGA	0.582000													10	40					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023680	6023680	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6023680G>C	ENST00000330728.4	-	1	744	c.699C>G	c.(697-699)atC>atG	p.I233M		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I233M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTACTGCAGATGCAGTTCT	0.463000													14	80					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74116137	74116137	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:74116137C>A	ENST00000370336.4	+	7	1016	c.858C>A	c.(856-858)gcC>gcA	p.A286A	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	286	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	p.A286A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TAGGAGTAGCCCAGACTGGAA	0.403000													8	81					0.000274275	0.000302072	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108641840	108641840	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:108641840A>C	ENST00000332082.4	+	10	2236	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	WSCD2_ENST00000547525.1_Missense_Mutation_p.K473T|WSCD2_ENST00000549903.1_Missense_Mutation_p.K493T|WSCD2_ENST00000261400.3_Missense_Mutation_p.K493T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	473						integral to membrane		p.K473T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AAGTTTGGCAAGAAGGTGCTG	0.602000													23	133					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404275	20404275	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20404275G>A	ENST00000285600.4	+	1	509	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTCCTGGGCGGTGGGCGTTC	0.463000													29	256					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43111812	43111812	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:43111812A>T	ENST00000428554.2	+	21	3040	c.1897A>T	c.(1897-1899)Aag>Tag	p.K633*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.K422*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.K422*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.K633*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.K633*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	633								p.K633*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTAGAATCTTAAGGAGTttcc	0.363000													15	69					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89882210	89882210	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89882210G>T	ENST00000534061.1	+	4	648	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	NAALAD2_ENST00000375944.3_Missense_Mutation_p.G140C|NAALAD2_ENST00000525171.1_Missense_Mutation_p.G140C|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G140C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	140					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.G140C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACCACCAGATGGCTATGAGAA	0.308000													24	285					4.72057e-08	6.17344e-08	1	1	0
UNG	7374	broad.mit.edu	37	12	109539805	109539805	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:109539805G>T	ENST00000336865.2	+	3	715		c.e3+1		UNG_ENST00000242576.2_Splice_Site	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase						base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CTCCGCCCAGGTACAGTTGCT	0.498000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				9	58					0.00448238	0.0047329	1	1	0
NOX3	50508	broad.mit.edu	37	6	155761165	155761165	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:155761165G>T	ENST00000159060.2	-	6	695	c.593C>A	c.(592-594)gCc>gAc	p.A198D		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	198	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.A198D(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTCATAGGAGGCCTGTCTGAT	0.507000													16	124					2.48551e-13	3.93325e-13	1	1	0
OR4F15	390649	broad.mit.edu	37	15	102358680	102358680	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:102358680T>A	ENST00000332238.4	+	1	315	c.291T>A	c.(289-291)tgT>tgA	p.C97*		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTCGGGGATGTATTACTCAGA	0.443000													42	187					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836345	247836345	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247836345C>A	ENST00000359688.2	-	0	20				RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGATTCATCCTGCTTGGGTG	0.398000													27	102					2.65835e-16	4.5214e-16	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21726801	21726801	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:21726801C>T	ENST00000328843.6	+	34	5758	c.5727C>T	c.(5725-5727)acC>acT	p.T1909T	DNAH11_ENST00000409508.3_Silent_p.T1902T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1909	AAA 1 (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						AAACAGAGACCACCAAAGACC	0.423000									Kartagener syndrome				8	38					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40747027	40747027	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:40747027C>T	ENST00000372759.3	+	7	947	c.782C>T	c.(781-783)tCt>tTt	p.S261F		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	261						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTAAACGCTCTTCCCACAGC	0.363000													14	264					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104115874	104115874	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:104115874G>T	ENST00000361355.4	+	5	1121	c.505G>T	c.(505-507)Gct>Tct	p.A169S	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	169					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.A169S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTACAATGATGCTACTCAGGT	0.363000													28	490					3.65163e-15	6.07204e-15	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133826881	133826881	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:133826881G>T	ENST00000395386.2	+	10	1229		c.e10-1		PHF20L1_ENST00000220847.7_Splice_Site|PHF20L1_ENST00000395390.2_Splice_Site|PHF20L1_ENST00000315808.10_Splice_Site|PHF20L1_ENST00000395383.1_Splice_Site|PHF20L1_ENST00000395382.3_Splice_Site	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			tatttattCAGGCGATTTCAC	0.313000													10	68					2.17888e-05	2.53377e-05	1	1	0
RELN	5649	broad.mit.edu	37	7	103138649	103138649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103138649C>T	ENST00000428762.1	-	54	8877	c.8718G>A	c.(8716-8718)tgG>tgA	p.W2906*	RELN_ENST00000343529.5_Nonsense_Mutation_p.W2906*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W2906*|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2906					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.W2906*(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTAAGGACATCCATAAGTCAG	0.418000													30	124					0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555397	125555397	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:125555397G>A	ENST00000522532.1	+	2	218	c.171G>A	c.(169-171)atG>atA	p.M57I	NDUFB9_ENST00000518008.1_Missense_Mutation_p.M57I|NDUFB9_ENST00000517367.1_Missense_Mutation_p.M46I|NDUFB9_ENST00000276689.3_Missense_Mutation_p.M57I			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	57					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	AAAAGGATATGGCGAAGGCCA	0.463000													15	105					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173702931	173702931	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:173702931G>A	ENST00000209884.4	+	3	239	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	35					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.E35K(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAAACTGCCAGAAGGGGTTCC	0.527000													43	156					0	0	1	0	0
HDGF	3068	broad.mit.edu	37	1	156714928	156714928	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:156714928C>A	ENST00000357325.5	-	3	489	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	HDGF_ENST00000537739.1_Missense_Mutation_p.G59C|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.G27C|HDGF_ENST00000368209.5_Missense_Mutation_p.G52C|HDGF_ENST00000368206.5_Missense_Mutation_p.G75C	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	59	PWWP.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	p.G59C(1)|p.G75C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TCTTTGGGGCCCAGGAATGCC	0.582000													31	88					1.61788e-16	2.7613e-16	1	1	0
STAT6	6778	broad.mit.edu	37	12	57496082	57496082	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57496082C>A	ENST00000300134.3	-	13	1828	c.1503G>T	c.(1501-1503)caG>caT	p.Q501H	STAT6_ENST00000543873.2_Missense_Mutation_p.Q501H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q391H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q501H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q391H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q501H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	501					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Q501H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCTTGTTGAACTGCGACCAGG	0.587000													65	273					1.77791e-30	3.56163e-30	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077427	32077427	+	RNA	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:32077427T>A	ENST00000354689.6	+	0	42				RP11-1166P10.6_ENST00000566806.1_RNA																							TGGTACAGCCTGGGGGGTCCC	0.577000													92	576					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647448	38647448	+	RNA	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:38647448A>G	ENST00000494540.1	+	0	314					NR_003086.1																						GCAAAGGTATATCTCTTGCTG	0.448000													5	51					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77632489	77632489	+	Missense_Mutation	SNP	C	C	A	rs147594639		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:77632489C>A	ENST00000407578.2	-	78	13459	c.13193G>T	c.(13192-13194)gGg>gTg	p.G4398V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.G4360V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G4360V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.G4398V(1)|p.C4360F(1)|p.G4360V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTAACACCCCCGCATGGATG	0.453000													14	174					4.36969e-10	6.17489e-10	1	1	0
TFEC	22797	broad.mit.edu	37	7	115614261	115614261	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:115614261T>A	ENST00000265440.7	-	3	410	c.230A>T	c.(229-231)gAg>gTg	p.E77V	TFEC_ENST00000393485.1_Intron|TFEC_ENST00000484212.1_Missense_Mutation_p.E167V|TFEC_ENST00000320239.7_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	77	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.E77V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGCTCCTTCCTCTTTAAAACT	0.333000													11	75					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126674906	126674906	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:126674906C>A	ENST00000274473.6	+	4	478	c.211C>A	c.(211-213)Cgg>Agg	p.R71R	MEGF10_ENST00000418761.2_Silent_p.R71R|MEGF10_ENST00000503335.2_Silent_p.R71R|MEGF10_ENST00000508365.1_Silent_p.R71R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	71	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.R71R(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TAAATGCACGCGGCACAGGTA	0.413000													34	81					9.65963e-10	1.35257e-09	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196398799	196398799	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:196398799C>A	ENST00000367433.5	-	9	828	c.727G>T	c.(727-729)Gtg>Ttg	p.V243L	KCNT2_ENST00000367431.4_Missense_Mutation_p.V243L|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.V243L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	243						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.V243L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CCGAAGCCCACAGTAGAAAAC	0.418000													27	92					6.32553e-13	9.92684e-13	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11098884	11098884	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:11098884C>A	ENST00000470054.1	-	0	41									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tcctggtcctctaagccggga	0.607000													5	48					4.096e-09	5.59498e-09	1	1	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116257	28116257	+	Silent	SNP	C	C	T	rs146729116	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:28116257C>T	ENST00000330236.6	+	2	256	c.72C>T	c.(70-72)atC>atT	p.I24I	ZKSCAN8_ENST00000457389.2_Silent_p.I24I	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8									p.I24I(1)									ATCTTGTAATCGTCAAGGTAG	0.502000													5	139					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155129839	155129839	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:155129839G>T	ENST00000367178.3	+	11	1709	c.1133G>T	c.(1132-1134)gGg>gTg	p.G378V	SCAF8_ENST00000417268.1_Missense_Mutation_p.G378V|SCAF8_ENST00000367186.4_Missense_Mutation_p.G444V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	378					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	p.G378V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATAGATGAAGGGCAAGATGGA	0.393000													6	76					2.0095e-06	2.45295e-06	1	1	0
ATP12A	479	broad.mit.edu	37	13	25266991	25266991	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:25266991G>T	ENST00000218548.6	+	10	1685	c.1352G>T	c.(1351-1353)cGa>cTa	p.R451L	ATP12A_ENST00000381946.3_Missense_Mutation_p.R445L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	445					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R445L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTGTGTAACCGAGCAGAGTTC	0.463000													75	409					1.92865e-43	4.03472e-43	1	1	0
SSMEM1	136263	broad.mit.edu	37	7	129855823	129855823	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:129855823A>T	ENST00000297819.3	+	3	299	c.248A>T	c.(247-249)gAg>gTg	p.E83V		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1									p.E83V(1)									GCAAGCAAAGAGACTTCCTGT	0.413000													19	108					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243462	13243462	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:13243462G>A	ENST00000337630.6	-	2	367	c.300C>T	c.(298-300)tcC>tcT	p.S100S	GSG1_ENST00000432710.2_Silent_p.S113S|GSG1_ENST00000396302.3_Silent_p.S100S|GSG1_ENST00000351606.6_Silent_p.S113S|GSG1_ENST00000457134.2_Silent_p.S100S|GSG1_ENST00000324458.8_Silent_p.S113S|GSG1_ENST00000537302.1_Silent_p.S100S|GSG1_ENST00000396310.2_Silent_p.S97S	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	100						endoplasmic reticulum membrane|integral to membrane		p.S113S(2)|p.S100S(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TTTCCTCACAGGATAGCCACA	0.542000													32	146					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62025295	62025295	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:62025295C>A	ENST00000578147.1	-	17	3349	c.3273G>T	c.(3271-3273)gtG>gtT	p.V1091V	SCN4A_ENST00000435607.1_Silent_p.V1091V			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1091					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1091V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGGTGAAGTACACCTTAAAGC	0.562000													30	58					1.30897e-18	2.32286e-18	1	1	0
KLHL7	55975	broad.mit.edu	37	7	23205441	23205441	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:23205441G>C	ENST00000322231.7	+	9	1485	c.995G>C	c.(994-996)tGc>tCc	p.C332S	KLHL7_ENST00000339077.4_Missense_Mutation_p.C354S|KLHL7_ENST00000545443.1_Missense_Mutation_p.C332S|KLHL7_ENST00000542558.1_Missense_Mutation_p.C129S|KLHL7_ENST00000409689.1_Missense_Mutation_p.C306S|KLHL7_ENST00000539124.1_Missense_Mutation_p.C278S			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	354						Golgi apparatus|nucleolus|plasma membrane		p.C332S(1)|p.C354S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAATGGACTGCTATAATGTA	0.453000													16	72					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118694	58118694	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:58118694C>A	ENST00000373944.3	-	6	533	c.495G>T	c.(493-495)caG>caT	p.Q165H	ZWINT_ENST00000395405.1_Missense_Mutation_p.Q165H|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Missense_Mutation_p.Q45H|ZWINT_ENST00000361148.6_Missense_Mutation_p.Q165H			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	165					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CCGCCAGATGCTGCAGATGCT	0.537000													5	146					0.217242	0.218667	1	1	0
ABHD16A	7920	broad.mit.edu	37	6	31657482	31657482	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31657482C>A	ENST00000461287.1	-	14	1362		c.e14-1		ABHD16A_ENST00000395952.3_Splice_Site|ABHD16A_ENST00000440843.2_Splice_Site|ABHD16A_ENST00000471644.1_Splice_Site|ABHD16A_ENST00000375842.4_Splice_Site																							ATGGCACCCCCTGCAGGAGAA	0.592000													7	65					2.17888e-05	2.53377e-05	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12837328	12837328	+	Silent	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:12837328T>G	ENST00000357726.4	+	3	1065	c.1038T>G	c.(1036-1038)gcT>gcG	p.A346A		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	346								p.A346A(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGCAAGCTGAGGCCACCC	0.602000													59	168					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103899654	103899654	+	Missense_Mutation	SNP	G	G	T	rs148379078		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:103899654G>T	ENST00000278070.2	+	5	1428	c.1389G>T	c.(1387-1389)aaG>aaT	p.K463N	PPRC1_ENST00000413464.2_Missense_Mutation_p.K463N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	463	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.K463N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGAAGAAGAAGAGCAAGGAGC	0.602000													32	113					7.63505e-26	1.47072e-25	1	1	0
ISX	91464	broad.mit.edu	37	22	35481642	35481642	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:35481642C>T	ENST00000308700.6	+	4	1646	c.694C>T	c.(694-696)Cct>Tct	p.P232S	ISX_ENST00000404699.2_Missense_Mutation_p.P232S	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P232S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CATCCTTCCACCTCCACACCC	0.547000													32	178					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036982	177036982	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:177036982C>T	ENST00000468418.3	+	4	3369	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	HOXD3_ENST00000410016.1_Missense_Mutation_p.P427S|HOXD3_ENST00000249440.3_Missense_Mutation_p.P427S			P31249	HXD3_HUMAN	homeobox D3	427					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P427S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCCGGAGGCTCCCAAACTGAC	0.637000													9	97					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25348978	25348978	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:25348978C>A	ENST00000255324.5	+	3	305	c.253C>A	c.(253-255)Cgc>Agc	p.R85S	RNF17_ENST00000255325.5_Missense_Mutation_p.R85S|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.R85S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	85					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.R85S(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTAGACAACGCTACTACCC	0.348000													5	79					0.000602214	0.00065735	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50736571	50736571	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50736571C>A	ENST00000355832.5	-	4	622	c.543_splice	c.e4-1	p.E182_splice	ERCC6-PGBD3_ENST00000515869.1_Splice_Site_p.E182_splice|ERCC6-PGBD3_ENST00000447839.2_Splice_Site_p.E182_splice|PGBD3_ENST00000603152.1_Splice_Site_p.E182_splice	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	182					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.E182*(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCTGTTGTTCCTTGAATGGT	0.348000								Direct reversal of damage;Nucleotide excision repair (NER)					18	42					2.35188e-11	3.50286e-11	1	1	0
VN1R4	317703	broad.mit.edu	37	19	53770647	53770647	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:53770647C>T	ENST00000311170.4	-	1	325	c.272G>A	c.(271-273)aGg>aAg	p.R91K		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	91					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R91K(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGACACTCCCCTGCCCACTCT	0.507000										HNSCC(26;0.072)			7	38					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369120	56369120	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56369120C>T	ENST00000301295.6	+	3	783	c.361C>T	c.(361-363)Cta>Tta	p.L121L	NLRP4_ENST00000346986.5_Silent_p.L121L|NLRP4_ENST00000587891.1_Silent_p.L46L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	121							ATP binding	p.L121L(1)|p.L121I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAGATTCACCTATACTTTGA	0.473000													42	114					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701251	56701251	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56701251T>A	ENST00000586855.2	-	5	1746	c.1433A>T	c.(1432-1434)cAg>cTg	p.Q478L	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q478L			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	478					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q478L(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCCCCAGCTGACGGAAGGC	0.547000													28	47					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882703	42882703	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:42882703C>A	ENST00000426548.1	-	3	752	c.483G>T	c.(481-483)aaG>aaT	p.K161N	GJC1_ENST00000590758.1_Missense_Mutation_p.K161N|GJC1_ENST00000592524.1_Missense_Mutation_p.K161N|GJC1_ENST00000330514.4_Missense_Mutation_p.K161N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	161					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		p.K161N(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GGCCATCATGCTTAGGTTTGG	0.478000													15	315					2.31682e-05	2.68149e-05	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15651463	15651463	+	Missense_Mutation	SNP	G	G	A	rs139163760		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:15651463G>A	ENST00000269703.2	+	8	1073	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CYP4F22_ENST00000601005.2_Missense_Mutation_p.E292K	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	292						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.E292K(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCAGGGGGCCGAGGCCTGGCT	0.652000													9	127					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93716298	93716298	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:93716298G>T	ENST00000265990.6	+	7	1023	c.715G>T	c.(715-717)Gat>Tat	p.D239Y		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	239					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.D239Y(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGATAGCACTGATGGGGAGCC	0.323000													22	46					6.33239e-15	1.04659e-14	1	1	0
INO80	54617	broad.mit.edu	37	15	41377614	41377614	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:41377614G>A	ENST00000361937.3	-	7	1250	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	INO80_ENST00000401393.3_Missense_Mutation_p.R276C			Q9ULG1	INO80_HUMAN	INO80 complex subunit	276	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCCTGCGACGAGCATTCAGC	0.473000													16	183					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28435016	28435016	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:28435016C>G	ENST00000394835.3	+	23	4678	c.4486C>G	c.(4486-4488)Cca>Gca	p.P1496A	EFCAB5_ENST00000394832.2_Missense_Mutation_p.P968A|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P1372A|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1496							calcium ion binding	p.P1496A(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353000													58	130					0	0	1	0	0
EVX2	344191	broad.mit.edu	37	2	176945442	176945442	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:176945442G>T	ENST00000308618.4	-	3	960	c.824C>A	c.(823-825)cCc>cAc	p.P275H		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	275						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GAAGGGGTAGGGCAGGCTTCC	0.726000													5	42					1.23904e-05	1.45532e-05	1	1	0
DPYSL5	56896	broad.mit.edu	37	2	27151173	27151173	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27151173G>T	ENST00000288699.6	+	5	809	c.651G>T	c.(649-651)gaG>gaT	p.E217D	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E217D	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	217					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAATCGAGATCAGCCGTC	0.493000													4	76					0.000602214	0.00065735	1	1	0
C14orf183	196913	broad.mit.edu	37	14	50550444	50550444	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:50550444G>A	ENST00000305273.1	-	5	899	c.900C>T	c.(898-900)tcC>tcT	p.S300S	RP11-58E21.5_ENST00000556019.2_lincRNA	NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	300								p.S300S(1)		endometrium(2)|large_intestine(2)|lung(3)	7						GAGGGGTGTGGGAGGAGACTG	0.532000													36	133					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290849	5290849	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5290849C>A	ENST00000380237.1	-	4	494	c.150G>T	c.(148-150)tcG>tcT	p.S50S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.S50S			P02100	HBE_HUMAN	hemoglobin, epsilon 1	50					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	p.S50S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGGGAGACGACAGGTTTC	0.463000													8	107					5.4927e-09	7.43255e-09	1	1	0
TMEM257	9142	broad.mit.edu	37	X	144909439	144909439	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:144909439G>T	ENST00000408967.2	+	1	512	c.244G>T	c.(244-246)Gag>Tag	p.E82*		NM_004709.2	NP_004700.1			transmembrane protein 257																		TAAGACGTATGAGCATCAGCA	0.398000													4	75					0.014758	0.0152742	1	1	0
OR8K5	219453	broad.mit.edu	37	11	55926935	55926935	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55926935G>T	ENST00000313447.1	-	1	858	c.859C>A	c.(859-861)Cct>Act	p.P287T		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAAATCAAAGGGTTAAGCATG	0.343000													15	94					2.32078e-09	3.19677e-09	1	1	0
UBE3A	7337	broad.mit.edu	37	15	25585362	25585362	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25585362T>A	ENST00000232165.3	-	12	3024	c.2368A>T	c.(2368-2370)Atc>Ttc	p.I790F	UBE3A_ENST00000397954.2_Missense_Mutation_p.I793F|UBE3A_ENST00000428984.2_Missense_Mutation_p.I770F|UBE3A_ENST00000438097.1_Missense_Mutation_p.I770F|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.I770F	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	793	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.I793F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GAATGAACGATTTCCCAGAAC	0.363000													17	80					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346841	71346841	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71346841C>G	ENST00000413702.1	+	4	668	c.380C>G	c.(379-381)cCa>cGa	p.P127R	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.P127R|MUC7_ENST00000456088.1_Missense_Mutation_p.P127R	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	127	Thr-rich.					extracellular region	protein binding	p.P127R(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTACCCTTCCAAATGTGACT	0.428000													23	155					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132302	8132302	+	Silent	SNP	G	G	A	rs17852022	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:8132302G>A	ENST00000396677.2	-	3	566	c.567C>T	c.(565-567)acC>acT	p.T189T	RIC3_ENST00000335425.7_Silent_p.T169T|RIC3_ENST00000539720.1_Silent_p.T302T|RIC3_ENST00000309737.6_Silent_p.T351T|RIC3_ENST00000425599.2_Silent_p.T270T|RIC3_ENST00000343202.4_Silent_p.T350T|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	351						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.T350T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATGCTTTATCGGTGCTGATGC	0.478000													24	182					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183960709	183960709	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:183960709C>A	ENST00000455059.1	-	8	1380	c.926G>T	c.(925-927)gGc>gTc	p.G309V	ALG3_ENST00000397676.3_Missense_Mutation_p.G349V|ALG3_ENST00000418734.2_Missense_Mutation_p.G293V|ALG3_ENST00000445626.2_Missense_Mutation_p.G301V|EIF2B5_ENST00000444495.1_Intron			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	349					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.G349V(1)|p.G301V(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGCAGATGCCAATGAAGTT	0.572000													9	65					0.0581538	0.0592884	1	1	0
LCE1E	353135	broad.mit.edu	37	1	152759971	152759971	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152759971G>T	ENST00000368770.3	+	2	249	c.196G>T	c.(196-198)Ggc>Tgc	p.G66C	LCE1E_ENST00000368771.1_Missense_Mutation_p.G66C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	66	Cys-rich.				keratinization			p.G66C(1)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCTGCTGCAG	0.672000													37	255					1.47244e-24	2.80989e-24	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139163907	139163907	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:139163907C>A	ENST00000395297.1	-	13	2981	c.2811G>T	c.(2809-2811)ttG>ttT	p.L937F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	937								p.L937F(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACGTACAGCTCAATTCAGGCA	0.488000										HNSCC(54;0.14)			17	158					2.5808e-16	4.39864e-16	1	1	0
MYLK	4638	broad.mit.edu	37	3	123452994	123452994	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:123452994C>A	ENST00000360772.3	-	11	1227	c.849G>T	c.(847-849)tcG>tcT	p.S283S	MYLK_ENST00000360304.3_Silent_p.S283S|MYLK_ENST00000359169.1_Silent_p.S283S|MYLK_ENST00000346322.5_Silent_p.S283S|MYLK_ENST00000475616.1_Silent_p.S283S			Q15746	MYLK_HUMAN	myosin light chain kinase	283					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.S283S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCCAGCTTCGACTCCTTTG	0.557000													33	106					2.08457e-15	3.48279e-15	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113326690	113326690	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113326690T>C	ENST00000297405.5	-	48	7761	c.7517A>G	c.(7516-7518)gAa>gGa	p.E2506G	CSMD3_ENST00000343508.3_Missense_Mutation_p.E2466G|CSMD3_ENST00000455883.2_Missense_Mutation_p.E2402G|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2436G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2506	CUB 14.					integral to membrane|plasma membrane		p.E2466G(1)|p.E2506G(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						AAATTCCTTTTCTGTCTGGAA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	104					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96051084	96051084	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:96051084G>T	ENST00000515059.1	+	9	940	c.657G>T	c.(655-657)tgG>tgT	p.W219C	BMPR1B_ENST00000264568.4_Missense_Mutation_p.W219C|BMPR1B_ENST00000394931.1_Missense_Mutation_p.W219C|BMPR1B_ENST00000440890.2_Missense_Mutation_p.W249C	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	219	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	p.W219C(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GGGAAGTTTGGATGGGAAAGT	0.453000													12	81					1.08611e-07	1.40246e-07	1	1	0
TLL2	7093	broad.mit.edu	37	10	98165037	98165037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:98165037C>A	ENST00000357947.3	-	10	1444	c.1219G>T	c.(1219-1221)Gat>Tat	p.D407Y	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	407	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D407Y(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCACGTAATCATACCAGCAC	0.458000													19	260					0.00278032	0.00296374	1	1	0
MAP1S	55201	broad.mit.edu	37	19	17837128	17837128	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:17837128G>C	ENST00000324096.4	+	5	1086	c.935G>C	c.(934-936)cGc>cCc	p.R312P	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.R286P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	312	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.R312H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTGGCGGAGCGCTCCGAGGTG	0.716000													3	26					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755313	76755313	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:76755313C>A	ENST00000536229.3	+	2	3416	c.2707C>A	c.(2707-2709)Cgg>Agg	p.R903R	SALL3_ENST00000575389.2_Silent_p.R1036R|SALL3_ENST00000537592.2_Silent_p.R1108R			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCACCGCGCCGGACGCCCAA	0.741000													3	10					0.00909568	0.00946969	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	74007528	74007528	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:74007528C>A	ENST00000358602.4	-	14	2378	c.2262G>T	c.(2260-2262)atG>atT	p.M754I	ANKRD17_ENST00000509867.2_Missense_Mutation_p.M641I|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.M754I	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	754					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.M754I(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGGAACAACCATGGGCAGTG	0.428000													12	54					1.49906e-05	1.75486e-05	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238249368	238249368	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:238249368G>T	ENST00000295550.4	-	38	8643	c.8191C>A	c.(8191-8193)Cca>Aca	p.P2731T	COL6A3_ENST00000353578.4_Missense_Mutation_p.P2525T|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2530T|COL6A3_ENST00000346358.4_Missense_Mutation_p.P2531T|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2124T|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2525T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2731	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.P2731T(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGTGGGTTTGGGGCACTTTCA	0.567000													43	151					9.9191e-30	1.97577e-29	1	1	0
ADRA1A	148	broad.mit.edu	37	8	26721659	26721659	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:26721659G>T	ENST00000380573.3	-	2	1851	c.828C>A	c.(826-828)atC>atA	p.I276I	ADRA1A_ENST00000380582.3_Silent_p.I276I|ADRA1A_ENST00000380572.3_Silent_p.I276I|ADRA1A_ENST00000380581.2_Silent_p.I276I|ADRA1A_ENST00000358857.5_Silent_p.I276I|ADRA1A_ENST00000354550.4_Silent_p.I276I|ADRA1A_ENST00000380586.1_Silent_p.I276I|ADRA1A_ENST00000519229.1_Silent_p.I276I|ADRA1A_ENST00000380587.1_Silent_p.I276I|ADRA1A_ENST00000276393.4_Silent_p.I276I			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	276					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.I276I(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGCCGACCACGATGCCCAGCG	0.572000													23	62					1.64293e-13	2.61506e-13	1	1	0
UTRN	7402	broad.mit.edu	37	6	144758883	144758883	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:144758883G>T	ENST00000367545.3	+	10	1241		c.e10+1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACAGTCCCGGTGAGTGGAAA	0.473000													8	105					4.68919e-08	6.13567e-08	1	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171958	68171958	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:68171958C>G	ENST00000243457.3	+	2	1161	c.778C>G	c.(778-780)Cgt>Ggt	p.R260G	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R260G	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	260					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.R260G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TGGAATCGATCGTATATTTCT	0.403000													9	198					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968101	99968101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:99968101G>T	ENST00000298999.3	+	5	533	c.230G>T	c.(229-231)aGa>aTa	p.R77I	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R77I|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like									p.R77I(1)									AATCCTGATAGAAAGGAGCAT	0.348000													45	138					6.31075e-24	1.1987e-23	1	1	0
HIST1H3A	8350	broad.mit.edu	37	6	26021048	26021048	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26021048T>A	ENST00000357647.3	+	1	331	c.331T>A	c.(331-333)Tgc>Agc	p.C111S		NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	111					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C111S(1)		endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CACTAACCTGTGCGCCATCCA	0.592000													16	118					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79270162	79270162	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:79270162C>T	ENST00000554719.1	+	6	1616	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	NRXN3_ENST00000335750.5_Silent_p.N375N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	153					angiogenesis|cell adhesion	integral to membrane		p.N375N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCATGGTTAACTTAGGTATCG	0.502000													23	40					0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185069342	185069342	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:185069342G>T	ENST00000367510.3	+	7	1208	c.920G>T	c.(919-921)gGc>gTc	p.G307V	RNF2_ENST00000367509.4_Missense_Mutation_p.G235V	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	307					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	p.G307V(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTATTAAATGGCTCTTTTTCT	0.318000													19	63					6.33239e-15	1.04659e-14	1	1	0
RPS6KL1	83694	broad.mit.edu	37	14	75388086	75388086	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:75388086C>A	ENST00000555647.1	-	3	446	c.159G>T	c.(157-159)gcG>gcT	p.A53A	RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000358328.4_Silent_p.A53A|RPS6KL1_ENST00000354625.2_Silent_p.A53A|RPS6KL1_ENST00000557413.1_Silent_p.A53A			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	53						ribosome	ATP binding|protein serine/threonine kinase activity	p.A53A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCTGCGTGGCCGCATCCACCA	0.597000													9	236					1.76689e-08	2.33557e-08	1	1	0
ZAN	7455	broad.mit.edu	37	7	100349995	100349995	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100349995C>A	ENST00000542585.1	+	0	2415				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P756Q(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCATCTCCCCAGAAAAACCC	0.517000													31	133					7.65355e-07	9.54653e-07	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944134	55944134	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55944134T>C	ENST00000312298.1	+	1	41	c.41T>C	c.(40-42)cTt>cCt	p.L14P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAGTTTATTCTTTTGGGATTG	0.363000													5	261					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101655070	101655070	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:101655070G>T	ENST00000409318.1	-	7	1258	c.1128C>A	c.(1126-1128)ccC>ccA	p.P376P	TBC1D8_ENST00000376840.4_Silent_p.P361P	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	361					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.P361P(1)|p.P376P(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGACAATGATGGGATGCGGCA	0.597000													59	278					3.36121e-32	6.80554e-32	1	1	0
TMEM26	219623	broad.mit.edu	37	10	63170490	63170490	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:63170490A>T	ENST00000399298.3	-	6	1065	c.697T>A	c.(697-699)Tgc>Agc	p.C233S	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	233						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GACACAGGGCACACAACGTTC	0.463000													5	76					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936818	15936818	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:15936818C>A	ENST00000504595.1	+	4	1480	c.999C>A	c.(997-999)gaC>gaA	p.D333E	FBXL7_ENST00000510662.1_Missense_Mutation_p.D286E|FBXL7_ENST00000329673.7_Missense_Mutation_p.D321E	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	333					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.D333E(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCGTCAGCGACTGCCGCTTCG	0.677000													5	58					3.59834e-05	4.14518e-05	1	1	0
UNC79	57578	broad.mit.edu	37	14	93963585	93963585	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:93963585T>A	ENST00000553484.1	+	7	1005	c.851T>A	c.(850-852)tTa>tAa	p.L284*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.L107*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.L284*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.L284*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	284						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGGCCCAATTTAAAACCTCCT	0.498000													5	119					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702135	187702135	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:187702135G>T	ENST00000295131.2	-	5	680	c.641C>A	c.(640-642)tCt>tAt	p.S214Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	214					apoptosis		zinc ion binding	p.S214Y(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGTTTGCTAGAGTTTTTGAA	0.393000													12	138					7.03913e-09	9.48332e-09	1	1	0
TRIM15	89870	broad.mit.edu	37	6	30138348	30138348	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:30138348C>T	ENST00000376694.4	+	5	1271	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	268					mesodermal cell fate determination	intracellular	zinc ion binding	p.H268Y(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCGTGATTTCCACAGGAAAAT	0.498000													32	95					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169432821	169432821	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:169432821G>A	ENST00000261509.6	+	2	377	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.E56K|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	56					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.E56K(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTCCGAAACAGAAGATTTTGA	0.488000									Pancreatic Cancer, Familial Clustering of				16	85					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137708881	137708881	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137708881G>T	ENST00000371817.3	+	53	4546	c.4132G>T	c.(4132-4134)Ggc>Tgc	p.G1378C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1378	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G1378F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGATCCCCCGGCCCTACTGG	0.517000													18	138					1.02788e-11	1.54308e-11	1	1	0
PSMD6	9861	broad.mit.edu	37	3	64004980	64004980	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:64004980C>A	ENST00000492933.1	-	4	700	c.648G>T	c.(646-648)aaG>aaT	p.K216N	PSMD6_ENST00000295901.4_Missense_Mutation_p.K163N|PSMD6_ENST00000482510.1_Missense_Mutation_p.K124N|PSMD6_ENST00000394431.2_Missense_Mutation_p.K125N	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	163	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	p.K163N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ACCTTTTGGCCTTTTCTGTGT	0.363000													11	104					1.58986e-06	1.94651e-06	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77763587	77763587	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:77763587C>G	ENST00000521891.2	+	10	4878	c.4430C>G	c.(4429-4431)tCc>tGc	p.S1477C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1432C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1451C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1432C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1432						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1477C(1)		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)			GAAACTATGTCCCAGGATGAC	0.507000										HNSCC(33;0.089)			8	65					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17197314	17197314	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:17197314G>A	ENST00000285681.2	+	12	1607	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	USP25_ENST00000285679.6_Missense_Mutation_p.R413K|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.R413K			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	413					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R413K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAATAACAAGAATTAAGAGG	0.338000													10	63					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53331002	53331002	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:53331002G>T	ENST00000566029.1	+	30	5854	c.5645G>T	c.(5644-5646)aGt>aTt	p.S1882I	CHD9_ENST00000564845.1_Missense_Mutation_p.S1882I|CHD9_ENST00000447540.1_Missense_Mutation_p.S1882I|CHD9_ENST00000398510.3_Missense_Mutation_p.S1882I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1882					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.S1882I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACTGATGATAGTTTGGAAAAA	0.383000													17	185					0.00074312	0.000805785	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55606961	55606961	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55606961C>A	ENST00000378396.1	+	1	734	c.734C>A	c.(733-735)tCc>tAc	p.S245Y		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S245Y(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACCTGTGCCTCCCACCTGACT	0.507000													16	186					1.5739e-10	2.28053e-10	1	1	0
CRYGB	1419	broad.mit.edu	37	2	209010557	209010557	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:209010557C>A	ENST00000260988.4	-	2	240	c.193G>T	c.(193-195)Gac>Tac	p.D65Y		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	65	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.D65Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		TGCTGGTAGTCAGGGTACTCC	0.597000													8	142					0.0581538	0.0592884	1	1	0
ADAM8	101	broad.mit.edu	37	10	135080912	135080912	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:135080912T>G	ENST00000445355.3	-	21	2313	c.2263A>C	c.(2263-2265)Act>Cct	p.T755P	ADAM8_ENST00000485491.2_Missense_Mutation_p.T690P|ADAM8_ENST00000415217.3_Missense_Mutation_p.H699P	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	690					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.T755P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTGGACACAGTGACCGGAGGC	0.662000													3	31					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6662548	6662548	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6662548C>A	ENST00000299441.3	-	2	708	c.297G>T	c.(295-297)ggG>ggT	p.G99G		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	99	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G99G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACGGACGACCCCACTGTGTT	0.627000													10	101					1.76689e-08	2.33557e-08	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17221697	17221697	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:17221697T>A	ENST00000261381.6	-	10	2133	c.2049A>T	c.(2047-2049)ccA>ccT	p.P683P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	683					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCACAGATGCTGGGTGGCCCA	0.527000													18	353					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274238	39274238	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652000													5	150					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614951	36614951	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:36614951G>T	ENST00000311485.3	-	2	929	c.768C>A	c.(766-768)atC>atA	p.I256I		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	256					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.I256I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGGAGACAGAGATTCCTCCTG	0.438000									Familial Hemophagocytic Lymphohistiocytosis				17	115					4.14922e-12	6.34525e-12	1	1	0
IRS1	3667	broad.mit.edu	37	2	227663167	227663167	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:227663167C>A	ENST00000305123.4	-	1	1308	c.288G>T	c.(286-288)gcG>gcT	p.A96A		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	96	Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.A96A(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGCTGTCCGCCGCGATGGCAA	0.637000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	255					2.72615e-36	5.62641e-36	1	1	0
ENOX1	55068	broad.mit.edu	37	13	43930241	43930241	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:43930241G>T	ENST00000261488.6	-	8	1214	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	ENOX1_ENST00000540032.1_Missense_Mutation_p.R26S|ENOX1_ENST00000412891.1_Missense_Mutation_p.R213S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	213	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.R213S(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ACATGAAGGCGGCCTGAATCC	0.532000													29	94					3.69857e-22	6.88158e-22	1	1	0
WNK1	65125	broad.mit.edu	37	12	994341	994341	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:994341A>C	ENST00000537687.1	+	19	5794	c.5151A>C	c.(5149-5151)tcA>tcC	p.S1717S	WNK1_ENST00000315939.6_Silent_p.S1457S|WNK1_ENST00000340908.4_Silent_p.S1050S|WNK1_ENST00000530271.2_Silent_p.S1955S|WNK1_ENST00000535572.1_Silent_p.S1210S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1457					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.S1717S(1)|p.S1457S(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGCAACTTCAGCCTCTGCAG	0.507000													31	232					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141597618	141597618	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141597618C>A	ENST00000389484.3	-	31	6122	c.5151G>T	c.(5149-5151)atG>atT	p.M1717I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1717					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.M1717I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATATTTGCCATGTTAATTG	0.333000										TSP Lung(27;0.18)			13	49					9.16793e-09	1.22639e-08	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76018597	76018597	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:76018597G>A	ENST00000393004.2	-	6	3673	c.3452C>T	c.(3451-3453)tCa>tTa	p.S1151L	FILIP1_ENST00000237172.7_Missense_Mutation_p.S1151L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S1052L			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1151										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGCTGGGATGACCCGTCTTG	0.488000													10	119					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950023	235950023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:235950023G>T	ENST00000409212.1	+	4	1117	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.E204*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.E204*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	204					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.E204*(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CTCCTTCACCGAATCCAGCTC	0.557000													49	232					1.00776e-21	1.86374e-21	1	1	0
DRP2	1821	broad.mit.edu	37	X	100503543	100503543	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:100503543G>C	ENST00000395209.3	+	14	2022	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	DRP2_ENST00000541709.1_Missense_Mutation_p.G421R|DRP2_ENST00000538510.1_Missense_Mutation_p.G499R|DRP2_ENST00000402866.1_Missense_Mutation_p.G499R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	499					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	p.G496R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTTTAAGACTGGCATTGCATG	0.448000													84	295					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134353267	134353267	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:134353267G>T	ENST00000357304.4	+	16	4598	c.4543G>T	c.(4543-4545)Gcc>Tcc	p.A1515S	PRRC2B_ENST00000458550.1_Missense_Mutation_p.A821S|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A821S|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1515							protein binding	p.A1515S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGAGAAGGAGGCCAAGTTGGC	0.567000													11	60					4.3838e-07	5.52985e-07	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90857618	90857618	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90857618A>G	ENST00000394980.1	+	7	3106	c.2787A>G	c.(2785-2787)acA>acG	p.T929T	MMRN1_ENST00000264790.2_Silent_p.T929T|MMRN1_ENST00000508372.1_Silent_p.T671T|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	929					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.T929T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGTTTTAACAATGTGTCACA	0.368000													11	88					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397271	140397271	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:140397271G>T	ENST00000286349.3	+	1	391	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	67	Cys-rich.					intracellular	zinc ion binding	p.C67F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTGGTGTTGCTGCTCTTGG	0.557000													27	169					1.55811e-20	2.84938e-20	1	1	0
KPNB1	3837	broad.mit.edu	37	17	45734225	45734225	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:45734225G>T	ENST00000290158.4	+	4	689		c.e4-1		KPNB1_ENST00000577918.1_Splice_Site|KPNB1_ENST00000535458.2_Splice_Site|KPNB1_ENST00000540627.1_Splice_Site	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1						DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TTTTGGTGCAGGTTTTGCAGA	0.408000													6	104					5.18039e-06	6.22154e-06	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47987386	47987386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:47987386G>T	ENST00000318711.7	+	38	4753	c.4570G>T	c.(4570-4572)Gag>Tag	p.E1524*	DIP2A_ENST00000417564.2_Nonsense_Mutation_p.E1523*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.E1519*|DIP2A_ENST00000479654.1_3'UTR	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1523					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.E1523*(1)|p.E1524*(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGTGGTGCTGGAGGAGCACTA	0.632000													17	75					5.01169e-05	5.73299e-05	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139889656	139889656	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:139889656G>T	ENST00000297183.6	+	22	4118	c.3994G>T	c.(3994-3996)Gca>Tca	p.A1332S	ANKHD1_ENST00000360839.2_Missense_Mutation_p.A1332S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A1332S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1									p.A1332T(2)|p.A1332S(2)|p.A543T(1)|p.A543S(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)			ACTTTGGCTGGCATCCAATGG	0.453000													26	111					1.1804e-14	1.93917e-14	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90844382	90844382	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90844382G>T	ENST00000394980.1	+	5	1233	c.914G>T	c.(913-915)gGa>gTa	p.G305V	MMRN1_ENST00000264790.2_Missense_Mutation_p.G305V|MMRN1_ENST00000508372.1_Missense_Mutation_p.G47V|MMRN1_ENST00000394981.1_Missense_Mutation_p.G271V			Q13201	MMRN1_HUMAN	multimerin 1	305					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.G305V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTTGGCAGAGGAGTAGCTGAG	0.448000													33	424					2.51541e-25	4.81891e-25	1	1	0
IQSEC3	440073	broad.mit.edu	37	12	247771	247771	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:247771C>G	ENST00000538872.1	+	4	1360	c.1242C>G	c.(1240-1242)gaC>gaG	p.D414E	IQSEC3_ENST00000382841.2_Missense_Mutation_p.D111E|IQSEC3_ENST00000326261.4_Missense_Mutation_p.D414E|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	414					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGTCCATCGACGACGCGCTCA	0.697000													7	30					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80638384	80638384	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:80638384C>T	ENST00000299564.8	-	7	1577	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	CDYL2_ENST00000562812.1_Silent_p.V475V|CDYL2_ENST00000563890.1_Silent_p.V475V|CDYL2_ENST00000566173.1_Silent_p.V475V	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	474						nucleus	catalytic activity|protein binding	p.V474V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCTTCTCGTTCACGTCTTCCA	0.522000													26	263					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139694873	139694873	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139694873G>C	ENST00000338005.6	+	5	506	c.471G>C	c.(469-471)aaG>aaC	p.K157N	KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	157								p.K157N(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACATCGAGAAGACAATGATCA	0.627000													5	37					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103271254	103271254	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:103271254C>A	ENST00000553106.1	-	4	899	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	PAH_ENST00000551988.1_5'UTR|PAH_ENST00000307000.2_Missense_Mutation_p.D138Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	143			D -> G (in PKU; haplotype 11).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.D143Y(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGTCAGCATCCAGTTCCGCT	0.517000													15	187					0.00498961	0.00524592	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111121563	111121563	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:111121563G>T	ENST00000360467.5	+	28	2401		c.e28-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.?(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGTTATTTAGGTGCCAAAGG	0.552000													3	7					6.4e-05	7.27191e-05	1	1	0
ZNF830	91603	broad.mit.edu	37	17	33289497	33289497	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:33289497G>T	ENST00000361952.3	+	1	949	c.912G>T	c.(910-912)caG>caT	p.Q304H		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	304					cell division|mitosis	cytoplasm|nucleus	metal ion binding	p.Q304Q(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TGGACCGCCAGATTGGGGAGA	0.473000													10	148					1.08611e-07	1.40246e-07	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3228223	3228223	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:3228223G>T	ENST00000217939.6	-	7	8175	c.8021C>A	c.(8020-8022)cCc>cAc	p.P2674H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2674	Ig-like C2-type 11.					extracellular region		p.P2674H(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATGCCATTGGGGAGCGTCCA	0.602000													12	97					9.05144e-12	1.36132e-11	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1263295	1263295	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:1263295C>A	ENST00000447027.1	+	31	5252	c.5194C>A	c.(5194-5196)Ccg>Acg	p.P1732T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P1729T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1729	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGAGCTCGCCCGACAGGCAC	0.667000													3	30					1	1	1	1	0
KLHL7	55975	broad.mit.edu	37	7	23180421	23180421	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:23180421C>A	ENST00000322231.7	+	6	900	c.410C>A	c.(409-411)cCt>cAt	p.P137H	KLHL7_ENST00000339077.4_Missense_Mutation_p.P159H|KLHL7_ENST00000545443.1_Missense_Mutation_p.P137H|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.P111H|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.P83H			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	159						Golgi apparatus|nucleolus|plasma membrane		p.P137H(1)|p.P159H(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAGATTGTCCTGAATTGAAA	0.323000													15	95					1.67942e-08	2.22954e-08	1	1	0
NR1H4	9971	broad.mit.edu	37	12	100897267	100897267	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:100897267C>A	ENST00000188403.7	+	1	130	c.102C>A	c.(100-102)ccC>ccA	p.P34P	NR1H4_ENST00000551379.1_Silent_p.P34P|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000392986.3_Intron	NM_001206992.1|NM_001206993.1	NP_001193921.1|NP_001193922.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	34					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GTATGAAGCCCGCGAAAGGTA	0.463000													6	37					2.7689e-08	3.65613e-08	1	1	0
CDCP2	200008	broad.mit.edu	37	1	54610303	54610303	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:54610303A>T	ENST00000371330.1	-	2	1110	c.263T>A	c.(262-264)cTg>cAg	p.L88Q	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	88	CUB 1.					extracellular region		p.L88Q(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTAGATCTCCAGAAAGTCGAA	0.612000													6	74					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85656358	85656358	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:85656358C>A	ENST00000341460.5	-	2	872	c.823G>T	c.(823-825)Ggt>Tgt	p.G275C		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	275					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.G275C(1)|p.G197C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGCTTATGACCTCTGAATTCA	0.363000													65	250					7.73544e-29	1.53088e-28	1	1	0
MOG	4340	broad.mit.edu	37	6	29633943	29633943	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29633943G>T	ENST00000376894.4	+	3	569	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	MOG_ENST00000431798.2_Missense_Mutation_p.V151L|MOG_ENST00000376888.2_Missense_Mutation_p.V35L|MOG_ENST00000376917.3_Missense_Mutation_p.V151L|MOG_ENST00000396701.2_Missense_Mutation_p.V151L|MOG_ENST00000396704.3_Missense_Mutation_p.V151L|MOG_ENST00000494692.1_Missense_Mutation_p.V151L|MOG_ENST00000490427.1_Missense_Mutation_p.V35L|MOG_ENST00000376891.4_Missense_Mutation_p.V151L|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000483013.1_Missense_Mutation_p.V35L|MOG_ENST00000376898.3_Missense_Mutation_p.V151L|MOG_ENST00000416766.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	151					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.W150_V151>CL(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						tttctactgggTGAGCCCTGG	0.547000													52	283					6.20203e-27	1.20508e-26	1	1	0
RALGPS2	55103	broad.mit.edu	37	1	178846684	178846684	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:178846684G>T	ENST00000367635.3	+	9	997	c.659G>T	c.(658-660)gGc>gTc	p.G220V	RALGPS2_ENST00000367634.2_Missense_Mutation_p.G220V|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.G185V	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	220	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.G220V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCATCAACTGGCAGCATTCTA	0.328000													24	90					1.1804e-14	1.93917e-14	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247835749	247835749	+	Missense_Mutation	SNP	C	C	A	rs147056410	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247835749C>A	ENST00000359688.2	-	1	616	c.595G>T	c.(595-597)Gct>Tct	p.A199S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A199S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTAATATCAGCAACATACACC	0.463000													11	173					0.000978159	0.00105738	1	1	0
IARS	3376	broad.mit.edu	37	9	95004448	95004448	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:95004448T>A	ENST00000375643.3	-	29	3431	c.3165A>T	c.(3163-3165)caA>caT	p.Q1055H	IARS_ENST00000375629.3_Missense_Mutation_p.Q108H|IARS_ENST00000443024.2_Missense_Mutation_p.Q1055H|IARS_ENST00000474340.1_5'UTR|IARS_ENST00000375627.1_Missense_Mutation_p.Q108H|IARS_ENST00000447699.2_Missense_Mutation_p.Q945H	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1055					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.Q1055H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GTGTTTTTTCTTGAATAAGGA	0.393000													26	142					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36027811	36027811	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36027811C>A	ENST00000222286.4	+	2	280	c.164C>A	c.(163-165)cCg>cAg	p.P55Q		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	55					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	p.P55K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	AAGCCACCACCGCCACCACTG	0.612000													37	297					1.69901e-12	2.62604e-12	1	1	0
CLYBL	171425	broad.mit.edu	37	13	100543590	100543590	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:100543590G>A	ENST00000376355.3	+	7	875	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	CLYBL_ENST00000339105.4_Missense_Mutation_p.G316R|CLYBL_ENST00000376360.1_Missense_Mutation_p.G316R|CLYBL_ENST00000376354.1_Missense_Mutation_p.G282R	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	316					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	p.G316W(1)|p.G316R(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TACTTTCCAAGGGAGTATGAT	0.423000													30	141					0	0	1	0	0
B3GALTL	145173	broad.mit.edu	37	13	31903674	31903674	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:31903674C>T	ENST00000343307.4	+	15	1515	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	456					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.H456Y(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CTACCTTTCTCATCAAGTTCC	0.463000													40	128					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031083	21031083	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:21031083C>A	ENST00000247986.2	-	5	1290	c.980G>T	c.(979-981)cGc>cTc	p.R327L	KIF17_ENST00000400463.3_Missense_Mutation_p.R327L|KIF17_ENST00000375044.1_Missense_Mutation_p.R227L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	327					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTTGGCGTAGCGCAGCGTGCT	0.607000													8	188					0.00448238	0.0047329	1	1	0
TTN	7273	broad.mit.edu	37	2	179615422	179615422	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179615422T>A	ENST00000360870.5	-	46	11927	c.11705A>T	c.(11704-11706)aAg>aTg	p.K3902M	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9723							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATCATCCTTTTTTATTCT	0.328000													16	84					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058167	19058167	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:19058167C>G	ENST00000380502.3	-	16	3065	c.2598G>C	c.(2596-2598)ttG>ttC	p.L866F	HAUS6_ENST00000380496.1_Missense_Mutation_p.L730F	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	866					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.L866F(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTAGGGCTCAATTCTGGTT	0.423000													112	220					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86007432	86007432	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:86007432G>T	ENST00000372092.3	+	2	120	c.115G>T	c.(115-117)Gct>Tct	p.A39S	RGR_ENST00000359452.4_Silent_p.V55V|RGR_ENST00000358110.5_Silent_p.V55V			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	p.V55V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						ACCTACTGGTGCTGAGCTTGG	0.607000													26	320					1.66031e-10	2.39583e-10	1	1	0
SNCA	6622	broad.mit.edu	37	4	90743477	90743477	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90743477C>A	ENST00000394989.2	-	3	446	c.184G>T	c.(184-186)Gca>Tca	p.A62S	SNCA_ENST00000394991.3_Missense_Mutation_p.A76S|SNCA_ENST00000508895.1_Missense_Mutation_p.A76S|SNCA_ENST00000345009.4_Missense_Mutation_p.A76S|SNCA_ENST00000502987.1_Missense_Mutation_p.A76S|SNCA_ENST00000394986.1_Missense_Mutation_p.A76S|SNCA_ENST00000420646.2_Missense_Mutation_p.A76S|SNCA_ENST00000336904.3_Missense_Mutation_p.A76S|SNCA_ENST00000505199.1_Missense_Mutation_p.A62S|SNCA_ENST00000506244.1_Missense_Mutation_p.A76S			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	76	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	p.A76S(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TGGGCTACTGCTGTCACACCC	0.507000													10	91					0.000442599	0.000485495	1	1	0
OR51S1	119692	broad.mit.edu	37	11	4869790	4869790	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:4869790C>A	ENST00000322101.2	-	1	724	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D217Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGGGGTCCAAACCCATG	0.532000													29	174					6.38683e-12	9.73081e-12	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147533	26147533	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:26147533A>C	ENST00000331351.5	+	2	1727	c.1335A>C	c.(1333-1335)caA>caC	p.Q445H		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	445					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGACTGGTCAAGATTTTCAGT	0.463000													3	41					0	0	1	0	0
DEFB115	245929	broad.mit.edu	37	20	29847348	29847348	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:29847348G>T	ENST00000400552.1	+	2	180	c.180G>T	c.(178-180)ggG>ggT	p.G60G		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	60					defense response to bacterium	extracellular region		p.G60G(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAAAATGTGGGGAAAAACATA	0.373000													26	93					1.16021e-09	1.61169e-09	1	1	0
ACADM	34	broad.mit.edu	37	1	76205759	76205759	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:76205759A>T	ENST00000370841.4	+	7	1000	c.563A>T	c.(562-564)cAg>cTg	p.Q188L	ACADM_ENST00000420607.2_Missense_Mutation_p.Q192L|ACADM_ENST00000370834.5_Missense_Mutation_p.Q221L|ACADM_ENST00000541113.1_Missense_Mutation_p.Q152L|ACADM_ENST00000543667.1_5'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	188					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	p.Q188L(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						ATTAATGGTCAGAAGATGTGG	0.343000													22	76					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6966160	6966160	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:6966160C>A	ENST00000389658.3	-	49	7129	c.7036G>T	c.(7036-7038)Ggt>Tgt	p.G2346C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2346	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G2346C(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGTATGAACCCAGGTAGAGA	0.438000													7	60					2.17888e-05	2.53377e-05	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248525336	248525336	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248525336T>A	ENST00000366475.1	+	1	454	c.454T>A	c.(454-456)Tat>Aat	p.Y152N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y152N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CACCATGGCCTATGACCGCTA	0.527000													127	309					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99921831	99921831	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:99921831T>C	ENST00000373004.3	+	8	1290	c.862T>C	c.(862-864)Tgt>Cgt	p.C288R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	288	Sushi 3.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.C288R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGGTGCCACCTGTGAATACCA	0.607000													24	58					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709558	128709558	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:128709558A>G	ENST00000392665.2	-	2	725	c.581T>C	c.(580-582)gTg>gCg	p.V194A	KCNJ1_ENST00000392666.1_Missense_Mutation_p.V194A|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V194A|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V194A|KCNJ1_ENST00000392664.2_Missense_Mutation_p.V213A	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	213					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	p.V213A(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	GAGATTAGCCACTCGGATTAG	0.488000													25	207					0	0	1	0	0
UQCRH	7388	broad.mit.edu	37	1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:46775912G>A	ENST00000311672.5	+	3	303	c.167G>A	c.(166-168)cGt>cAt	p.R56H		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	56					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512000													5	246					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110574132	110574132	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:110574132C>A	ENST00000356915.2	-	5	1008	c.946_splice	c.e5+1	p.A316_splice	DCX_ENST00000338081.3_Intron|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000356220.3_Splice_Site_p.A316_splice	NM_001195553.1|NM_178152.2|NM_178153.2	NP_001182482.1|NP_835365.1|NP_835366.1	O43602	DCX_HUMAN	doublecortin	392	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.A316S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GAGCACTCACCGTCTTGGTCG	0.512000													37	196					4.14481e-20	7.5349e-20	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31355409	31355409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31355409C>A	ENST00000542188.1	-	7	1241	c.928G>T	c.(928-930)Gag>Tag	p.E310*	TRPM1_ENST00000256552.6_Nonsense_Mutation_p.E293*|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E271*	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	271					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.E271*(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGGGAGGCTCTTCTTGCAGG	0.592000													49	121					1.39193e-11	2.08577e-11	1	1	0
OR6F1	343169	broad.mit.edu	37	1	247875377	247875377	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247875377C>A	ENST00000302084.2	-	1	728	c.681G>T	c.(679-681)agG>agT	p.R227S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R227S(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGAGGGGATCCTGAGGATGG	0.527000													37	336					1.59932e-28	3.15244e-28	1	1	0
TENM4	26011	broad.mit.edu	37	11	78413441	78413441	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:78413441A>T	ENST00000278550.7	-	28	4679	c.4217T>A	c.(4216-4218)cTg>cAg	p.L1406Q		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.L1406Q(2)									GGGCCACTCCAGGTGAACCTG	0.493000													39	259					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17447954	17447954	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:17447954T>A	ENST00000253692.7	-	5	1896	c.232A>T	c.(232-234)Aat>Tat	p.N78Y	TBC1D5_ENST00000429383.4_Missense_Mutation_p.N78Y|TBC1D5_ENST00000429924.2_Missense_Mutation_p.N30Y|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N78Y	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	78						intracellular	protein binding|Rab GTPase activator activity	p.N78Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCTGCCCATTAATCCCCTTC	0.373000													33	193					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627195	140627195	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140627195C>A	ENST00000231173.3	+	1	2049	c.2049C>A	c.(2047-2049)gcC>gcA	p.A683A		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		683					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A683A(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCCCAGGCCGACTCGCTTA	0.672000													55	284					8.44121e-28	1.65588e-27	1	1	0
CLEC1A	51267	broad.mit.edu	37	12	10226012	10226012	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:10226012T>A	ENST00000315330.4	-	5	606		c.e5-2		CLEC1A_ENST00000457018.2_Splice_Site|CLEC1A_ENST00000420265.2_Splice_Site	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGCAAATTCCTGTGAAAAGCA	0.483000													24	145					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67705957	67705957	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:67705957C>A	ENST00000347310.5	+	9	1312	c.1141C>A	c.(1141-1143)Cga>Aga	p.R381R	IL23R_ENST00000395227.1_Silent_p.R126R|IL23R_ENST00000473881.1_Intron|IL23R_ENST00000371002.1_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	381			R -> Q (associated with IBD17; has a protective effect against Crohn disease and psoriasis; dbSNP:rs11209026).		inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.R381R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAGATCATTCCGAACTGGGTA	0.323000													4	64					0.00024832	0.000275587	1	1	0
PLA2G3	50487	broad.mit.edu	37	22	31533822	31533822	+	Missense_Mutation	SNP	G	G	C	rs149172730		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:31533822G>C	ENST00000215885.3	-	4	1192	c.940C>G	c.(940-942)Cat>Gat	p.H314D		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	314					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.H314D(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCTTTCTGATGTGGTGGCCCC	0.667000													44	293					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800875	185800875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:185800875G>T	ENST00000302277.6	+	4	1346	c.752G>T	c.(751-753)aGa>aTa	p.R251I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	251						intracellular	zinc ion binding	p.R251I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAAAAGTAGATTTGTCCCC	0.438000													44	180					2.81731e-22	5.24985e-22	1	1	0
GPX8	493869	broad.mit.edu	37	5	54456931	54456931	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:54456931C>A	ENST00000503787.1	+	2	389	c.314C>A	c.(313-315)gCt>gAt	p.A105D	GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.A54D|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000296734.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	105					response to oxidative stress	integral to membrane	glutathione peroxidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	AGCGTGTTGGCTTTTCCCTGC	0.478000													6	96					0.217242	0.218667	1	1	0
RYR2	6262	broad.mit.edu	37	1	237906912	237906912	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237906912C>A	ENST00000360064.6	+	82	11152	c.11152C>A	c.(11152-11154)Caa>Aaa	p.Q3718K	RYR2_ENST00000542537.1_Intron|RYR2_ENST00000366574.2_Intron			Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3715					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)			CACAGGATCCCAACGCAGCAA	0.398000													8	67					0.000442599	0.000485495	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42837203	42837203	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:42837203G>T	ENST00000200557.6	+	2	344	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	59					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G59W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGAGAGCTCCGGGGGAGAGGT	0.692000													27	60					3.01185e-09	4.11636e-09	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141283457	141283457	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141283457C>A	ENST00000389484.3	-	49	8953	c.7982G>T	c.(7981-7983)gGg>gTg	p.G2661V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2661	LDL-receptor class A 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2661V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCATTAGACCCGTCGCATAT	0.418000										TSP Lung(27;0.18)			9	121					0.000274275	0.000302072	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93844214	93844214	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:93844214C>A	ENST00000315765.9	+	18	3199	c.3191C>A	c.(3190-3192)aCg>aAg	p.T1064K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1064	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACAACCTACACGGTCCTTCGT	0.507000													9	15					1.12685e-05	1.33376e-05	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121344966	121344966	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:121344966G>A	ENST00000297848.3	+	42	5047	c.4777G>A	c.(4777-4779)Gga>Aga	p.G1593R	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1498R|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1593R	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1593	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGGCGCCCTGGGACCACCTGT	0.502000													5	41					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145439809	145439809	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145439809G>T	ENST00000369317.4	+	3	689	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	119					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.G119W(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAAAATATGGGTGTGTAGA	0.433000													14	283					4.7546e-09	6.46226e-09	1	1	0
BOC	91653	broad.mit.edu	37	3	112989746	112989746	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:112989746C>A	ENST00000495514.1	+	6	1326	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	BOC_ENST00000355385.3_Missense_Mutation_p.Q208K|BOC_ENST00000273395.4_Missense_Mutation_p.Q208K			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	208	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.Q208K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCCAGTGACCCAGGAAGTGAA	0.602000													38	334					5.48756e-27	1.06964e-26	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140235754	140235754	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140235754G>T	ENST00000307360.5	+	1	121	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.G41C|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.G41C(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGACACGGCACCTTCGT	0.672000													44	159					5.73435e-26	1.10633e-25	1	1	0
MED23	9439	broad.mit.edu	37	6	131917827	131917827	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:131917827G>C	ENST00000403834.3	-	21	2800	c.2625_splice	c.e21-1	p.A876_splice	MED23_ENST00000354577.4_Splice_Site_p.A876_splice|MED23_ENST00000368058.1_Splice_Site_p.A876_splice|MED23_ENST00000368060.3_Splice_Site_p.A870_splice|MED23_ENST00000368068.3_Splice_Site_p.A870_splice|MED23_ENST00000545957.1_Splice_Site_p.A511_splice			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	870					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.A870G(1)|p.A876G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACTACGCATGGCCTTTGAAAA	0.343000													13	60					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75843579	75843579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:75843579C>A	ENST00000322507.8	-	33	5968	c.5659G>T	c.(5659-5661)Gaa>Taa	p.E1887*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.E1887*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.E723*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.E1887*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1887	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATTACCAGTTCCTCTGGACCA	0.433000													5	89					0.014758	0.0152742	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508094	37508094	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:37508094C>A	ENST00000374660.1	+	40	3742	c.3643C>A	c.(3643-3645)Ctg>Atg	p.L1215M	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.L1096M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L1096M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L1096M(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACCCTAAAACTGAAAGAGGA	0.348000													47	338					7.90463e-13	1.23419e-12	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55626410	55626410	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:55626410C>A	ENST00000373965.2	-	28	4124	c.3730G>T	c.(3730-3732)Gat>Tat	p.D1244Y	PCDH15_ENST00000437009.1_Missense_Mutation_p.D1166Y|PCDH15_ENST00000409834.1_Missense_Mutation_p.D848Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1215Y|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1200Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1242Y|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1237Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1237Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1237Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1244Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1237Y	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1237	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1237Y(2)|p.D1242Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACGAGTACATCGGCTTTGCCG	0.383000										HNSCC(58;0.16)			17	78					1.33834e-09	1.85285e-09	1	1	0
HSF5	124535	broad.mit.edu	37	17	56565544	56565544	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:56565544C>A	ENST00000323777.3	-	1	201	c.92G>T	c.(91-93)cGc>cTc	p.R31L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	31						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCGTCCCAGCGGATGGAGCG	0.736000													3	46					1.23904e-05	1.45532e-05	1	1	0
REG1P	5969	broad.mit.edu	37	2	79363232	79363232	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:79363232G>T	ENST00000444841.1	-	0	1106																											AACAGGGGCAGACGTGACTCA	0.483000													12	51					6.40141e-05	7.27191e-05	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65688242	65688242	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65688242C>A	ENST00000352385.2	-	7	1466	c.1257G>T	c.(1255-1257)tcG>tcT	p.S419S		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	419	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CCACGGCCAGCGACGCGGCAG	0.716000													4	33					0.014758	0.0152742	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219893021	219893021	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:219893021G>T	ENST00000341552.5	-	12	1836	c.1753C>A	c.(1753-1755)Cgg>Agg	p.R585R	CCDC108_ENST00000410037.1_Silent_p.R520R|CCDC108_ENST00000453220.1_Silent_p.R585R|CCDC108_ENST00000441968.1_Silent_p.R585R|CCDC108_ENST00000409865.3_Silent_p.R574R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	585						integral to membrane	structural molecule activity	p.R585R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCAGGCCCCGGGCCAGGTGT	0.622000													30	135					1.08312e-15	1.81704e-15	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10465408	10465408	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:10465408G>T	ENST00000382483.3	-	4	6423	c.6200C>A	c.(6199-6201)gCt>gAt	p.A2067D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2067					intracellular signal transduction			p.A2067D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCCCTTCAGCCTCCTGTGC	0.627000													142	296					3.20412e-72	6.81327e-72	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20559428	20559428	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20559428G>T	ENST00000329697.6	-	8	1222	c.1054C>A	c.(1054-1056)Cag>Aag	p.Q352K	ACSM2B_ENST00000565232.1_Missense_Mutation_p.Q352K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.Q273K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.Q352K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	352					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.Q352K(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTCCTGTCTGGGCCCTCCAG	0.502000													161	379					1.12603e-65	2.39026e-65	1	1	0
MVP	9961	broad.mit.edu	37	16	29842281	29842281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29842281C>T	ENST00000357402.5	+	3	346	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Nonsense_Mutation_p.Q70*	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	70					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						TCGGGATGCCCAGGGCTTGGT	0.627000													5	101					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626465	49626465	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:49626465C>A	ENST00000371571.4	-	2	696	c.411G>T	c.(409-411)cgG>cgT	p.R137R	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.R137R	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	137						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCGCAGCAGCCGCAGCTTGC	0.657000													14	122					7.93312e-07	9.82539e-07	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62168014	62168014	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:62168014C>A	ENST00000261517.5	-	76	10328	c.10255G>T	c.(10255-10257)Ggg>Tgg	p.G3419W	VPS13C_ENST00000395898.3_Missense_Mutation_p.G3376W|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3376W|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3419W	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3419					protein localization			p.G3419W(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACATCTAACCCCAATACAAGG	0.313000													6	85					0.000157383	0.000176097	1	1	0
SLC16A6	9120	broad.mit.edu	37	17	66267479	66267479	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:66267479G>T	ENST00000327268.4	-	6	986	c.822C>A	c.(820-822)ccC>ccA	p.P274P	SLC16A6_ENST00000580666.1_Silent_p.P274P|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	274						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.P274P(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CGCTTGGCCTGGGGCTGGTCT	0.458000													8	143					0.000157383	0.000176097	1	1	0
MAP10	54627	broad.mit.edu	37	1	232943628	232943628	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:232943628G>C	ENST00000418460.1	+	1	2986	c.2859G>C	c.(2857-2859)caG>caC	p.Q953H		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AAGAAAACCAGATAGATCAAA	0.328000													9	119					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100458876	100458876	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:100458876T>A	ENST00000514652.1	+	6	951	c.597T>A	c.(595-597)gtT>gtA	p.V199V	C4orf17_ENST00000326581.4_Silent_p.V199V			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	199								p.V199V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TGGCAGAAGTTTTACAGTGGC	0.363000													9	87					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43680093	43680093	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:43680093C>A	ENST00000404580.1	-	3	726	c.638G>T	c.(637-639)gGa>gTa	p.G213V	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.G213V|PSG5_ENST00000599812.1_Missense_Mutation_p.G306V|PSG5_ENST00000366175.3_Missense_Mutation_p.G213V|PSG5_ENST00000342951.6_Missense_Mutation_p.G213V			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	213	Ig-like C2-type 1.				female pregnancy	extracellular region		p.G213V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTCATAGGGTCCTGTTTCATT	0.517000													115	298					1.88352e-63	3.98787e-63	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173997440	173997440	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:173997440G>C	ENST00000457714.1	+	6	2078	c.1649_splice	c.e6+1	p.G550_splice	NLGN1_ENST00000545397.1_Splice_Site_p.G550_splice|NLGN1_ENST00000401917.3_Splice_Site_p.G590_splice|NLGN1_ENST00000361589.4_Splice_Site_p.G550_splice	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	567					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.G550A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCTAAAACTGGGTATGTACCT	0.294000													16	120					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109352661	109352661	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:109352661G>T	ENST00000283195.6	+	6	864	c.738G>T	c.(736-738)acG>acT	p.T246T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	246					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.T246T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCTTCTTACGCTTTCCACTA	0.388000													83	347					2.5963e-48	5.46403e-48	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138669205	138669205	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:138669205G>A	ENST00000298480.5	+	21	2445	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	KCNT1_ENST00000491806.2_Missense_Mutation_p.E758K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E770K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E746K|KCNT1_ENST00000486577.2_Missense_Mutation_p.E750K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E772K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E791K|KCNT1_ENST00000263604.3_Missense_Mutation_p.E772K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	791						membrane	binding|calcium-activated potassium channel activity	p.E791K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAACAGCTATGAAGACGCCAA	0.612000													20	178					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103317410	103317410	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:103317410T>C	ENST00000520539.1	-	21	3336	c.2730A>G	c.(2728-2730)acA>acG	p.T910T	UBR5_ENST00000220959.4_Silent_p.T910T|UBR5_ENST00000521922.1_Silent_p.T904T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	910					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	p.T910T(1)		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)			GGCTGATGAATGTCTGCAGCA	0.413000													285	267					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777761	152777761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152777761C>A	ENST00000368768.1	-	2	244	c.194G>T	c.(193-195)gGg>gTg	p.G65V	LCE1C_ENST00000607093.1_Missense_Mutation_p.G65V	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	65	Gly-rich.				keratinization			p.G65V(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCATCCCCCAGAGCTGGA	0.662000													67	165					6.09464e-36	1.25469e-35	1	1	0
HHIP	64399	broad.mit.edu	37	4	145627701	145627701	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:145627701C>T	ENST00000296575.3	+	5	1505	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	284						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGAAAGAGGACTGCTAAGCCT	0.413000													8	36					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37817240	37817240	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:37817240C>T	ENST00000336308.5	+	13	1259	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	STARD3_ENST00000544210.2_Silent_p.F347F|STARD3_ENST00000580611.1_Silent_p.F321F|STARD3_ENST00000394250.4_Silent_p.F329F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	347	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	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;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCAGGGACTTCGTGAATGTCC	0.602000													5	218					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431802	26431802	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26431802G>T	ENST00000466808.2	+	0	1750																		p.R573_E574>S*(1)									CAGGCATAGGGAACTAGTTGT	0.478000													30	196					8.16721e-17	1.40369e-16	1	1	0
NRXN3	9369	broad.mit.edu	37	14	80328243	80328243	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:80328243A>T	ENST00000281127.7	+	6	2114	c.1235A>T	c.(1234-1236)aAg>aTg	p.K412M	NRXN3_ENST00000335750.5_Missense_Mutation_p.K1041M|NRXN3_ENST00000428277.2_Missense_Mutation_p.K439M|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.K617M|NRXN3_ENST00000554719.1_Missense_Mutation_p.K1041M	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	617					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATGAAGGAGAAGCAGCAGAGC	0.522000													4	62					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9337872	9337872	+	Silent	SNP	C	C	A	rs111523371	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:9337872C>A	ENST00000382496.5	-	4	842	c.177G>T	c.(175-177)tcG>tcT	p.S59S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	59	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.S59S(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGTTAACTGCGAGAAATCCA	0.338000													9	87					4.68919e-08	6.13567e-08	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7413034	7413034	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:7413034C>A	ENST00000399429.3	-	32	2643	c.2503G>T	c.(2503-2505)Gcc>Tcc	p.A835S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	835	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.A835S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTATGCGGGCCGTGGCAAGG	0.478000													52	162					9.22156e-22	1.70929e-21	1	1	0
NUP210L	91181	broad.mit.edu	37	1	154099789	154099789	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:154099789C>T	ENST00000368559.3	-	9	1254	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	NUP210L_ENST00000271854.3_Missense_Mutation_p.D395N	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	395						integral to membrane		p.D395N(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGACTCACATCTGAAATATAG	0.408000													6	95					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353888	101353888	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:101353888C>A	ENST00000344327.3	-	5	1726	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	TRPC6_ENST00000360497.4_Missense_Mutation_p.K379N|TRPC6_ENST00000348423.4_Missense_Mutation_p.K318N|TRPC6_ENST00000532133.1_Missense_Mutation_p.K434N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	434					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.K434N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CACGCATTATCTTCCCCATCT	0.408000													8	72					7.48243e-07	9.33783e-07	1	1	0
MSGN1	343930	broad.mit.edu	37	2	17998056	17998056	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:17998056G>T	ENST00000281047.3	+	1	294	c.271G>T	c.(271-273)Gta>Tta	p.V91L		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	91					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.V91L(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAGTGGCCTGGTAGAGGTGGA	0.637000													22	102					7.41877e-09	9.95747e-09	1	1	0
VGF	7425	broad.mit.edu	37	7	100807818	100807818	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100807818G>T	ENST00000249330.2	-	2	546	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	VGF_ENST00000445482.2_Missense_Mutation_p.Q103K	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	103					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCCCTGCTGGGAGCCGCTT	0.736000													5	22					0.014758	0.0152742	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6961756	6961756	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:6961756G>T	ENST00000389658.3	-	53	7548	c.7455C>A	c.(7453-7455)ccC>ccA	p.P2485P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2485					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P2485P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCCGGATGGGCTGGACAC	0.507000													9	59					0.000274275	0.000302072	1	1	0
TRIM32	22954	broad.mit.edu	37	9	119460463	119460463	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:119460463G>T	ENST00000450136.1	+	2	603	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.D148Y|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	148					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.D148Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGGCGTCGGGACTTTGGAGA	0.587000													21	157					4.26978e-12	6.51745e-12	1	1	0
SOX6	55553	broad.mit.edu	37	11	16340125	16340125	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:16340125T>G	ENST00000352083.6	-	3	389	c.312A>C	c.(310-312)gaA>gaC	p.E104D	SOX6_ENST00000396356.3_Missense_Mutation_p.E104D|SOX6_ENST00000527619.1_Missense_Mutation_p.E107D|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528252.1_Missense_Mutation_p.E104D|SOX6_ENST00000528429.1_Missense_Mutation_p.E104D|SOX6_ENST00000316399.6_Missense_Mutation_p.E104D			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	104					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.E107D(1)|p.E104D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCCGACTCCCTTCGTCAGGCT	0.433000													34	227					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80771646	80771646	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:80771646G>T	ENST00000458043.2	+	58	6859	c.6853G>T	c.(6853-6855)Gac>Tac	p.D2285Y	OTOGL_ENST00000547103.1_Missense_Mutation_p.D2273Y|OTOGL_ENST00000546620.1_Missense_Mutation_p.D304Y	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCATCTTGTGACGGCAAATG	0.333000													5	38					0.217242	0.218667	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113208289	113208289	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:113208289C>A	ENST00000401783.2	-	26	4627	c.4291G>T	c.(4291-4293)Gaa>Taa	p.E1431*	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E1408*|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E1431*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1431	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.E1431*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCAGAAACTTCAAAATCCAGG	0.433000													4	39					2.56e-06	3.11255e-06	1	1	0
MAGEB6	158809	broad.mit.edu	37	X	26213127	26213127	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:26213127A>T	ENST00000379034.1	+	2	1313	c.1164A>T	c.(1162-1164)ccA>ccT	p.P388P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	388	MAGE.							p.P388P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTTTATACCCACATCTGTATG	0.507000													65	102					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35226986	35226986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:35226986G>T	ENST00000339480.1	+	2	501	c.131G>T	c.(130-132)tGg>tTg	p.W44L		NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	44					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GAGGAGGTGTGGGACGATGAG	0.592000													6	82					1	1	1	1	0
ZMYM2	7750	broad.mit.edu	37	13	20605470	20605470	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:20605470G>T	ENST00000382869.3	+	10	2114	c.1863G>T	c.(1861-1863)atG>atT	p.M621I	ZMYM2_ENST00000382874.2_Missense_Mutation_p.M621I|ZMYM2_ENST00000382883.3_Missense_Mutation_p.M103I|ZMYM2_ENST00000382870.2_Start_Codon_SNP_p.M1I|ZMYM2_ENST00000382871.2_Missense_Mutation_p.M621I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCTAAGTATGCAGTCATCTC	0.353000													9	47					0.00829132	0.00865426	1	1	0
LRRN3	54674	broad.mit.edu	37	7	110764016	110764016	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:110764016C>G	ENST00000451085.1	+	4	2234	c.1188C>G	c.(1186-1188)tgC>tgG	p.C396W	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.C396W|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.C396W|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	396	LRRCT.					integral to membrane		p.C396W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CACTGTTTTGCGTGGACCCAC	0.458000													16	103					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29775094	29775094	+	Missense_Mutation	SNP	G	G	A	rs149082592	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:29775094G>A	ENST00000375398.2	-	28	5148	c.4699C>T	c.(4699-4701)Cgt>Tgt	p.R1567C	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.R359C|SVIL_ENST00000375400.3_Missense_Mutation_p.R1141C|SVIL_ENST00000535393.1_Missense_Mutation_p.R481C|SVIL_ENST00000355867.4_Missense_Mutation_p.R1567C			O95425	SVIL_HUMAN	supervillin	1567	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.R1567C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCATGAGACGGTAAATGCAG	0.468000													22	132					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930212	45930212	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:45930212C>A	ENST00000275525.3	+	2	711	c.415C>A	c.(415-417)Cat>Aat	p.H139N	IGFBP1_ENST00000468955.1_Missense_Mutation_p.H139N|IGFBP1_ENST00000457280.1_Missense_Mutation_p.H139N	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	139						extracellular space	insulin-like growth factor binding	p.F138_H139>LN(1)		large_intestine(2)|lung(4)	6						GGATAATTTCCATCTGATGGC	0.517000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	205					4.36969e-10	6.17489e-10	1	1	0
HDLBP	3069	broad.mit.edu	37	2	242195624	242195624	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:242195624C>A	ENST00000391975.1	-	7	1075	c.848G>T	c.(847-849)cGc>cTc	p.R283L	HDLBP_ENST00000391976.2_Missense_Mutation_p.R283L|HDLBP_ENST00000310931.4_Missense_Mutation_p.R283L|HDLBP_ENST00000427183.2_Missense_Mutation_p.R319L	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	283	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.R283L(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTTCTTGATGCGAGCCACAGC	0.512000													11	84					6.40141e-05	7.27191e-05	1	1	0
BAI3	577	broad.mit.edu	37	6	70092791	70092791	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:70092791G>T	ENST00000370598.1	+	31	5165	c.4344G>T	c.(4342-4344)ttG>ttT	p.L1448F	BAI3_ENST00000238918.8_Missense_Mutation_p.L654F|BAI3_ENST00000546190.1_Missense_Mutation_p.L412F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1448					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCAAACTTTGGACAGATTTC	0.378000													3	56					0.004672	0.00491621	1	1	0
CLSTN3	9746	broad.mit.edu	37	12	7290632	7290632	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:7290632G>A	ENST00000537408.1	+	7	1866	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	CLSTN3_ENST00000266546.6_Missense_Mutation_p.R431H			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	431					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.R431H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GAGAGTGCCCGCCCAGTCAAG	0.582000													5	125					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269434	123269434	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:123269434G>A	ENST00000451558.1	+	12	1907	c.1386G>A	c.(1384-1386)gaG>gaA	p.E462E	ASB15_ENST00000434204.1_Silent_p.E462E|ASB15_ENST00000275699.3_Silent_p.E462E|ASB15_ENST00000451215.1_Silent_p.E462E|ASB15_ENST00000540573.1_Silent_p.E462E			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	462					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGTGGTCAGAGATACAGGAAG	0.403000													5	254					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45402211	45402211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:45402211G>T	ENST00000398063.2	+	9	1561	c.1069G>T	c.(1069-1071)Gga>Tga	p.G357*	AGPAT3_ENST00000546158.1_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000327505.2_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000398061.1_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000291572.8_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000398058.1_Nonsense_Mutation_p.G357*|AGPAT3_ENST00000479117.1_3'UTR	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	357					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.G357*(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CAGACTGATAGGAGTAACTGA	0.458000													49	343					5.22555e-25	9.9953e-25	1	1	0
SEC14L3	266629	broad.mit.edu	37	22	30857304	30857304	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:30857304G>A	ENST00000403066.1	-	12	1180	c.897C>T	c.(895-897)gcC>gcT	p.A299A	SEC14L3_ENST00000402286.1_Silent_p.A281A|SEC14L3_ENST00000539629.1_Silent_p.A299A|SEC14L3_ENST00000401751.1_Silent_p.A299A|SEC14L3_ENST00000215812.4_Silent_p.A358A|SEC14L3_ENST00000540910.1_Silent_p.A281A|SEC14L3_ENST00000415957.2_Silent_p.A299A			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	358	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity	p.A358A(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TACAGACGCCGGCCTCTGAGC	0.607000													36	216					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8824925	8824925	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:8824925G>T	ENST00000359865.3	+	15	3559	c.3417G>T	c.(3415-3417)ggG>ggT	p.G1139G	SOGA2_ENST00000400050.3_Silent_p.G1098G|SOGA2_ENST00000306285.7_Silent_p.G464G|SOGA2_ENST00000306329.11_Silent_p.G1458G|SOGA2_ENST00000517570.1_Silent_p.G1098G|SOGA2_ENST00000518815.1_Silent_p.G464G	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1449								p.G1139G(1)									CCGAGGTGGGGCGGGCAGGGC	0.617000													38	167					3.93418e-24	7.48439e-24	1	1	0
FOLH1B	219595	broad.mit.edu	37	11	89424067	89424067	+	RNA	SNP	C	C	A	rs145208476		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:89424067C>A	ENST00000532352.1	+	0	1530							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.S239R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ACAAATTCAGCGGCTATCCAC	0.333000													19	88					7.38237e-10	1.03429e-09	1	1	0
TMEM246	84302	broad.mit.edu	37	9	104238432	104238432	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:104238432C>A	ENST00000374851.1	-	4	2090	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Nonsense_Mutation_p.E315*|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Nonsense_Mutation_p.E315*			Q9BRR3	CI125_HUMAN	transmembrane protein 246	315						integral to membrane		p.E315*(1)									CGCCGCAGTTCCAGGAAATAG	0.617000													24	224					9.86323e-18	1.72906e-17	1	1	0
SYT6	148281	broad.mit.edu	37	1	114680353	114680353	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:114680353A>C	ENST00000393296.1	-	3	912	c.835T>G	c.(835-837)Tgc>Ggc	p.C279G	SYT6_ENST00000369547.1_Missense_Mutation_p.C194G			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	279	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.C194G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAGCTTGCATTTGCGGTCA	0.552000													21	142					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387659	52387659	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:52387659C>T	ENST00000356297.4	-	7	667	c.567G>A	c.(565-567)atG>atA	p.M189I	PXDNL_ENST00000543296.1_Missense_Mutation_p.M189I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	189	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCCCAGCCACATCAGATCAC	0.517000													14	96					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142273824	142273824	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:142273824G>C	ENST00000378004.3	+	6	863	c.508G>C	c.(508-510)Gtc>Ctc	p.V170L	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.V170L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	170					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.V170L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGGACCTGGTCCGGCAGCA	0.423000													4	48					0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15376214	15376214	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:15376214G>T	ENST00000297904.3	-	3	832	c.403C>A	c.(403-405)Cct>Act	p.P135T		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	135					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	p.P135S(1)|p.P135T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTCACACAAGGGGGCTTGAAG	0.488000													67	189					2.0493e-37	4.25091e-37	1	1	0
SALL3	27164	broad.mit.edu	37	18	76757283	76757283	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:76757283G>T	ENST00000536229.3	+	3	3958	c.3249G>T	c.(3247-3249)acG>acT	p.T1083T	SALL3_ENST00000575389.2_Silent_p.T1216T|SALL3_ENST00000537592.2_Silent_p.T1288T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T1288T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCATTCACGCGGTTTATCG	0.567000													35	459					5.20837e-25	9.97019e-25	1	1	0
IL21R	50615	broad.mit.edu	37	16	27460382	27460382	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:27460382G>T	ENST00000337929.3	+	9	1868	c.1395G>T	c.(1393-1395)tgG>tgT	p.W465C	IL21R_ENST00000395755.1_Missense_Mutation_p.W465C|IL21R_ENST00000564089.1_Missense_Mutation_p.W465C|IL21R_ENST00000395754.4_Missense_Mutation_p.W465C|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	465					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.W465C(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GACTGCCCTGGGGTGGCCGGT	0.662000			T	BCL6	NHL								39	80					3.54561e-26	6.8513e-26	1	1	0
ARSE	415	broad.mit.edu	37	X	2871199	2871199	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:2871199C>A	ENST00000545496.1	-	6	781	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	ARSE_ENST00000540563.1_Missense_Mutation_p.A94S|ARSE_ENST00000381134.3_Missense_Mutation_p.A139S			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	139					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGTCCAGTGGCATAGCCTTTC	0.418000													12	78					4.36969e-10	6.17489e-10	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53111967	53111967	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:53111967G>T	ENST00000375442.4	+	1	419	c.287G>T	c.(286-288)gGc>gTc	p.G96V		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	96					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	p.G96V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAGTGTCCCGGCTGGGATTCT	0.701000													4	13					0.0215528	0.0221851	1	1	0
ANK2	287	broad.mit.edu	37	4	114278434	114278434	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:114278434C>T	ENST00000357077.4	+	38	8713	c.8660C>T	c.(8659-8661)cCa>cTa	p.P2887L	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2854L|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2854					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P2887L(1)		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)		GAGAACTTACCAAAGGACTGC	0.378000													33	223					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970965	57970965	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57970965G>T	ENST00000302592.6	-	1	688	c.689C>A	c.(688-690)tCc>tAc	p.S230Y		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GCAGACATAGGAGAAGAAGAT	0.438000													14	102					7.45023e-12	1.1274e-11	1	1	0
B3GNT3	10331	broad.mit.edu	37	19	17922691	17922691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:17922691C>A	ENST00000318683.6	+	3	1026	c.879C>A	c.(877-879)ttC>ttA	p.F293L	B3GNT3_ENST00000595387.1_Missense_Mutation_p.F293L	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	293					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGGACATCTTCCCCATTGATG	0.622000													17	333					8.28177e-16	1.39315e-15	1	1	0
KDM4D	55693	broad.mit.edu	37	11	94731346	94731346	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:94731346G>T	ENST00000335080.5	+	3	1642	c.810G>T	c.(808-810)gaG>gaT	p.E270D	KDM4D_ENST00000536741.1_Missense_Mutation_p.E270D	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	270	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E270D(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGCTGGAGAGTTCATGGTGA	0.522000													11	162					0.000978159	0.00105738	1	1	0
LOC101927958	101927958	broad.mit.edu	37	2	239141363	239141363	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:239141363G>T	ENST00000456601.1	+	0	906																											CAGAGCAGTTGGTGTACGATG	0.542000													7	37					2.0095e-06	2.45295e-06	1	1	0
DRGX	644168	broad.mit.edu	37	10	50594759	50594759	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50594759C>A	ENST00000374139.2	-	4	390	c.380G>T	c.(379-381)cGg>cTg	p.R127L	DRGX_ENST00000434016.1_Missense_Mutation_p.R132L			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	132					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTTCTTACTCCGGGCTTGGTC	0.662000													6	90					5.9392e-07	7.4574e-07	1	1	0
DDX26B	203522	broad.mit.edu	37	X	134703357	134703357	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:134703357G>T	ENST00000370752.4	+	10	1621		c.e10+1		DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B									p.V430L(1)|p.?(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTATTAGTATGTATTTG	0.333000													191	40					1.05379e-99	2.25641e-99	1	1	0
ZNF460	10794	broad.mit.edu	37	19	57802137	57802137	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:57802137C>T	ENST00000360338.3	+	3	550	c.228C>T	c.(226-228)ctC>ctT	p.L76L	ZNF460_ENST00000537645.1_Silent_p.L35L	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L76L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGTCTCACTCCAGGAACAGC	0.498000													27	90					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159566095	159566095	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:159566095C>A	ENST00000307765.5	+	15	1401	c.1150C>A	c.(1150-1152)Cca>Aca	p.P384T	RXFP1_ENST00000448688.2_Missense_Mutation_p.P279T|RXFP1_ENST00000460056.2_Missense_Mutation_p.P303T|RXFP1_ENST00000343542.5_Missense_Mutation_p.P336T|RXFP1_ENST00000470033.1_Missense_Mutation_p.P351T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	384						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.P384T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGGGTATGCACCACATGTTCG	0.358000													8	53					0.0381472	0.0389886	1	1	0
CALCR	799	broad.mit.edu	37	7	93067561	93067561	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:93067561G>T	ENST00000359558.2	-	12	1225	c.926C>A	c.(925-927)aCt>aAt	p.T309N	CALCR_ENST00000426151.1_Missense_Mutation_p.T275N|CALCR_ENST00000421592.1_Missense_Mutation_p.T291N|CALCR_ENST00000394441.1_Missense_Mutation_p.T275N|CALCR_ENST00000360249.4_Missense_Mutation_p.T291N	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	291					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.T275N(1)|p.T309N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGCATGGATAGTGGTTGGCAC	0.373000													10	88					6.40141e-05	7.27191e-05	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347671	140347671	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140347671A>T	ENST00000289269.5	+	1	1852	c.1320A>T	c.(1318-1320)acA>acT	p.T440T	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		440	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T440T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACGGTGACAGCCACAGATG	0.547000													44	185					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56729334	56729334	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:56729334G>T	ENST00000389934.3	-	2	146	c.29C>A	c.(28-30)cCc>cAc	p.P10H	TEX14_ENST00000349033.5_Missense_Mutation_p.P10H|TEX14_ENST00000240361.8_Missense_Mutation_p.P10H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	10						cytoplasm	ATP binding|protein kinase activity	p.P10H(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAGGACAGGGGACTGGAAG	0.398000													41	51					1.57019e-19	2.82727e-19	1	1	0
CHD5	26038	broad.mit.edu	37	1	6196657	6196657	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:6196657C>G	ENST00000262450.3	-	17	2715	c.2616G>C	c.(2614-2616)ctG>ctC	p.L872L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	872	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L872L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGTCAGCAGCAGCTTGTAAT	0.572000													26	145					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851501	61851501	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:61851501C>G	ENST00000577390.1	-	7	2113	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	CDH8_ENST00000584337.1_Missense_Mutation_p.E387Q|CDH8_ENST00000577730.1_Missense_Mutation_p.E387Q|CDH8_ENST00000299345.6_Missense_Mutation_p.E387Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	387	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E387Q(2)|p.E387*(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACCGGAGGCTCATCAGCATCT	0.498000													15	112					0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49491726	49491726	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49491726C>A	ENST00000267102.8	-	16	1745		c.e16+1		LMBR1L_ENST00000547382.1_Splice_Site|LMBR1L_ENST00000395141.4_Splice_Site	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like						endocytosis	integral to membrane|plasma membrane	receptor activity	p.?(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCCCTCTCACCAAAGGCCCG	0.577000											OREG0021783	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	282					9.58827e-17	1.64562e-16	1	1	0
CD8B	926	broad.mit.edu	37	2	87085311	87085311	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:87085311G>T	ENST00000390655.6	-	2	330	c.272C>A	c.(271-273)gCt>gAt	p.A91D	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.A91D|CD8B_ENST00000349455.3_Missense_Mutation_p.A91D|CD8B_ENST00000393761.2_Missense_Mutation_p.A91D|CD8B_ENST00000393759.2_Missense_Mutation_p.A91D	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	91	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.A91D(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CCGAAACACAGCTATCTTCTC	0.567000													25	172					5.35356e-11	7.8969e-11	1	1	0
ZSWIM1	90204	broad.mit.edu	37	20	44512223	44512223	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:44512223A>G	ENST00000372523.1	+	2	1087	c.992A>G	c.(991-993)aAt>aGt	p.N331S	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.N331S	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	331							zinc ion binding	p.N331S(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CACTCCCTCAATGCCATCTGC	0.572000													21	238					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328907	74328907	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:74328907C>A	ENST00000409262.3	+	9	4587	c.4587C>A	c.(4585-4587)ctC>ctA	p.L1529L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1529							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L1529L(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCCATCCTCATCGAGTGTG	0.652000													16	172					5.35267e-07	6.73816e-07	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248343733	248343733	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248343733G>T	ENST00000359682.2	+	1	446	c.446G>T	c.(445-447)tGg>tTg	p.W149L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W149L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCTTCTCCTGGATCCTGGGC	0.438000													174	565					4.46185e-56	9.42244e-56	1	1	0
LOC101929006	101929006	broad.mit.edu	37	6	29230554	29230554	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29230554G>T	ENST00000441381.1	+	0	79																		p.P269I(1)									TCCTGAGATGGACTGTTTCCT	0.433000													19	107					1.28384e-07	1.65084e-07	1	1	0
SP2	6668	broad.mit.edu	37	17	45993627	45993627	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:45993627C>A	ENST00000376741.4	+	3	327	c.190C>A	c.(190-192)Ccg>Acg	p.P64T	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	64					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						ACAGCCCACACCGCGGAAACT	0.537000													20	552					7.41877e-09	9.95747e-09	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15651462	15651462	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:15651462C>G	ENST00000269703.2	+	8	1072	c.873C>G	c.(871-873)gcC>gcG	p.A291A	CYP4F22_ENST00000601005.2_Silent_p.A291A	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	291						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.E292K(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCAGGGGGCCGAGGCCTGGC	0.652000													9	129					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49239371	49239371	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49239371G>A	ENST00000308025.3	-	2	274	c.195C>T	c.(193-195)tcC>tcT	p.S65S	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	65	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.S65S(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTGCAGATTTGGAACGGGAAC	0.478000													40	204					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11468710	11468710	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:11468710C>A	ENST00000423059.3	-	14	3358	c.3107G>T	c.(3106-3108)tGc>tTc	p.C1036F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1036	TSP type-1 11.					integral to membrane		p.C1036F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACTGAGCTTGCAGTCTGAGGG	0.512000										HNSCC(18;0.044)			115	284					1.81606e-51	3.82853e-51	1	1	0
LIPA	3988	broad.mit.edu	37	10	91007376	91007376	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:91007376G>C	ENST00000336233.5	-	2	352	c.30C>G	c.(28-30)gtC>gtG	p.V10V	LIPA_ENST00000456827.1_Silent_p.V10V|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	10					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GAACCAAACAGACCACCAACC	0.378000													3	86					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329183	18329183	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:18329183G>T	ENST00000355502.3	-	14	2062	c.1191C>A	c.(1189-1191)gcC>gcA	p.A397A	PDE4C_ENST00000262805.11_Silent_p.A365A|PDE4C_ENST00000447275.2_Silent_p.A291A|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Silent_p.A397A|PDE4C_ENST00000594617.2_Silent_p.A397A|PDE4C_ENST00000539010.1_Silent_p.A166A			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	397					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.A397E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCGTGGACTGGGCCACGTCGG	0.652000													71	267					7.62596e-35	1.56078e-34	1	1	0
MMP16	4325	broad.mit.edu	37	8	89180010	89180010	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:89180010A>T	ENST00000286614.6	-	4	878	c.597T>A	c.(595-597)ttT>ttA	p.F199L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	199					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCTCTCCATCAAAGGGAGAGC	0.443000													17	80					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165532902	165532902	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:165532902G>T	ENST00000294818.1	+	2	1073	c.783G>T	c.(781-783)gtG>gtT	p.V261V	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	261						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CGGGAACTGTGGCTGCCTGGC	0.577000													11	103					4.68919e-08	6.13567e-08	1	1	0
C10orf120	399814	broad.mit.edu	37	10	124457441	124457441	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:124457441C>A	ENST00000329446.4	-	3	847	c.816G>T	c.(814-816)ccG>ccT	p.P272P		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	272								p.P272P(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGGACCGTTCCGGTTTCTTTG	0.378000													14	250					2.61681e-11	3.89509e-11	1	1	0
PLEKHM3	389072	broad.mit.edu	37	2	208865799	208865799	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:208865799G>C	ENST00000457206.1	-	2	992	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.L189V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.L189V			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	189					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGGGCAACAGAAAAGATGGC	0.428000													3	14					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18780069	18780069	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:18780069C>T	ENST00000599006.1	+	4	450	c.423C>T	c.(421-423)ccC>ccT	p.P141P	KLHL26_ENST00000300976.4_3'UTR			Q53HC5	KLH26_HUMAN	kelch-like family member 26	0										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCAAGACCCCCGGGACCCTGG	0.701000													12	81					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29624870	29624870	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29624870C>T	ENST00000318184.5	-	16	1720	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	574					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCCTGCGATTCTTCTGGAAAG	0.498000													4	59					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219131295	219131295	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:219131295G>A	ENST00000248450.4	-	5	720	c.550C>T	c.(550-552)Cct>Tct	p.P184S	AAMP_ENST00000444053.1_Missense_Mutation_p.P185S|AAMP_ENST00000420660.1_Missense_Mutation_p.P165S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	184					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.P184S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGCCCGAGGATGCCACTCC	0.632000													6	103					0	0	1	0	0
EMC7	56851	broad.mit.edu	37	15	34376541	34376541	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:34376541C>A	ENST00000256545.4	-	5	831	c.723G>T	c.(721-723)agG>agT	p.R241S		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7									p.R241S(1)									CTGACTACCTCCTTTTGCCAG	0.478000													10	92					0.00621372	0.00650784	1	1	0
CHRFAM7A	89832	broad.mit.edu	37	15	30659662	30659662	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:30659662A>G	ENST00000397827.3	-	8	1180	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.Y136H|CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.Y227H	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	227						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	p.Y227H(1)		large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGGTGGTGGTACTGCAGCACG	0.632000													13	199					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416163	150416163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:150416163G>T	ENST00000307194.5	+	2	168	c.28G>T	c.(28-30)Gaa>Taa	p.E10*		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.E10*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCGACAGATGAAGAAAATGT	0.413000													12	119					5.50884e-06	6.56782e-06	1	1	0
ANKS6	203286	broad.mit.edu	37	9	101552507	101552507	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:101552507C>T	ENST00000353234.4	-	2	788	c.741G>A	c.(739-741)aaG>aaA	p.K247K	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Silent_p.K52K|ANKS6_ENST00000375018.1_Silent_p.K247K|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	247								p.K247K(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGTTGGCGCCCTTCTCCACCA	0.672000													21	131					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719714	160719714	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:160719714G>T	ENST00000368043.3	+	3	517	c.480G>T	c.(478-480)gtG>gtT	p.V160V	SLAMF7_ENST00000458602.2_Silent_p.V53V|SLAMF7_ENST00000359331.4_Silent_p.V160V|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.V53V|SLAMF7_ENST00000458104.2_Silent_p.V53V	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	160	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	p.V160V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AAGAGGATGTGATTTATACCT	0.507000													32	276					8.16721e-17	1.40369e-16	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22370902	22370902	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:22370902C>T	ENST00000400546.1	+	1	270	c.21C>T	c.(19-21)ttC>ttT	p.F7F	NCAM2_ENST00000284894.7_Silent_p.F7F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	7					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.F7F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCCTCTCCTTCTACCTGCTGG	0.562000													11	56					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79454738	79454738	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:79454738C>A	ENST00000507668.2	-	8	1057	c.907G>T	c.(907-909)Ggt>Tgt	p.G303C	SERINC5_ENST00000512721.1_Missense_Mutation_p.G303C|SERINC5_ENST00000509193.1_Missense_Mutation_p.G301C|SERINC5_ENST00000512972.2_Missense_Mutation_p.G303C	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	303					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		p.G303C(1)|p.G302C(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AGGTCTTGACCAAAGTCAGGC	0.398000													11	173					0.000673444	0.000730879	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25327821	25327821	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25327821G>T	ENST00000546682.1	+	0	157				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GGAGTCCTAGGACATGTGTGG	0.502000													5	56					1.23904e-05	1.45532e-05	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83689790	83689790	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:83689790G>T	ENST00000265362.3	-	5	852	c.538C>A	c.(538-540)Ctt>Att	p.L180I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L180I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	180	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.L180I(2)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCTATTAAAAGGGATGCTGTC	0.343000													46	284					9.40368e-32	1.89618e-31	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120478159	120478159	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:120478159C>T	ENST00000256646.2	-	22	3810	c.3591G>A	c.(3589-3591)caG>caA	p.Q1197Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1197	EGF-like 31; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.Q1197Q(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCTCCATTCTGGCAGGGCT	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				58	215					0	0	1	0	0
MRPL14	64928	broad.mit.edu	37	6	44081782	44081782	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:44081782C>G	ENST00000372014.3	-	3	367	c.236G>C	c.(235-237)gGa>gCa	p.G79A		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	79					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G79A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TTTCTTCTGTCCCTTGATGGC	0.567000													53	508					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533830	179533830	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179533830C>A	ENST00000367615.4	-	2	441	c.373G>T	c.(373-375)Gta>Tta	p.V125L	NPHS2_ENST00000367616.4_Missense_Mutation_p.V125L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	125					excretion	integral to plasma membrane	protein binding	p.V125L(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478000													9	116					0.000274275	0.000302072	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156751142	156751142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:156751142C>A	ENST00000537611.2	-	10	1430	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	462						integral to membrane|plasma membrane											TCAATAATTTCTATGATCGTG	0.363000													3	20					6.4e-05	7.27191e-05	1	1	0
NTNG2	84628	broad.mit.edu	37	9	135102294	135102294	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:135102294G>C	ENST00000393229.3	+	4	1692	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	NTNG2_ENST00000360670.3_Missense_Mutation_p.E306Q|NTNG2_ENST00000372179.3_Missense_Mutation_p.E306Q|NTNG2_ENST00000393228.4_Missense_Mutation_p.E306Q	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	306	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTGCAGTGCGAGTGCGAGCA	0.657000													5	73					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59203752	59203752	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:59203752C>A	ENST00000262717.4	+	8	1696	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	CDH20_ENST00000538374.1_Missense_Mutation_p.P433H|CDH20_ENST00000536675.2_Missense_Mutation_p.P433H			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	433	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P433H(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCAGTGACCCTGGAAGATTT	0.418000													28	244					1.50538e-07	1.93369e-07	1	1	0
POMT1	10585	broad.mit.edu	37	9	134394319	134394319	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:134394319C>T	ENST00000423007.1	+	15	1903	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Silent_p.N487N|POMT1_ENST00000354713.4_Silent_p.N457N|POMT1_ENST00000404875.2_Silent_p.N370N|POMT1_ENST00000372228.3_Silent_p.N509N|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000419118.2_Silent_p.N335N|POMT1_ENST00000341012.7_Silent_p.N433N|POMT1_ENST00000541219.1_Silent_p.N265N	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	509	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	p.N509N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CGGTGTGGAACGTGGAGGAGC	0.622000													11	134					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241752098	241752098	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:241752098C>G	ENST00000366559.4	+	12	1375	c.1064C>G	c.(1063-1065)gCg>gGg	p.A355G	KMO_ENST00000366558.3_Missense_Mutation_p.A355G|KMO_ENST00000366557.4_Missense_Mutation_p.A355G	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	355					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	p.A355G(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GATGATCACGCGATTTCAGAC	0.363000													21	132					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2136314	2136314	+	Missense_Mutation	SNP	G	G	A	rs45517369		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:2136314G>A	ENST00000219476.3	+	37	5413	c.4783G>A	c.(4783-4785)Gga>Aga	p.G1595R	TSC2_ENST00000401874.2_Missense_Mutation_p.G1528R|TSC2_ENST00000439673.2_Missense_Mutation_p.G1492R|TSC2_ENST00000382538.6_Missense_Mutation_p.G1480R|TSC2_ENST00000350773.4_Missense_Mutation_p.G1572R|TSC2_ENST00000353929.4_Missense_Mutation_p.G1552R|TSC2_ENST00000568454.1_Missense_Mutation_p.G1539R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1595	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGTGTACCTGGGAGGCCTGGA	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				5	87					0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42529730	42529730	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:42529730C>G	ENST00000389834.4	-	9	1032	c.768G>C	c.(766-768)ctG>ctC	p.L256L	TMEM87A_ENST00000448392.1_Silent_p.L195L	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	256						integral to membrane		p.L256L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACTGAATTCTCAGGAGATCTC	0.428000													10	94					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	60041	60041	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:60041C>A	ENST00000509152.2	+	3	406	c.221C>A	c.(220-222)cCc>cAc	p.P74H	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.P74H					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GCAGCCAAACCCCCAGGTAGG	0.498000													11	309					3.86212e-05	4.42621e-05	1	1	0
RELN	5649	broad.mit.edu	37	7	103162509	103162509	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103162509C>A	ENST00000424685.2	-	48	7787	c.7628G>T	c.(7627-7629)tGt>tTt	p.C2543F	RELN_ENST00000343529.5_Missense_Mutation_p.C2543F|RELN_ENST00000428762.1_Missense_Mutation_p.C2543F			P78509	RELN_HUMAN	reelin	2543					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.C2543F(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACGGCTCCACACACTGTACT	0.502000													20	176					1.15919e-05	1.37005e-05	1	1	0
PLEC	5339	broad.mit.edu	37	8	145012823	145012823	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:145012823C>A	ENST00000322810.4	-	2	730	c.561G>T	c.(559-561)aaG>aaT	p.K187N	PLEC_ENST00000354589.3_Missense_Mutation_p.K50N|PLEC_ENST00000398774.2_Missense_Mutation_p.K18N|PLEC_ENST00000527096.1_Missense_Mutation_p.K77N|PLEC_ENST00000436759.2_Missense_Mutation_p.K77N|PLEC_ENST00000354958.2_Missense_Mutation_p.K28N|PLEC_ENST00000357649.2_Missense_Mutation_p.K54N|PLEC_ENST00000345136.3_Missense_Mutation_p.K50N|PLEC_ENST00000356346.3_Missense_Mutation_p.K36N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	187	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.K77N(1)|p.K50N(1)|p.K187N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTTGACCCACTTGGTGAAGG	0.647000													15	150					1.37285e-15	2.30152e-15	1	1	0
ANO2	57101	broad.mit.edu	37	12	5724381	5724381	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5724381G>T	ENST00000546188.1	-	18	1973	c.1902C>A	c.(1900-1902)ccC>ccA	p.P634P	ANO2_ENST00000327087.8_Silent_p.P633P|ANO2_ENST00000356134.5_Silent_p.P634P			Q9NQ90	ANO2_HUMAN	anoctamin 2	638						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.P634P(1)|p.P633P(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATAGAAGATGGGGGAGTAGG	0.448000													10	46					6.40141e-05	7.27191e-05	1	1	0
C11orf35	256329	broad.mit.edu	37	11	557581	557581	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:557581G>A	ENST00000329451.3	-	6	677	c.615C>T	c.(613-615)ccC>ccT	p.P205P		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	205								p.P205P(1)		NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCCCGGTGGGGGCCTGAA	0.637000													6	91					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149155	73149155	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:73149155T>A	ENST00000286657.4	-	22	3352	c.3316A>T	c.(3316-3318)Atc>Ttc	p.I1106F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1106					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.I1106F(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTGAAGAGATGCTACTCAAA	0.468000													16	139					0	0	1	0	0
ULBP1	80329	broad.mit.edu	37	6	150289779	150289779	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:150289779C>T	ENST00000229708.2	+	2	165	c.122C>T	c.(121-123)cCt>cTt	p.P41L	ULBP1_ENST00000367345.1_Missense_Mutation_p.P41L	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	41	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	p.P41L(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		ATCATCACTCCTAAGTCCAGA	0.493000													37	194					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412420	50412420	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:50412420G>T	ENST00000596217.1	-	2	2532	c.645C>A	c.(643-645)acC>acA	p.T215T	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Silent_p.T215T|NUP62_ENST00000597029.1_Silent_p.T215T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.T215T|NUP62_ENST00000422090.2_Silent_p.T215T|NUP62_ENST00000413454.1_Silent_p.T215T			P37198	NUP62_HUMAN	nucleoporin 62kDa	215	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				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	p.T215T(1)		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)		GCCCAGTGCTGGTGATGGTGG	0.652000													65	183					6.25564e-26	1.20595e-25	1	1	0
GRM4	2914	broad.mit.edu	37	6	33996102	33996102	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:33996102C>G	ENST00000374181.3	-	9	2653	c.2484G>C	c.(2482-2484)ctG>ctC	p.L828L	GRM4_ENST00000544773.1_Silent_p.L659L|GRM4_ENST00000535756.1_Silent_p.L695L|GRM4_ENST00000455714.2_Silent_p.L688L|GRM4_ENST00000545715.1_Silent_p.L520L|GRM4_ENST00000538487.1_Silent_p.L828L|GRM4_ENST00000374177.3_Silent_p.L712L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	828					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L828L(2)|p.L712L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCGAGGCGCTCAGACTCACCG	0.632000													27	388					0	0	1	0	0
PPP3R1	5534	broad.mit.edu	37	2	68415748	68415748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:68415748C>A	ENST00000234310.3	-	3	521	c.118G>T	c.(118-120)Gtg>Ttg	p.V40L	PPP3R1_ENST00000409377.1_Missense_Mutation_p.V30L|PPP3R1_ENST00000409752.1_Missense_Mutation_p.V59L	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	40	EF-hand 1.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	p.V40L(1)		large_intestine(1)	1					Pimecrolimus(DB00337)	AACTCTTCCACACTCAAAGAA	0.368000													12	101					0.000978159	0.00105738	1	1	0
MYOC	4653	broad.mit.edu	37	1	171621555	171621555	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:171621555T>A	ENST00000037502.5	-	1	256	c.197A>T	c.(196-198)cAg>cTg	p.Q66L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	66					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.Q66L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACATGGCCTGGCTCTGCTC	0.572000													18	156					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250614	102250614	+	Missense_Mutation	SNP	G	G	T	rs137943907		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:102250614G>T	ENST00000376180.3	+	7	1199	c.980G>T	c.(979-981)tGc>tTc	p.C327F	ITGBL1_ENST00000545560.2_Missense_Mutation_p.C186F|ITGBL1_ENST00000376162.3_Missense_Mutation_p.C234F	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	327	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCAGGAAGTGCCAGGGAAGC	0.537000													11	87					5.16669e-11	7.63501e-11	1	1	0
ASB5	140458	broad.mit.edu	37	4	177142614	177142614	+	Missense_Mutation	SNP	C	C	A	rs140659869		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:177142614C>A	ENST00000296525.3	-	4	635	c.522G>T	c.(520-522)gaG>gaT	p.E174D	ASB5_ENST00000512254.1_Missense_Mutation_p.E121D	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	174					intracellular signal transduction			p.E174D(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TACTGGCGGCCTCATGCGTTG	0.498000													23	186					4.7796e-09	6.48547e-09	1	1	0
ASB6	140459	broad.mit.edu	37	9	132400147	132400147	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:132400147G>C	ENST00000277458.4	-	6	1353	c.1188C>G	c.(1186-1188)gtC>gtG	p.V396V	ASB6_ENST00000450050.2_Silent_p.V317V|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	396	SOCS box.				intracellular signal transduction	cytoplasm		p.V396V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCAGGGCTTTGACCTTCACAT	0.602000													15	123					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182389954	182389954	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:182389954C>A	ENST00000397033.2	+	21	2705	c.2275C>A	c.(2275-2277)Cta>Ata	p.L759I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	759					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.L759I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AATGGACAATCTAAAGCACAG	0.363000													16	65					1.45105e-14	2.36954e-14	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103526	53103526	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:53103526C>G	ENST00000408890.4	+	1	178	c.162C>G	c.(160-162)ccC>ccG	p.P54P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	54								p.P54P(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTCCCTGGCCCCTGAGGTCCC	0.701000													26	142					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053201	11053201	+	Missense_Mutation	SNP	G	G	T	rs147777200		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:11053201G>T	ENST00000295082.1	+	1	1139	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	217						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V217L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGGCAACCGCGTGGAGCACCC	0.642000													15	80					3.27435e-08	4.30043e-08	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22363284	22363284	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:22363284C>G	ENST00000263160.3	+	2	734	c.297C>G	c.(295-297)gtC>gtG	p.V99V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	99					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGACATGGTCAACAACAGCA	0.642000													15	138					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590746	179590746	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179590746G>T	ENST00000589042.1	-	70	20527	c.20303C>A	c.(20302-20304)cCt>cAt	p.P6768H	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6451H|TTN_ENST00000342992.6_Missense_Mutation_p.P5524H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6451	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTACTATAGGAGGGAAGCT	0.383000													5	124					0.0215528	0.0221851	1	1	0
OLR1	4973	broad.mit.edu	37	12	10321772	10321772	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:10321772G>T	ENST00000309539.3	-	2	139	c.79C>A	c.(79-81)Ctt>Att	p.L27I	OLR1_ENST00000432556.2_Missense_Mutation_p.L27I|OLR1_ENST00000544577.1_Missense_Mutation_p.L27I|OLR1_ENST00000545927.1_Missense_Mutation_p.L27I	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	27					blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	p.L27I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						AGAAACTGAAGACCTAGAGTG	0.463000													16	87					9.16793e-09	1.22639e-08	1	1	0
NUP133	55746	broad.mit.edu	37	1	229588382	229588382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:229588382C>A	ENST00000261396.3	-	22	3080	c.2989G>T	c.(2989-2991)Gag>Tag	p.E997*	NUP133_ENST00000366679.1_Nonsense_Mutation_p.E926*|NUP133_ENST00000537506.1_Nonsense_Mutation_p.E981*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	997					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.E997*(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CGCTCCTGCTCAGCCATTTCT	0.428000													15	77					6.31663e-08	8.22568e-08	1	1	0
CCDC39	339829	broad.mit.edu	37	3	180366130	180366130	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:180366130C>A	ENST00000273654.4	-	16	2056	c.1437G>T	c.(1435-1437)ctG>ctT	p.L479L	CCDC39_ENST00000442201.2_Silent_p.L395L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	395					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.L479L(1)|p.L395L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTATGAGGTTCAGTTGAACAT	0.299000													39	155					1.48734e-19	2.68201e-19	1	1	0
FANCM	57697	broad.mit.edu	37	14	45644869	45644869	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:45644869G>A	ENST00000267430.5	+	14	2997	c.2912G>A	c.(2911-2913)aGa>aAa	p.R971K	FANCM_ENST00000542564.2_Missense_Mutation_p.R945K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	971					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.R971K(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATATTGTTAGAACAGATGAC	0.333000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	103					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52816058	52816058	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:52816058C>A	ENST00000273283.2	+	7	814	c.790C>A	c.(790-792)Cga>Aga	p.R264R	ITIH1_ENST00000540715.1_Silent_p.R122R|ITIH1_ENST00000542827.1_Silent_p.R264R|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	264					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.R264R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CGATGTCAGTCGAGACAAGAT	0.587000													18	142					6.49762e-13	1.01709e-12	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55600113	55600113	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:55600113G>T	ENST00000373965.2	-	30	4365	c.3971C>A	c.(3970-3972)aCc>aAc	p.T1324N	PCDH15_ENST00000437009.1_Missense_Mutation_p.T1246N|PCDH15_ENST00000409834.1_Missense_Mutation_p.T928N|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1295N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1280N|PCDH15_ENST00000414778.1_Missense_Mutation_p.T1322N|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1317N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1317N|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1317N|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1324N|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1317N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1317					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCTCTGTTGGTTTGGGGGTC	0.428000										HNSCC(58;0.16)			13	199					1.49906e-05	1.75486e-05	1	1	0
ADCYAP1	116	broad.mit.edu	37	18	905476	905476	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:905476G>T	ENST00000579794.1	+	1	367	c.89G>T	c.(88-90)gGa>gTa	p.G30V	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.G30V|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	30					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GCCGCCGCCGGACTCCGGTTC	0.637000													10	186					0.000442599	0.000485495	1	1	0
C8orf44	56260	broad.mit.edu	37	8	67592149	67592149	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:67592149G>T	ENST00000519561.1	+	3	591	c.440G>T	c.(439-441)gGc>gTc	p.G147V	C8orf44-SGK3_ENST00000519289.1_5'UTR|C8orf44-SGK3_ENST00000520044.1_3'UTR|C8orf44_ENST00000518860.1_3'UTR|C8orf44_ENST00000390159.3_Missense_Mutation_p.G147V	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44	147										endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGTCCAAAGGCTTCTGGAGT	0.458000													8	37					0.000442599	0.000485495	1	1	0
IGSF3	3321	broad.mit.edu	37	1	117131682	117131682	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:117131682C>A	ENST00000369486.3	-	8	2839	c.2074G>T	c.(2074-2076)Gtg>Ttg	p.V692L	IGSF3_ENST00000369483.1_Missense_Mutation_p.V712L|IGSF3_ENST00000318837.6_Missense_Mutation_p.V712L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	692	Ig-like C2-type 6.					integral to membrane		p.V712L(1)|p.V692L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TTGTTTTCCACCAGGGTGAGG	0.532000													13	149					6.31663e-08	8.22568e-08	1	1	0
ZNF300P1	134466	broad.mit.edu	37	5	150310650	150310650	+	RNA	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:150310650T>A	ENST00000520773.1	-	0	2671																											TTTTCCACATTTGGTACATTT	0.423000													6	32					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66063494	66063494	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:66063494C>A	ENST00000503581.1	-	9	1853	c.1316G>T	c.(1315-1317)gGg>gTg	p.G439V	EYS_ENST00000370621.3_Missense_Mutation_p.G439V|EYS_ENST00000370618.3_Missense_Mutation_p.G439V|EYS_ENST00000342421.5_Missense_Mutation_p.G439V|EYS_ENST00000370616.2_Missense_Mutation_p.G439V|EYS_ENST00000393380.2_Missense_Mutation_p.G439V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	439					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						TTTTGTGCACCCTGGAATGCA	0.313000													7	94					0.0381472	0.0389886	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186673634	186673634	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:186673634C>A	ENST00000343098.5	+	17	19868	c.19868C>A	c.(19867-19869)cCa>cAa	p.P6623Q	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6534Q	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.P1232Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATAGATCCAAAAATTATT	0.318000													20	77					2.27731e-05	2.64573e-05	1	1	0
IGLC7	28834	broad.mit.edu	37	22	23264906	23264906	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:23264906C>A	ENST00000390331.1	+	0	141																											AGATGGCAGCCCCGTCAAGGT	0.587000													16	104					1.15088e-07	1.48142e-07	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179659901	179659901	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179659901C>A	ENST00000444136.1	+	18	3181	c.2931C>A	c.(2929-2931)gaC>gaA	p.D977E	TDRD5_ENST00000367614.1_Missense_Mutation_p.D923E|TDRD5_ENST00000294848.8_Missense_Mutation_p.D923E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	923					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.D923E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTACAAAGACAAGCGTCAAG	0.413000													50	93					1.86633e-21	3.4464e-21	1	1	0
COL15A1	1306	broad.mit.edu	37	9	101816919	101816919	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:101816919G>C	ENST00000375001.3	+	32	3435	c.3012G>C	c.(3010-3012)caG>caC	p.Q1004H		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1004	Triple-helical region 6 (COL6).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AAGGCGACCAGGGAGCCCAGG	0.458000													4	47					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030954	33030954	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:33030954C>A	ENST00000340811.4	-	3	968	c.860G>T	c.(859-861)aGg>aTg	p.R287M	PKP2_ENST00000070846.6_Missense_Mutation_p.R287M	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	287					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R287M(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAGGAGGACCTGGAAGCCCT	0.642000													10	116					4.68919e-08	6.13567e-08	1	1	0
DIO2	1734	broad.mit.edu	37	14	80677676	80677676	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:80677676G>T	ENST00000557010.1	-	3	525	c.140C>A	c.(139-141)aCt>aAt	p.T47N	DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.T47N|DIO2_ENST00000438257.4_Missense_Mutation_p.T47N|DIO2_ENST00000555750.1_Missense_Mutation_p.T47N	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	47					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.T47N(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCTCCGCGAGTGGACTTGGA	0.567000													27	41					1.45844e-13	2.32743e-13	1	1	0
SYT4	6860	broad.mit.edu	37	18	40853820	40853820	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:40853820G>T	ENST00000255224.3	-	2	942	c.574C>A	c.(574-576)Cca>Aca	p.P192T	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.P174T	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	192	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.P192T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTGATATATGGGTCAGAGGTC	0.433000													15	120					6.31663e-08	8.22568e-08	1	1	0
CXorf36	79742	broad.mit.edu	37	X	45013397	45013397	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:45013397G>T	ENST00000398000.2	-	4	793	c.719C>A	c.(718-720)tCc>tAc	p.S240Y	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	240						extracellular region		p.S240*(1)		endometrium(1)|large_intestine(2)|lung(4)	7						TCTGCCACAGGAGCCCAGGTA	0.582000													18	38					1.99824e-07	2.55608e-07	1	1	0
ERCC5	2073	broad.mit.edu	37	13	103514736	103514736	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:103514736G>T	ENST00000355739.4	+	8	2660	c.1237G>T	c.(1237-1239)Ggg>Tgg	p.G413W	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R838M	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5									p.G413W(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCAGACGGGAGGGCCAGGAGC	0.483000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				58	100					8.4772e-36	1.74226e-35	1	1	0
LRIT1	26103	broad.mit.edu	37	10	85993850	85993850	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:85993850C>A	ENST00000372105.3	-	3	895	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	292	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGGGCCTGCCATTGGCCCTC	0.592000													6	123					8.12818e-05	9.18253e-05	1	1	0
GBP6	163351	broad.mit.edu	37	1	89849270	89849270	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:89849270G>C	ENST00000370456.4	+	9	1518	c.1425G>C	c.(1423-1425)ttG>ttC	p.L475F	GBP6_ENST00000535065.1_Missense_Mutation_p.L345F	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	475							GTP binding|GTPase activity	p.L475F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AATCCATCTTGCAGTCAGATA	0.463000													35	99					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963070	54963070	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:54963070G>T	ENST00000243052.3	+	4	766	c.330G>T	c.(328-330)cgG>cgT	p.R110R	PDE1B_ENST00000550620.1_Silent_p.R90R|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.R69R	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	110					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R110L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGCAGGCCCGGGCCAAAGGCC	0.642000													18	129					9.16793e-09	1.22639e-08	1	1	0
ZBTB18	10472	broad.mit.edu	37	1	244218404	244218404	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:244218404G>T	ENST00000358704.4	+	2	1477	c.1328G>T	c.(1327-1329)gGg>gTg	p.G443V		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.G434V(1)									ACTCACTCGGGGGAGAAGCCC	0.632000													19	261					1.96292e-10	2.82091e-10	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													5	10					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143003332	143003332	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:143003332G>T	ENST00000513000.1	-	26	2927	c.2494C>A	c.(2494-2496)Cgc>Agc	p.R832S	INPP4B_ENST00000508116.1_Missense_Mutation_p.R832S|INPP4B_ENST00000308502.4_Missense_Mutation_p.R832S|INPP4B_ENST00000509777.1_Missense_Mutation_p.R832S|INPP4B_ENST00000262992.4_Missense_Mutation_p.R832S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	832					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.C831_R832>*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCAGTTTGCGGCAAATCTGT	0.398000													14	116					3.27435e-08	4.30043e-08	1	1	0
KIF21A	55605	broad.mit.edu	37	12	39751055	39751055	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:39751055C>A	ENST00000395670.3	-	9	1819	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	KIF21A_ENST00000541463.2_Missense_Mutation_p.R467I|KIF21A_ENST00000361961.3_Missense_Mutation_p.R467I|KIF21A_ENST00000361418.5_Missense_Mutation_p.R467I|KIF21A_ENST00000544797.2_Missense_Mutation_p.R467I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	467					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R467I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATACCTGCTCTGGCAAGAAC	0.443000													30	125					2.80507e-11	4.17025e-11	1	1	0
ANKMY2	57037	broad.mit.edu	37	7	16666731	16666731	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:16666731C>A	ENST00000306999.2	-	3	448	c.205G>T	c.(205-207)Gga>Tga	p.G69*		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	69						cilium	zinc ion binding	p.G69*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACATCGGCTCCATGTCGCAGT	0.353000													10	107					4.68919e-08	6.13567e-08	1	1	0
SLC2A2	6514	broad.mit.edu	37	3	170716031	170716031	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:170716031C>A	ENST00000314251.3	-	10	1404	c.1325G>T	c.(1324-1326)aGc>aTc	p.S442I	SLC2A2_ENST00000382808.4_Missense_Mutation_p.S323I	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	442					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	p.S442I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GGTCCAATTGCTGAATGCAGC	0.463000													20	138					1.96292e-10	2.82091e-10	1	1	0
AAK1	22848	broad.mit.edu	37	2	69706164	69706164	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:69706164C>A	ENST00000409085.4	-	20	2975	c.2599G>T	c.(2599-2601)Gat>Tat	p.D867Y	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	867						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.D867Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGAGAGCAATCAAGCAGGGAA	0.463000													13	203					4.93089e-13	7.79297e-13	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33566867	33566867	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:33566867G>C	ENST00000321505.4	+	2	2617	c.2437G>C	c.(2437-2439)Ggc>Cgc	p.G813R	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G819R|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G819R					KIAA1549-like																		GGTCACGACTGGCAAAATGGC	0.537000													7	55					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777852	31777852	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31777852G>A	ENST00000375654.4	-	2	2087	c.1898C>T	c.(1897-1899)aCa>aTa	p.T633I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T633I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	633					response to unfolded protein		ATP binding	p.T633I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGGGGCCTGTGGCAGGCCT	0.458000													17	141					0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109953731	109953731	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:109953731G>T	ENST00000271308.4	-	7	483	c.463C>A	c.(463-465)Cat>Aat	p.H155N	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Missense_Mutation_p.H97N	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	155					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		GGGTCCATATGAAACCTGCAA	0.463000													8	34					6.5536e-12	9.97252e-12	1	1	0
UMOD	7369	broad.mit.edu	37	16	20352561	20352561	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20352561C>T	ENST00000396134.2	-	8	1651	c.1528G>A	c.(1528-1530)Gtg>Atg	p.V510M	UMOD_ENST00000570689.1_Missense_Mutation_p.V477M|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Missense_Mutation_p.V477M|UMOD_ENST00000396142.2_Missense_Mutation_p.V477M|UMOD_ENST00000396138.4_Missense_Mutation_p.V526M|UMOD_ENST00000424589.1_Missense_Mutation_p.V510M	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	477	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V477M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACAGTGTCACGGAGGAGCCT	0.592000													39	79					0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959435	8959435	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:8959435G>T	ENST00000325884.1	-	2	333	c.274C>A	c.(274-276)Cca>Aca	p.P92T	ASCL3_ENST00000531618.1_Missense_Mutation_p.P92T	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	91					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	p.P92T(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTGAAGGCTGGCCCGTAGGAG	0.537000													20	127					3.62473e-10	5.15182e-10	1	1	0
CAPN13	92291	broad.mit.edu	37	2	30975918	30975918	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:30975918C>A	ENST00000295055.8	-	10	1264		c.e10+1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTCATGATTACCTGCAGTGTT	0.512000													59	395					3.33906e-19	5.98156e-19	1	1	0
PRKAR1B	5575	broad.mit.edu	37	7	591043	591043	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:591043C>G	ENST00000406797.1	-	10	1130	c.956G>C	c.(955-957)gGa>gCa	p.G319A	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.G319A|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.G319A|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.G319A|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.G319A	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	319					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.G319A(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GTCAGAGGGTCCCAGGCGCCC	0.677000													5	14					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78324471	78324471	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78324471C>G	ENST00000255189.3	-	12	1845	c.1817G>C	c.(1816-1818)tGg>tCg	p.W606S	DMGDH_ENST00000380311.4_Missense_Mutation_p.W405S|DMGDH_ENST00000540686.1_Missense_Mutation_p.W226S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	606					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.W606S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCTTCAATCCATCTGCGTTT	0.363000													19	306					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127898540	127898540	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:127898540G>C	ENST00000329722.7	+	1	222	c.210G>C	c.(208-210)caG>caC	p.Q70H	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	70						extracellular region		p.Q70H(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TATTGAATCAGACAGCCAGGT	0.413000													41	143					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316800	39316800	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39316800G>A	ENST00000390661.3	-	1	183	c.144C>T	c.(142-144)ccC>ccT	p.P48P		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	48	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament		p.P48P(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCAGCACTGGGGTCTGCAGC	0.662000													93	158					0	0	1	0	0
C16orf80	29105	broad.mit.edu	37	16	58148824	58148824	+	Splice_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:58148824T>C	ENST00000262498.3	-	5	800	c.465_splice	c.e5-1	p.I156_splice		NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	156					multicellular organismal development			p.I156V(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTTGCATGGATCTGTCAAGGC	0.488000													9	60					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332249	100332249	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:100332249C>A	ENST00000341853.1	-	0	1942					NR_003260.1																						GGTCCCAGCCCCAGTGACTAG	0.637000													13	61					0.00244969	0.00261244	1	1	0
HLTF	6596	broad.mit.edu	37	3	148759310	148759310	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:148759310T>A	ENST00000310053.5	-	20	2536	c.2343A>T	c.(2341-2343)aaA>aaT	p.K781N	HLTF_ENST00000494055.1_Missense_Mutation_p.K781N|HLTF_ENST00000465259.1_Missense_Mutation_p.K780N|HLTF_ENST00000392912.2_Missense_Mutation_p.K781N	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	781					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.K781N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAATACAGGGTTTACAAAATA	0.363000													27	145					0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330424	75330424	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:75330424G>T	ENST00000556084.2	-	1	113	c.114C>A	c.(112-114)tcC>tcA	p.S38S	PROX2_ENST00000445876.1_Silent_p.S38S|PROX2_ENST00000556489.2_Silent_p.S38S	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	38					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S38S(2)		kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGGGAAACGGGGAGTCTCTAT	0.577000													44	73					6.48837e-15	1.07165e-14	1	1	0
WDR75	84128	broad.mit.edu	37	2	190323581	190323581	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:190323581T>A	ENST00000314761.4	+	7	732	c.672T>A	c.(670-672)gaT>gaA	p.D224E		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	224						nucleolus		p.D224_G225>EC(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GTCACATGGATGGCAAAATTC	0.408000													39	198					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400265	78400265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78400265G>T	ENST00000397909.2	+	8	1120	c.947G>T	c.(946-948)gGg>gTg	p.G316V	NAV3_ENST00000266692.7_Missense_Mutation_p.G316V|NAV3_ENST00000536525.2_Missense_Mutation_p.G316V|NAV3_ENST00000228327.6_Missense_Mutation_p.G316V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	316						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.G316V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTACTGCTGGGCAGCCTCCT	0.507000										HNSCC(70;0.22)			28	116					4.22769e-11	6.27006e-11	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982364	7982364	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7982364C>A	ENST00000328600.2	-	2	956	c.795G>T	c.(793-795)agG>agT	p.R265S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	265	NACHT.						ATP binding	p.R265S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACTCAAACCCCTCTTCTTCA	0.552000													22	154					1.55795e-14	2.54071e-14	1	1	0
TLL1	7092	broad.mit.edu	37	4	166976235	166976235	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:166976235G>C	ENST00000061240.2	+	13	2179	c.1532G>C	c.(1531-1533)aGa>aCa	p.R511T	TLL1_ENST00000507499.1_Missense_Mutation_p.R534T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	511	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R511T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAGATTGAAAGACATGACAAT	0.348000													17	129					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957895	74957895	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:74957895C>T	ENST00000370891.2	+	25	2615	c.2599C>T	c.(2599-2601)Cgt>Tgt	p.R867C	TNNI3K_ENST00000326637.3_Missense_Mutation_p.R766C|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R867C|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.R766C(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						ATTAAGAAGTCGTTTCGAATT	0.453000													21	248					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798241	55798241	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55798241C>A	ENST00000313555.1	+	1	347	c.347C>A	c.(346-348)gCa>gAa	p.A116E		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A116E(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CTTATCCTGGCAGCAATGGCT	0.463000													7	101					0.00198382	0.00211837	1	1	0
MTMR8	55613	broad.mit.edu	37	X	63445161	63445161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:63445161C>A	ENST00000453546.1	-	10	1584	c.1495G>T	c.(1495-1497)Gtg>Ttg	p.V499L	ASB12_ENST00000362002.2_Missense_Mutation_p.V124L|ASB12_ENST00000396130.2_Missense_Mutation_p.V115L			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	315	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.V124L(1)|p.V115L(1)|p.V499L(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TCCAAAAGCACACGTACACAG	0.537000													14	29					2.31682e-05	2.68149e-05	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	109					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41533580	41533580	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:41533580G>A	ENST00000373060.1	+	2	540	c.82G>A	c.(82-84)Gat>Aat	p.D28N	FOXP4_ENST00000307972.4_Missense_Mutation_p.D28N|FOXP4_ENST00000373063.3_Missense_Mutation_p.D28N|FOXP4_ENST00000409208.1_Missense_Mutation_p.D28N|FOXP4_ENST00000373057.3_Missense_Mutation_p.D28N	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	28					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TGGGCAAGCCGATGGCAGCAG	0.622000													23	223					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24380111	24380111	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:24380111C>A	ENST00000382172.3	-	16	1924	c.1826G>T	c.(1825-1827)gGc>gTc	p.G609V		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	609					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.G609F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATATGGTAGGCCATAGAATTT	0.418000													34	181					1.22384e-17	2.14084e-17	1	1	0
SMOC2	64094	broad.mit.edu	37	6	168999530	168999530	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:168999530C>A	ENST00000354536.5	+	8	923	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	SMOC2_ENST00000356284.2_Missense_Mutation_p.L224M	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	224	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCAGTCTGCCCTGGAGGAAGC	0.602000													12	224					3.27435e-08	4.30043e-08	1	1	0
NPPB	4879	broad.mit.edu	37	1	11918461	11918461	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:11918461G>A	ENST00000376468.3	-	2	295	c.198C>T	c.(196-198)ccC>ccT	p.P66P		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	66					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	p.P66P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	TCTCCTGGAGGGGCTCCAGGG	0.647000													5	70					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136406064	136406064	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:136406064G>T	ENST00000393061.3	+	7	1382	c.950G>T	c.(949-951)gGg>gTg	p.G317V	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G208V|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G208V			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	208					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		ATCTGCCAGGGGGACGGTAGC	0.637000													3	67					0.150653	0.152642	1	1	0
ANKRD35	148741	broad.mit.edu	37	1	145563069	145563069	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145563069C>A	ENST00000355594.4	+	10	2844	c.2757C>A	c.(2755-2757)ctC>ctA	p.L919L		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	919								p.L919L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGAGCATCTCATTGGGGCTT	0.567000													19	163					3.62473e-10	5.15182e-10	1	1	0
KRT72	140807	broad.mit.edu	37	12	52992867	52992867	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52992867C>A	ENST00000293745.2	-	2	541	c.456G>T	c.(454-456)gtG>gtT	p.V152V	KRT72_ENST00000537672.2_Silent_p.V152V|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Silent_p.V152V	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	152	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.V152V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTCTCTAGCACCTGATTCT	0.557000													17	109					7.07596e-05	8.03447e-05	1	1	0
DMRT1	1761	broad.mit.edu	37	9	847035	847035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:847035G>T	ENST00000382276.3	+	2	579	c.430G>T	c.(430-432)Gag>Tag	p.E144*	DMRT1_ENST00000569227.1_5'UTR	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	144					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.E144*(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CAGTGCGGCCGAGCTGCTTGT	0.607000													15	108					7.93312e-07	9.82539e-07	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845057	248845057	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248845057C>A	ENST00000342623.3	-	1	572	c.549G>T	c.(547-549)ttG>ttT	p.L183F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L183F(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAACCAGGGCCAACACATGAG	0.498000													23	93					9.95505e-16	1.6712e-15	1	1	0
PPP1R15A	23645	broad.mit.edu	37	19	49376908	49376908	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:49376908G>T	ENST00000200453.5	+	2	687	c.418G>T	c.(418-420)Gct>Tct	p.A140S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	140	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.A140S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TGGCCAGCGTGCTCCCCTGTC	0.552000													29	253					3.73148e-12	5.7171e-12	1	1	0
ZP2	7783	broad.mit.edu	37	16	21217083	21217083	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21217083C>T	ENST00000574002.1	-	7	979	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	ZP2_ENST00000219593.4_Missense_Mutation_p.R166Q|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.R166Q			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	166					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	p.R166Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGAGAAGACCCGTGGCAAGGA	0.368000													15	64					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31779707	31779707	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31779707C>A	ENST00000382902.1	-	9	1326	c.1234G>T	c.(1234-1236)Ggc>Tgc	p.G412C	OTUD7A_ENST00000307050.4_Missense_Mutation_p.G405C			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	405	Catalytic (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.G405C(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGTCCTTGCCAGGGTCCACT	0.612000													7	63					5.18039e-06	6.22154e-06	1	1	0
ADGRG1	9289	broad.mit.edu	37	16	57697456	57697456	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:57697456C>T	ENST00000562631.1	+	14	2558	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	GPR56_ENST00000379694.4_Missense_Mutation_p.P512S|GPR56_ENST00000538815.1_Missense_Mutation_p.P676S|GPR56_ENST00000456916.1_Missense_Mutation_p.P682S|GPR56_ENST00000388812.4_Missense_Mutation_p.P682S|GPR56_ENST00000388813.5_Missense_Mutation_p.P676S|GPR56_ENST00000568909.1_Missense_Mutation_p.P682S|GPR56_ENST00000544297.1_Missense_Mutation_p.P501S|GPR56_ENST00000567835.1_Missense_Mutation_p.P682S|GPR56_ENST00000379696.3_Missense_Mutation_p.P682S|GPR56_ENST00000568908.1_Missense_Mutation_p.P676S|GPR56_ENST00000562558.1_Missense_Mutation_p.P676S|GPR56_ENST00000540164.2_Missense_Mutation_p.P676S			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	682					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	p.P682S(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CGCCAGGCTCCCCATCAGCTC	0.652000													27	161					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041694	65041694	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65041694T>A	ENST00000300069.4	-	4	472		c.e4-2		RBPMS2_ENST00000560606.1_Splice_Site	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding|nucleotide binding	p.?(1)		breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						ACCAACAGGCTAGTAGGAAAA	0.448000													29	163					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640813	32640813	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:32640813G>T	ENST00000421745.2	+	10	2588	c.2454G>T	c.(2452-2454)agG>agT	p.R818S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	818					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R790S(1)|p.R818S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGAGCAGAGGAATGTTAGTG	0.353000													17	79					3.45872e-05	4.00123e-05	1	1	0
PRDM15	63977	broad.mit.edu	37	21	43299465	43299465	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:43299465G>T	ENST00000422911.1	-	1	117	c.16C>A	c.(16-18)Ccc>Acc	p.P6T	PRDM15_ENST00000538201.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.P6T|PRDM15_ENST00000269844.3_Missense_Mutation_p.P6T			P57071	PRD15_HUMAN	PR domain containing 15	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GAAgccggggggcggcggcgg	0.746000													3	22					2.56e-06	3.11255e-06	1	1	0
MTPAP	55149	broad.mit.edu	37	10	30602883	30602883	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:30602883T>C	ENST00000358107.4	-	10	1793	c.1794A>G	c.(1792-1794)aaA>aaG	p.K598K	MTPAP_ENST00000263063.3_Silent_p.K468K|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	468					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.K598K(1)|p.K468K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAGAATCAGGTTTGTTTTGCT	0.323000													14	104					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42155769	42155769	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:42155769G>C	ENST00000225983.6	-	27	3670	c.3347C>G	c.(3346-3348)cCc>cGc	p.P1116R	HDAC5_ENST00000336057.5_Missense_Mutation_p.P1030R|HDAC5_ENST00000393622.2_Missense_Mutation_p.P1115R|HDAC5_ENST00000586802.1_Missense_Mutation_p.P1115R			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	1115					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.P1115R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGCTCCATGGGCTCCTCTGC	0.577000													4	62					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95774150	95774150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:95774150C>A	ENST00000272418.2	-	5	615	c.407G>T	c.(406-408)cGt>cTt	p.R136L		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	136					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	p.R136L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AAAACCATAACGCCCTGAAGG	0.388000													28	108					2.24059e-21	4.13441e-21	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24801619	24801619	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:24801619G>T	ENST00000395799.3	+	6	1785	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q552H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	552	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.Q552H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTCTAATGCAGCCTGGCGTAA	0.463000													15	159					0.000219431	0.00024441	1	1	0
COPB1	1315	broad.mit.edu	37	11	14504598	14504598	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:14504598C>A	ENST00000249923.3	-	8	1237	c.937G>T	c.(937-939)Gct>Tct	p.A313S	COPB1_ENST00000439561.2_Missense_Mutation_p.A313S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	313					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CGTTCATGAGCAGGATGCTCT	0.358000													9	61					2.17888e-05	2.53377e-05	1	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078778	107078778	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:107078778C>A	ENST00000390628.2	-	0	91																											GCTGCTCCCACCAAGAAGAGG	0.557000													35	161					1.20271e-06	1.48584e-06	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73800051	73800051	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:73800051G>C	ENST00000264448.6	+	16	11155	c.11044G>C	c.(11044-11046)Gag>Cag	p.E3682Q	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3640Q	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3682					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E3682Q(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAAAAGCCTAGAGAAAAGCCA	0.383000													29	205					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397614	22397614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:22397614G>T	ENST00000263160.3	+	10	1698	c.1261G>T	c.(1261-1263)Gga>Tga	p.G421*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	421					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G421*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACTTGCAGTGGGATTCAGTGG	0.398000													20	148					1.55795e-14	2.54071e-14	1	1	0
SDK1	221935	broad.mit.edu	37	7	4116809	4116809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4116809G>T	ENST00000404826.2	+	21	3329	c.3190G>T	c.(3190-3192)Gga>Tga	p.G1064*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.G1064*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1064					cell adhesion	integral to membrane		p.G1064L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTTCTTCTGGAGTGCCCCC	0.557000													12	78					2.80697e-09	3.83849e-09	1	1	0
GJA9	81025	broad.mit.edu	37	1	39340852	39340852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:39340852G>A	ENST00000454994.2	-	2	1195	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Nonsense_Mutation_p.Q307*|GJA9_ENST00000357771.3_Nonsense_Mutation_p.Q307*			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	307					cell communication	connexon complex|integral to membrane		p.Q307*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GGATTTGGCTGGAATACAGAA	0.383000													12	210					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634571	156634571	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:156634571C>A	ENST00000296518.7	+	7	1617	c.1408C>A	c.(1408-1410)Caa>Aaa	p.Q470K	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.Q212K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.Q470K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.Q470K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	470					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.Q470K(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGGCAAGGGCAAGTTGTGCA	0.527000													13	110					5.50884e-06	6.56782e-06	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627457	43627457	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:43627457C>A	ENST00000332857.6	-	4	1258	c.1230G>T	c.(1228-1230)aaG>aaT	p.K410N		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.K410N(1)									GGCTATAATTCTTCCAAAAAC	0.517000													199	204					6.1604e-97	1.31794e-96	1	1	0
HGF	3082	broad.mit.edu	37	7	81335050	81335050	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:81335050A>C	ENST00000222390.5	-	16	2003	c.1777T>G	c.(1777-1779)Ttt>Gtt	p.F593V	HGF_ENST00000457544.2_Missense_Mutation_p.F588V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	593	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.F593V(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTACTAACAAAATCATCCAGG	0.363000													8	100					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	945483	945483	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:945483C>G	ENST00000264771.4	+	6	541	c.356C>G	c.(355-357)aCc>aGc	p.T119S	TMEM175_ENST00000508204.1_Missense_Mutation_p.T37S|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Missense_Mutation_p.T3S	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	119						integral to membrane		p.T119S(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCATGATGACCATCACCTTC	0.612000													17	237					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32355983	32355983	+	Silent	SNP	C	C	G	rs139087778	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:32355983C>G	ENST00000265069.8	-	20	3210	c.3108G>C	c.(3106-3108)ccG>ccC	p.P1036P	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1036	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.P1036P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGCTCATTTGCGGTAATGGAT	0.398000													19	228					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228986	118228986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:118228986G>T	ENST00000360388.4	+	1	298	c.97G>T	c.(97-99)Ggc>Tgc	p.G33C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	33					transport	integral to membrane		p.G33C(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GCCGGCCGAGGGCAGCGGCGG	0.741000													12	18					1.05317e-09	1.46882e-09	1	1	0
TCF20	6942	broad.mit.edu	37	22	42609766	42609766	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:42609766C>G	ENST00000359486.3	-	1	1682	c.1546G>C	c.(1546-1548)Gca>Cca	p.A516P	TCF20_ENST00000335626.4_Missense_Mutation_p.A516P	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.A516P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AATGACTCTGCCATAGGGGAC	0.522000													49	469					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476443	120476443	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:120476443C>A	ENST00000355622.6	+	3	2138	c.2037C>A	c.(2035-2037)atC>atA	p.I679I	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.I639I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	679	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.I679I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CCTTTGTTATCTACTCAAGCC	0.418000													13	109					6.72482e-11	9.86629e-11	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62320620	62320620	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:62320620C>A	ENST00000261517.5	-	6	459		c.e6-1		VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization			p.?(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAATGTGTGCCTGCATCCCAC	0.333000													16	83					3.32936e-07	4.22798e-07	1	1	0
NAV3	89795	broad.mit.edu	37	12	78513204	78513204	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78513204T>A	ENST00000397909.2	+	15	3401	c.3228T>A	c.(3226-3228)tcT>tcA	p.S1076S	NAV3_ENST00000266692.7_Silent_p.S1076S|NAV3_ENST00000536525.2_Silent_p.S1076S|NAV3_ENST00000228327.6_Silent_p.S1076S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1076	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S1076S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAGGGTCATCTGCCATGATCA	0.502000										HNSCC(70;0.22)			23	123					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36027810	36027810	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36027810C>A	ENST00000222286.4	+	2	279	c.163C>A	c.(163-165)Ccg>Acg	p.P55T		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	55					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	p.P55K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	AAAGCCACCACCGCCACCACT	0.612000													35	301					6.90743e-12	1.04979e-11	1	1	0
OR2A5	393046	broad.mit.edu	37	7	143748015	143748015	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:143748015T>A	ENST00000408906.2	+	1	555	c.521T>A	c.(520-522)aTc>aAc	p.I174N		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I174N(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCCCATGAAATCAACCACTTC	0.542000													47	475					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185704050	185704050	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:185704050G>T	ENST00000271588.4	+	1	368	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.D47Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	47	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.D47Y(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTGTGTTTGATGTGACTGG	0.448000													25	236					5.45024e-15	9.03225e-15	1	1	0
PELO	53918	broad.mit.edu	37	5	52097598	52097598	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:52097598G>T	ENST00000274311.2	+	3	2067	c.1082G>T	c.(1081-1083)gGg>gTg	p.G361V	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	361					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	p.G361V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CAGTTGACTGGGGTAGCTGCC	0.478000													8	47					1.06961e-07	1.387e-07	1	1	0
TMEM52B	120939	broad.mit.edu	37	12	10342590	10342590	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:10342590C>T	ENST00000298530.3	+	4	921	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	TMEM52B_ENST00000536952.1_Missense_Mutation_p.L135F|TMEM52B_ENST00000381923.2_Missense_Mutation_p.L135F	NM_153022.2	NP_694567.1			transmembrane protein 52B									p.L115F(1)									TTTGGACACCCTCCCAGGGTA	0.587000													22	79					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272029	52272029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52272029G>T	ENST00000598776.1	+	2	890	c.118G>T	c.(118-120)Ggg>Tgg	p.G40W	FPR2_ENST00000340023.6_Missense_Mutation_p.G40W|FPR2_ENST00000598953.1_Missense_Mutation_p.G40W	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	40					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.G40W(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTTTGTCCTCGGGGTCCTGGG	0.547000													57	137					1.95512e-22	3.65154e-22	1	1	0
KCNK17	89822	broad.mit.edu	37	6	39271732	39271732	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:39271732C>A	ENST00000453413.2	-	4	829		c.e4+1		KCNK17_ENST00000373231.4_Splice_Site	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17							integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GGAACTCTCACCAATCACGTA	0.617000													16	243					1.33834e-09	1.85285e-09	1	1	0
SNAPC1	6617	broad.mit.edu	37	14	62233743	62233743	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:62233743C>A	ENST00000216294.4	+	2	382	c.278C>A	c.(277-279)cCa>cAa	p.P93Q	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	93	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.P93Q(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CTGTGTCAACCAAAACAAAAG	0.299000													10	61					3.86212e-05	4.42621e-05	1	1	0
NDRG4	65009	broad.mit.edu	37	16	58541757	58541757	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:58541757C>A	ENST00000394282.4	+	11	1229	c.822C>A	c.(820-822)gcC>gcA	p.A274A	NDRG4_ENST00000394279.2_Silent_p.A254A|NDRG4_ENST00000566192.1_Silent_p.A222A|NDRG4_ENST00000570248.1_Silent_p.A222A|NDRG4_ENST00000569923.1_Silent_p.A167A|NDRG4_ENST00000356752.4_Silent_p.A252A|NDRG4_ENST00000258187.5_Silent_p.A254A|NDRG4_ENST00000562999.1_Silent_p.A222A|NDRG4_ENST00000563799.1_Silent_p.A240A|NDRG4_ENST00000568640.1_Silent_p.A240A	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	222					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		p.A254A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGCCCAATGCCAAGACGCTCC	0.667000													17	138					0.000175454	0.00019596	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30926193	30926193	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:30926193G>A	ENST00000383096.3	-	9	822	c.640C>T	c.(640-642)Cca>Tca	p.P214S	CCDC178_ENST00000300227.8_Missense_Mutation_p.P214S|CCDC178_ENST00000583930.1_Missense_Mutation_p.P214S|CCDC178_ENST00000403303.1_Missense_Mutation_p.P214S|CCDC178_ENST00000402325.1_Missense_Mutation_p.P214S|CCDC178_ENST00000406524.2_Missense_Mutation_p.P214S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.P214S					coiled-coil domain containing 178									p.P214S(2)									ACAGCCAATGGGAGTTCTTGA	0.348000													12	101					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29637972	29637972	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29637972C>A	ENST00000494692.1	+	6	614	c.614C>A	c.(613-615)cCc>cAc	p.P205H	MOG_ENST00000431798.2_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.P205H|MOG_ENST00000490427.1_Missense_Mutation_p.P89H|MOG_ENST00000376891.4_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376894.4_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000416766.2_Intron	NM_001008228.2|NM_206811.3	NP_001008229.1|NP_996534.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	220					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.P205H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTAGGACCCCAGGTTAAG	0.438000													13	113					0.000219431	0.00024441	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46314638	46314638	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:46314638C>A	ENST00000510861.1	-	5	524	c.351G>T	c.(349-351)atG>atT	p.M117I	GABRA2_ENST00000381620.4_Missense_Mutation_p.M117I|GABRA2_ENST00000507069.1_Missense_Mutation_p.M117I|GABRA2_ENST00000515082.1_Missense_Mutation_p.M117I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M117I|GABRA2_ENST00000514090.1_Missense_Mutation_p.M117I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M62I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	117					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.M117I(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTGCTAGCCATTAAATTGT	0.323000													9	129					0.00448238	0.0047329	1	1	0
LAIR1	3903	broad.mit.edu	37	19	54875903	54875903	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:54875903C>A	ENST00000434277.2	-	2	259	c.70_splice	c.e2+1	p.E23_splice	LAIR1_ENST00000348231.4_Splice_Site_p.E23_splice|LAIR1_ENST00000313038.6_Splice_Site_p.E17_splice|LAIR1_ENST00000391742.2_Splice_Site_p.E23_splice|LAIR1_ENST00000391743.3_Intron|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Splice_Site_p.E23_splice	NM_002287.3	NP_002278.1	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	23						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ATGACTTACCCTCCTGCGTGT	0.582000													7	109					1.26484e-09	1.75506e-09	1	1	0
MEIS1	4211	broad.mit.edu	37	2	66670112	66670112	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:66670112G>T	ENST00000488550.1	+	6	861	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	MEIS1_ENST00000272369.9_Missense_Mutation_p.D188Y|MEIS1_ENST00000444274.2_Missense_Mutation_p.D156Y|MEIS1_ENST00000407092.2_Missense_Mutation_p.D188Y|MEIS1_ENST00000560281.2_Missense_Mutation_p.D188Y|MEIS1_ENST00000398506.2_Missense_Mutation_p.D186Y|MEIS1_ENST00000495021.2_Missense_Mutation_p.D123Y			O00470	MEIS1_HUMAN	Meis homeobox 1	188							sequence-specific DNA binding transcription factor activity	p.D188Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TTTGGTGATAGACGATAGAGA	0.378000													76	232					1.38705e-31	2.79001e-31	1	1	0
TMPRSS7	344805	broad.mit.edu	37	3	111780676	111780676	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:111780676G>T	ENST00000452346.2	+	11	1356	c.1353G>T	c.(1351-1353)gtG>gtT	p.V451V	TMPRSS7_ENST00000419127.1_Silent_p.V325V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	451	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.V325V(1)|p.V180V(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTTCGAGTGCCCAGCCCTC	0.493000													22	185					1.10923e-09	1.54262e-09	1	1	0
ATM	472	broad.mit.edu	37	11	108153533	108153533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:108153533C>T	ENST00000278616.4	+	25	4058	c.3673C>T	c.(3673-3675)Caa>Taa	p.Q1225*	ATM_ENST00000452508.2_Nonsense_Mutation_p.Q1225*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1225					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.Q1225*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCTAAATCTTCAAGATACTGA	0.289000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	104					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898191	6898191	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6898191T>G	ENST00000379829.2	+	1	336	c.313T>G	c.(313-315)Ttc>Gtc	p.F105V		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F105V(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATGTATTTCTTCTTCTTTTT	0.517000													5	159					0	0	1	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514191	50514191	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:50514191G>A	ENST00000419119.1	-	2	2348	c.795C>T	c.(793-795)acC>acT	p.T265T	FIGNL1_ENST00000395556.2_Silent_p.T265T|FIGNL1_ENST00000356889.4_Silent_p.T265T|FIGNL1_ENST00000433017.1_Silent_p.T265T			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	265					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTGCATCAATGGTGCCAGAAC	0.393000													18	110					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30107960	30107960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:30107960C>A	ENST00000331968.5	-	5	1076	c.847G>T	c.(847-849)Gtg>Ttg	p.V283L	PRKD1_ENST00000415220.2_Missense_Mutation_p.V291L|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	283					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TACTGGCACACTGTGGGCCGG	0.468000													5	87					0.217242	0.218667	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237564	140237564	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140237564A>T	ENST00000307360.5	+	1	1931	c.1931A>T	c.(1930-1932)cAg>cTg	p.Q644L	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.Q644L(1)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCACGCCAGCGCCTACTG	0.672000													17	65					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885304	180885304	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:180885304G>T	ENST00000367588.4	+	2	120	c.65G>T	c.(64-66)gGg>gTg	p.G22V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	22										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCAAGACAGGGAGTGGAACA	0.617000													6	74					0.0293803	0.0301161	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57182643	57182643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:57182643G>T	ENST00000504228.1	+	6	3080	c.2975G>T	c.(2974-2976)cGa>cTa	p.R992L	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R992L|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R985L			Q6ZU35	K1211_HUMAN	KIAA1211	992	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGTCTCGCCGAGCGGGGAGG	0.657000													10	57					2.80697e-09	3.83849e-09	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78347268	78347268	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78347268T>C	ENST00000255189.3	-	5	615	c.587A>G	c.(586-588)tAt>tGt	p.Y196C	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	196					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.Y196C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGTTAGAGAATAAGGATCAAT	0.393000													10	152					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633572	179633572	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179633572G>T	ENST00000589042.1	-	38	9215	c.8991C>A	c.(8989-8991)atC>atA	p.I2997I	TTN_ENST00000359218.5_Silent_p.I2951I|TTN_ENST00000460472.2_Silent_p.I2951I|TTN_ENST00000342175.6_Silent_p.I2951I|TTN_ENST00000591111.1_Silent_p.I2997I|TTN_ENST00000360870.5_Silent_p.I2997I|TTN_ENST00000342992.6_Silent_p.I2997I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2735	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I2951I(3)|p.I2997I(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGTAAGAGATGCCTTCAT	0.393000													17	95					1.37522e-17	2.40224e-17	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72493775	72493775	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:72493775G>T	ENST00000373208.1	+	8	1352	c.1352G>T	c.(1351-1353)cGc>cTc	p.R451L	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R448L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	448	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R451L(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGCTCAGCCGCTACCTCCCG	0.637000													6	122					0.0293803	0.0301161	1	1	0
USP7	7874	broad.mit.edu	37	16	9004656	9004656	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9004656T>A	ENST00000344836.4	-	11	1305	c.1107A>T	c.(1105-1107)gcA>gcT	p.A369A	USP7_ENST00000535863.1_Silent_p.A270A|USP7_ENST00000381886.4_Silent_p.A353A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	369					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A369A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTGTTCTACTGCCACATAAT	0.393000													19	90					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70049343	70049343	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:70049343G>T	ENST00000370598.1	+	26	4227	c.3406G>T	c.(3406-3408)Gat>Tat	p.D1136Y	BAI3_ENST00000238918.8_Missense_Mutation_p.D342Y|BAI3_ENST00000546190.1_Missense_Mutation_p.D100Y	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1136					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGCTGTGTTTGATTCATTGCA	0.443000													22	261					5.26018e-13	8.28672e-13	1	1	0
FSHR	2492	broad.mit.edu	37	2	49190600	49190600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:49190600C>A	ENST00000406846.2	-	10	1479	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	FSHR_ENST00000541117.1_Nonsense_Mutation_p.E190*|FSHR_ENST00000346173.3_Nonsense_Mutation_p.E392*|FSHR_ENST00000304421.4_Nonsense_Mutation_p.E428*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	454					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.E454*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACTGACAGCTCACTGGCAAAG	0.512000									Gonadal Dysgenesis, 46 XX				10	86					0.000673444	0.000730879	1	1	0
EXO1	9156	broad.mit.edu	37	1	242016740	242016740	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:242016740G>C	ENST00000366548.3	+	6	955	c.362G>C	c.(361-363)cGg>cCg	p.R121P	EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.R121P|EXO1_ENST00000518483.1_Missense_Mutation_p.R121P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	121					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.R121P(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGTTTCACCCGGTCTATCAAT	0.438000								Editing and processing nucleases					40	184					0	0	1	0	0
SSR4	6748	broad.mit.edu	37	X	153062964	153062964	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:153062964G>T	ENST00000320857.3	+	4	1322	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	SSR4_ENST00000370085.3_Intron|SSR4_ENST00000370087.1_Missense_Mutation_p.G80C|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Missense_Mutation_p.G80C	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	80					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding	p.G80C(1)		central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCACTCGAGGCCAGGATGT	0.617000													11	96					1.08611e-07	1.40246e-07	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30928890	30928890	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:30928890T>A	ENST00000383096.3	-	8	603	c.421A>T	c.(421-423)Aca>Tca	p.T141S	CCDC178_ENST00000300227.8_Missense_Mutation_p.T141S|CCDC178_ENST00000583930.1_Missense_Mutation_p.T141S|CCDC178_ENST00000403303.1_Missense_Mutation_p.T141S|CCDC178_ENST00000402325.1_Missense_Mutation_p.T141S|CCDC178_ENST00000406524.2_Missense_Mutation_p.T141S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.T141S					coiled-coil domain containing 178									p.T141S(2)									TTCACTGGTGTAGTTACACTC	0.338000													11	53					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28761238	28761238	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:28761238T>A	ENST00000422425.2	+	10	685	c.641T>A	c.(640-642)cTg>cAg	p.L214Q	PLB1_ENST00000327757.5_Missense_Mutation_p.L203Q	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	203	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.L214Q(1)|p.L203Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGGACTACCTGCAGCAGGAG	0.652000													5	55					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72285878	72285878	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:72285878C>A	ENST00000263563.6	+	2	439	c.171C>A	c.(169-171)gcC>gcA	p.A57A		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A57E(1)									ACAAGGTGGCCCCTGTTGTGA	0.602000													19	77					0.00332997	0.00353279	1	1	0
PCBP4	57060	broad.mit.edu	37	3	51994299	51994299	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:51994299G>C	ENST00000461554.1	-	7	624	c.293C>G	c.(292-294)tCc>tGc	p.S98C	PCBP4_ENST00000428823.2_Missense_Mutation_p.S98C|PCBP4_ENST00000395013.3_Missense_Mutation_p.S21C|PCBP4_ENST00000484633.1_Missense_Mutation_p.S98C|PCBP4_ENST00000395014.2_Missense_Mutation_p.S64C|PCBP4_ENST00000355852.2_Missense_Mutation_p.S98C|PCBP4_ENST00000471622.1_Missense_Mutation_p.S98C|PCBP4_ENST00000322099.7_Missense_Mutation_p.S98C	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	98						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	p.S64C(1)|p.S98C(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGGAGGCCTGGAGACATTTCC	0.592000													14	67					0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113822701	113822701	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:113822701G>T	ENST00000280800.3	+	8	1195	c.1164G>T	c.(1162-1164)ccG>ccT	p.P388P	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	388					lipid catabolic process	lysosomal lumen	hydrolase activity	p.P388P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGTTCATCCCGGGTGGGCCCA	0.667000													3	61					0.115264	0.117124	1	1	0
FEZF1	389549	broad.mit.edu	37	7	121942191	121942191	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:121942191C>T	ENST00000442488.2	-	4	1355	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	FEZF1_ENST00000331178.4_Missense_Mutation_p.A426T|FEZF1_ENST00000427185.2_Missense_Mutation_p.A380T	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	430					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A426T(2)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGCGTGCGGGCCAGCCCCAGG	0.672000													10	154					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31168710	31168710	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:31168710C>A	ENST00000349752.5	-	7	1320	c.681G>T	c.(679-681)gtG>gtT	p.V227V	GALNT14_ENST00000420311.2_Silent_p.V192V|GALNT14_ENST00000356174.3_Silent_p.V194V|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Silent_p.V207V|GALNT14_ENST00000324589.5_Silent_p.V232V	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	227						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V227V(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGATATCGATCACAGGGCACA	0.562000													24	80					2.79863e-10	4.00784e-10	1	1	0
TAF1A	9015	broad.mit.edu	37	1	222757545	222757545	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:222757545T>A	ENST00000350027.4	-	3	369	c.216A>T	c.(214-216)caA>caT	p.Q72H	TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000352967.4_Missense_Mutation_p.Q72H|TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000543857.1_Missense_Mutation_p.Q72H	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	72					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.Q72H(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATTCTGCAGCTTGCTGCCATT	0.413000													34	310					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587229	204587229	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:204587229A>T	ENST00000367175.1	-	1	4104	c.1892T>A	c.(1891-1893)cTc>cAc	p.L631H	LRRN2_ENST00000367177.3_Missense_Mutation_p.L631H|LRRN2_ENST00000367176.3_Missense_Mutation_p.L631H			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	631					cell adhesion	integral to membrane	receptor activity	p.L631H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GATGGCAATGAGCCCAGGACG	0.632000													18	52					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137619238	137619238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137619238G>T	ENST00000371817.3	+	5	1195	c.781G>T	c.(781-783)Gaa>Taa	p.E261*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	261	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAATCCAGATGAATATGTGAG	0.517000													6	66					1	1	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247464362	247464362	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247464362C>A	ENST00000294753.4	-	9	1687	c.1223G>T	c.(1222-1224)tGt>tTt	p.C408F	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.C444F	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	408					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C408F(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACAGTTCGGACACACGTAGGA	0.662000													39	149					8.69298e-16	1.46033e-15	1	1	0
IREB2	3658	broad.mit.edu	37	15	78764260	78764260	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:78764260G>T	ENST00000258886.8	+	7	1026	c.877G>T	c.(877-879)Ggg>Tgg	p.G293W	IREB2_ENST00000560440.1_Missense_Mutation_p.G293W	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	293							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.G293W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGGGATTCTGGGGTGGGGTAA	0.373000													9	68					0.38729	0.388874	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84784945	84784945	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:84784945C>T	ENST00000389394.3	+	11	1826	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	DNAH6_ENST00000237449.6_Silent_p.F563F|DNAH6_ENST00000398278.2_Silent_p.F563F	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	563	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F142F(1)|p.F563F(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTGATGCTTTCACCAGCCCTT	0.373000													24	213					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577123	7577123	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:7577123A>C	ENST00000420246.2	-	8	947	c.815T>G	c.(814-816)gTg>gGg	p.V272G	TP53_ENST00000269305.4_Missense_Mutation_p.V272G|TP53_ENST00000455263.2_Missense_Mutation_p.V272G|TP53_ENST00000359597.4_Missense_Mutation_p.V272G|TP53_ENST00000445888.2_Missense_Mutation_p.V272G|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.V272E(8)|p.V272A(7)|p.V272G(6)|p.?(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271fs*73(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACAAACACGCACCTCAAAGCT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	32					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901357	129901357	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:129901357T>A	ENST00000368654.3	-	13	9122	c.8747A>T	c.(8746-8748)gAa>gTa	p.E2916V	MKI67_ENST00000368653.3_Missense_Mutation_p.E2556V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2916	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.E2916V(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCCAGATCTTCCAGGGGTTG	0.512000													10	235					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771324	143771324	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:143771324T>A	ENST00000408898.2	+	1	50	c.12T>A	c.(10-12)aaT>aaA	p.N4K		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N4K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGGGGGAAATCAGACTTCCA	0.443000													37	157					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908038	103908038	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:103908038G>T	ENST00000302259.3	+	1	731	c.488G>T	c.(487-489)cGc>cTc	p.R163L	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	163					proteolysis		aspartic-type endopeptidase activity	p.R163L(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCAAGGAACGCAACCCTCCC	0.612000													40	172					2.00842e-17	3.50332e-17	1	1	0
TTN	7273	broad.mit.edu	37	2	179590276	179590276	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179590276G>T	ENST00000589042.1	-	71	20879	c.20655C>A	c.(20653-20655)gtC>gtA	p.V6885V	TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.V6568V|TTN_ENST00000342992.6_Silent_p.V5641V|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6568	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V5641V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAGCCACTGGACAAAAATAG	0.433000													13	104					4.3838e-07	5.52985e-07	1	1	0
DBH	1621	broad.mit.edu	37	9	136501727	136501727	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:136501727G>T	ENST00000393056.2	+	1	246	c.234G>T	c.(232-234)gtG>gtT	p.V78V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	78	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.V78V(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGCTCCTGGTGCGGAGGCTCA	0.622000													8	59					0.000274275	0.000302072	1	1	0
DCC	1630	broad.mit.edu	37	18	50936982	50936982	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:50936982A>C	ENST00000442544.2	+	20	3712	c.3096A>C	c.(3094-3096)ccA>ccC	p.P1032P	DCC_ENST00000581580.1_Silent_p.P667P|DCC_ENST00000412726.1_Silent_p.P860P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1032	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P1032P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGTGGGGCCACTCTCTGATC	0.378000													8	142					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307027	162307027	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:162307027A>G	ENST00000306100.5	-	16	2852	c.2416T>C	c.(2416-2418)Ttt>Ctt	p.F806L	FSTL5_ENST00000379164.4_Missense_Mutation_p.F805L|FSTL5_ENST00000427802.2_Missense_Mutation_p.F796L|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.F805L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	806						extracellular region	calcium ion binding	p.F806L(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTGACCAAACAAGCCACTG	0.433000													33	227					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60328550	60328550	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:60328550G>T	ENST00000371208.3	+	16	1883		c.e16+1		HOOK1_ENST00000465876.1_Splice_Site|HOOK1_ENST00000395561.2_Splice_Site	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1						early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	p.?(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGGCGAAAGTGTAAGTAACTT	0.373000													11	114					0.000673444	0.000730879	1	1	0
PSMD11	5717	broad.mit.edu	37	17	30806346	30806346	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:30806346A>T	ENST00000261712.3	+	10	1253	c.990A>T	c.(988-990)ttA>ttT	p.L330F	PSMD11_ENST00000457654.2_Missense_Mutation_p.L330F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	330	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	p.L330F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			ATGATAACTTACTAGAACAGA	0.502000													26	225					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066046	73066046	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:73066046C>A	ENST00000429829.1	-	0	6542					NR_001564.2																						GATCAGCACCCCTGCTGTACT	0.483000													26	86					7.41945e-09	9.95747e-09	1	1	0
VPS45	11311	broad.mit.edu	37	1	150040772	150040772	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:150040772G>A	ENST00000369130.3	+	2	725	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	VPS45_ENST00000535106.1_Missense_Mutation_p.R60Q|VPS45_ENST00000369128.5_Missense_Mutation_p.R24Q	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	60					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		p.R60Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCAAAATCGAGAGATCATG	0.418000													17	240					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962824	69962824	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:69962824G>A	ENST00000305231.7	+	1	632	c.586G>A	c.(586-588)Gtt>Att	p.V196I	UGT2B7_ENST00000508661.1_Missense_Mutation_p.V196I|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	196					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.V196I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACGTACCTGTTGTTATGTC	0.363000													19	167					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76202119	76202119	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:76202119C>T	ENST00000409257.5	+	10	927	c.873C>T	c.(871-873)aaC>aaT	p.N291N	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000327898.5_Silent_p.N296N|AFMID_ENST00000591952.1_Intron	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	291						cytosol|nucleus	arylformamidase activity	p.N296N(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			AGAAGGACAACGTGCTCACCC	0.542000													22	59					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942030	77942030	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:77942030C>A	ENST00000393684.3	-	8	1751	c.1360G>T	c.(1360-1362)Gct>Tct	p.A454S	ISM2_ENST00000342219.4_Missense_Mutation_p.A542S|ISM2_ENST00000412904.1_Missense_Mutation_p.A461S|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.A461S			Q6H9L7	ISM2_HUMAN	isthmin 2	542	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGGAGCACAGCGTGGAGGCGG	0.617000													8	223					0.00307968	0.00327149	1	1	0
TSC2	7249	broad.mit.edu	37	16	2122925	2122925	+	Missense_Mutation	SNP	G	G	T	rs150672640	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:2122925G>T	ENST00000219476.3	+	21	2926	c.2296G>T	c.(2296-2298)Gtg>Ttg	p.V766L	TSC2_ENST00000401874.2_Missense_Mutation_p.V766L|TSC2_ENST00000439673.2_Missense_Mutation_p.V729L|TSC2_ENST00000382538.6_Missense_Mutation_p.V717L|TSC2_ENST00000350773.4_Missense_Mutation_p.V766L|TSC2_ENST00000353929.4_Missense_Mutation_p.V766L|TSC2_ENST00000568454.1_Missense_Mutation_p.V777L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	766					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCACCTGGCCGTGGTTCCAGT	0.547000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				18	143					1.56452e-12	2.42122e-12	1	1	0
PKD1	5310	broad.mit.edu	37	16	2168792	2168792	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:2168792T>A	ENST00000262304.4	-	4	622	c.414A>T	c.(412-414)cgA>cgT	p.R138R	PKD1_ENST00000423118.1_Silent_p.R138R	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	138	LRRCT.			R -> Q (in Ref. 1; AAC50128).	calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.R138R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTCCGCCCATCGCGGCAGCC	0.687000													8	29					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185507	56185507	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:56185507A>T	ENST00000312253.1	-	1	201	c.202T>A	c.(202-204)Ttt>Att	p.F68I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGGTCAACAAAGGCCAGGTGG	0.443000													15	77					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935448	30935448	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:30935448G>T	ENST00000355537.3	+	2	1126	c.979G>T	c.(979-981)Gag>Tag	p.E327*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E327*(1)		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)					CATCACGGCCGAGTCGGCCCA	0.657000													72	338					2.94884e-30	5.90248e-30	1	1	0
CENPE	1062	broad.mit.edu	37	4	104061453	104061453	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:104061453T>G	ENST00000265148.3	-	37	5962	c.5873A>C	c.(5872-5874)cAa>cCa	p.Q1958P	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1933P	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1958					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.Q1958P(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAAATCCTTTTGAATGTCTGA	0.284000													7	59					0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27016114	27016114	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27016114G>T	ENST00000335756.4	+	4	590	c.390G>T	c.(388-390)cgG>cgT	p.R130R	CENPA_ENST00000233505.8_Silent_p.R104R|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	130	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	p.R130R(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGGCCCGGAGGATCCGGG	0.552000													51	400					7.51862e-13	1.17466e-12	1	1	0
HN1L	90861	broad.mit.edu	37	16	1748976	1748976	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:1748976A>T	ENST00000248098.3	+	5	607	c.550A>T	c.(550-552)Aaa>Taa	p.K184*	HN1L_ENST00000562684.1_Nonsense_Mutation_p.K212*|HN1L_ENST00000382710.4_Nonsense_Mutation_p.K172*|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000382711.5_Nonsense_Mutation_p.K168*	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	184						cytoplasm|nucleus		p.K184*(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						ACCGGGAGGCAAATCCAGCAT	0.592000													65	167					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802371	237802371	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237802371G>A	ENST00000366574.2	+	46	7302	c.6985G>A	c.(6985-6987)Gag>Aag	p.E2329K	RYR2_ENST00000542537.1_Missense_Mutation_p.E2313K|RYR2_ENST00000360064.6_Missense_Mutation_p.E2327K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2329	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E2327K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGGAGGCCTGAGTGTTTTGG	0.468000													15	41					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5022022	5022022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:5022022C>A	ENST00000382545.3	+	2	2585	c.1478C>A	c.(1477-1479)aCc>aAc	p.T493N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	493					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.T493N(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGCTACTGACCGATGTTTAA	0.383000													49	197					6.20943e-19	1.1059e-18	1	1	0
TMEM231	79583	broad.mit.edu	37	16	75576504	75576504	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:75576504C>A	ENST00000398114.2	-	4	785	c.747G>T	c.(745-747)agG>agT	p.R249S	TMEM231_ENST00000569294.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA|RP11-77K12.7_ENST00000460606.1_Missense_Mutation_p.G52V|TMEM231_ENST00000565067.1_Missense_Mutation_p.R172S|TMEM231_ENST00000258173.6_Missense_Mutation_p.R220S	NM_001077416.1	NP_001070884.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	220						integral to membrane		p.R249S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACTCACCGTTCCTCTCCTGGT	0.542000													22	120					1.10923e-09	1.54262e-09	1	1	0
BCAN	63827	broad.mit.edu	37	1	156622600	156622600	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:156622600C>A	ENST00000329117.4	+	8	2194	c.1858C>A	c.(1858-1860)Cca>Aca	p.P620T	BCAN_ENST00000361588.5_Missense_Mutation_p.P620T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	620					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.P620T(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGAACTGCCCCAGCAGGGAC	0.652000													26	80					9.22233e-05	0.000104138	1	1	0
ASTN1	460	broad.mit.edu	37	1	176992707	176992707	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:176992707C>A	ENST00000367654.2	-	7	1284	c.1270_splice	c.e7-1	p.G424_splice	ASTN1_ENST00000367657.3_Splice_Site_p.G424_splice|ASTN1_ENST00000361833.2_Splice_Site_p.G424_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Splice_Site_p.G424_splice			O14525	ASTN1_HUMAN	astrotactin 1	424					cell migration|neuron cell-cell adhesion	integral to membrane		p.G424V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGCGGCTCCCTGCAGGGTG	0.552000													14	59					1.99824e-07	2.55608e-07	1	1	0
UGGT1	56886	broad.mit.edu	37	2	128873837	128873837	+	Splice_Site	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:128873837A>G	ENST00000375990.3	+	8	1124		c.e8-1		UGGT1_ENST00000259253.6_Splice_Site			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.?(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTTTCATAGGAACTGAGG	0.299000													11	107					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836101	247836101	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247836101G>T	ENST00000359688.2	-	1	264	c.243C>A	c.(241-243)acC>acA	p.T81T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGTTAGCATGGTCCCCAGCA	0.468000													21	75					2.4624e-09	3.38046e-09	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157508921	157508921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:157508921C>A	ENST00000361835.3	-	7	1514	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	FCRL5_ENST00000368189.3_Missense_Mutation_p.G453C|FCRL5_ENST00000368190.3_Missense_Mutation_p.G453C|FCRL5_ENST00000356953.4_Missense_Mutation_p.G453C|FCRL5_ENST00000368191.3_Missense_Mutation_p.G368C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	453	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.G453C(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGCCAAAGCCATTGTCAGCT	0.597000													12	103					2.68435e-20	4.90169e-20	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1242871	1242871	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:1242871T>C	ENST00000324642.3	+	8	1147	c.1024T>C	c.(1024-1026)Tcc>Ccc	p.S342P	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	342					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S342P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCAGAGCATCTCCAGGGACGA	0.597000													20	179					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12322047	12322047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:12322047C>T	ENST00000358136.3	+	13	1634	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q502*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	502					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTGAATTTGCAGTTGCAGCG	0.453000													4	207					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337364	33337364	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:33337364C>A	ENST00000374796.2	-	10	5204	c.2634G>T	c.(2632-2634)aaG>aaT	p.K878N	NCOA6_ENST00000359003.2_Missense_Mutation_p.K878N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	878	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.K878N(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCGTGACATCCTTATTGACTG	0.448000													20	159					5.03518e-11	7.44516e-11	1	1	0
FBXO11	80204	broad.mit.edu	37	2	48059590	48059590	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:48059590C>A	ENST00000403359.3	-	11	1368	c.1296G>T	c.(1294-1296)gcG>gcT	p.A432A	FBXO11_ENST00000402508.1_Silent_p.A348A|FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000316377.4_Silent_p.A348A	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	432					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.A348A(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCCAGCTAACGCATTATTGG	0.328000			"""Mis, F, D"""		DLBCL								8	72					5.4927e-09	7.43255e-09	1	1	0
LINGO1	84894	broad.mit.edu	37	15	77907381	77907381	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:77907381G>T	ENST00000355300.6	-	2	1042	c.868C>A	c.(868-870)Cgc>Agc	p.R290S	LINGO1_ENST00000561030.1_Missense_Mutation_p.R284S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	290					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.R284C(1)|p.R284S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGAGGAAGCGGAGATAGACT	0.607000													13	80					0.0135373	0.014076	1	1	0
ARHGEF3	50650	broad.mit.edu	37	3	56779328	56779328	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:56779328G>A	ENST00000413728.2	-	7	1336	c.793C>T	c.(793-795)Cca>Tca	p.P265S	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.P265S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.P230S|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.P259S|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.P259S|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.P291S	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	259	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.P259S(2)|p.P291S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CGGCTTCTTGGAATATCGAGG	0.463000													81	238					0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34266291	34266291	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:34266291G>T	ENST00000585556.1	-	2	404	c.70C>A	c.(70-72)Cgc>Agc	p.R24S	LYZL6_ENST00000394523.3_Missense_Mutation_p.R24S|LYZL6_ENST00000293274.4_Missense_Mutation_p.R24S			O75951	LYZL6_HUMAN	lysozyme-like 6	24					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.R24S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGTCACAGCGACTGATGAGG	0.567000													88	132					2.60632e-51	5.4898e-51	1	1	0
MUSK	4593	broad.mit.edu	37	9	113562997	113562997	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:113562997C>T	ENST00000416899.2	+	13	2441	c.2315C>T	c.(2314-2316)aCt>aTt	p.T772I	MUSK_ENST00000189978.5_Missense_Mutation_p.T780I|MUSK_ENST00000374448.4_Missense_Mutation_p.T780I			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	780	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.T780I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AACCGCTACACTACAGAGTCT	0.498000													13	128					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125504945	125504945	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:125504945C>A	ENST00000431078.1	+	14	2578	c.2214C>A	c.(2212-2214)gaC>gaA	p.D738E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	738	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.D738E(1)		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)		GCAATTGCGACGCTGACAAGG	0.483000													31	285					3.90053e-15	6.47714e-15	1	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196348	118196348	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:118196348T>C	ENST00000369230.3	+	2	321	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	59					lipid catabolic process	extracellular region	triglyceride lipase activity	p.Y59H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCCTGCTCTACACTATACA	0.408000													17	151					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2883689	2883689	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:2883689G>T	ENST00000355842.3	+	4	1123	c.260G>T	c.(259-261)gGc>gTc	p.G87V	ADD1_ENST00000446856.1_Missense_Mutation_p.G87V|ADD1_ENST00000513328.2_Missense_Mutation_p.G87V|ADD1_ENST00000398125.1_Missense_Mutation_p.G87V|ADD1_ENST00000398123.2_Missense_Mutation_p.G87V|ADD1_ENST00000503455.2_Missense_Mutation_p.G87V|ADD1_ENST00000398129.1_Missense_Mutation_p.G87V|ADD1_ENST00000264758.7_Missense_Mutation_p.G87V			P35611	ADDA_HUMAN	adducin 1 (alpha)	87					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.G87F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACCCCACAGGCCTATTGGCA	0.408000													17	148					3.41278e-10	4.8703e-10	1	1	0
TRIM15	89870	broad.mit.edu	37	6	30131749	30131749	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:30131749C>G	ENST00000376694.4	+	1	757	c.288C>G	c.(286-288)aaC>aaG	p.N96K	TRIM15_ENST00000376688.1_Missense_Mutation_p.N96K	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	96					mesodermal cell fate determination	intracellular	zinc ion binding	p.N96K(1)		large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCTGCGAGAACGATGCCGAGT	0.622000													10	108					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100613310	100613310	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:100613310G>T	ENST00000308731.7	-	12	1253	c.1090C>A	c.(1090-1092)Cac>Aac	p.H364N	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	364	SH2.		H -> P (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.H364N(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCAGAGTTGTGCTGATGGTAG	0.488000									Agammaglobulinemia, X-linked				24	161					3.85864e-22	7.17398e-22	1	1	0
ELAC2	60528	broad.mit.edu	37	17	12915089	12915089	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:12915089C>A	ENST00000338034.4	-	7	809	c.570G>T	c.(568-570)agG>agT	p.R190S	ELAC2_ENST00000578071.1_5'UTR|ELAC2_ENST00000426905.3_Intron|ELAC2_ENST00000395962.2_Missense_Mutation_p.R171S	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	190					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	p.R190S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GCTTTCCCCTCCTCTGTTCAC	0.532000													10	107					2.17888e-05	2.53377e-05	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143003333	143003333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:143003333G>T	ENST00000513000.1	-	26	2926	c.2493C>A	c.(2491-2493)tgC>tgA	p.C831*	INPP4B_ENST00000508116.1_Nonsense_Mutation_p.C831*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.C831*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.C831*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.C831*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	831					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.C831_R832>*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCAGTTTGCGGCAAATCTGTA	0.398000													14	117					3.27435e-08	4.30043e-08	1	1	0
WDR17	116966	broad.mit.edu	37	4	177067216	177067216	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:177067216C>A	ENST00000393643.2	+	12	1852	c.1600C>A	c.(1600-1602)Cca>Aca	p.P534T	WDR17_ENST00000280190.4_Missense_Mutation_p.P558T|WDR17_ENST00000507824.2_Missense_Mutation_p.P541T|WDR17_ENST00000508596.1_Missense_Mutation_p.P534T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	558								p.P558T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCAGATCAACCATTGAAAGT	0.393000													20	126					2.4624e-09	3.38046e-09	1	1	0
TSPAN19	144448	broad.mit.edu	37	12	85421778	85421778	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:85421778G>T	ENST00000532498.2	-	4	243	c.163C>A	c.(163-165)Cct>Act	p.P55T	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	55						integral to membrane				ovary(1)	1						TGAGAAATAGGTACTATGAAG	0.274000													6	43					3.59834e-05	4.14518e-05	1	1	0
C12orf71	728858	broad.mit.edu	37	12	27234183	27234183	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:27234183G>T	ENST00000429849.2	-	2	764	c.734C>A	c.(733-735)gCa>gAa	p.A245E		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	245								p.A245E(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TTTCGTTGGTGCTGACCGATG	0.478000													38	122					5.71845e-15	9.47034e-15	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60892796	60892796	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:60892796C>A	ENST00000252999.3	-	54	7344	c.7278G>T	c.(7276-7278)ctG>ctT	p.L2426L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2426	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L2426L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTGGCCTGCAGGGTGGCAT	0.587000													8	28					5.18039e-06	6.22154e-06	1	1	0
FRY	10129	broad.mit.edu	37	13	32783213	32783213	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:32783213G>T	ENST00000380250.3	+	32	4738	c.4242G>T	c.(4240-4242)ctG>ctT	p.L1414L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.L1414L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACGTCACTGGTCCTGAACA	0.532000													15	183					2.94398e-08	3.88106e-08	1	1	0
CCDC178	374864	broad.mit.edu	37	18	30950110	30950110	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:30950110G>A	ENST00000383096.3	-	6	434	c.252C>T	c.(250-252)caC>caT	p.H84H	CCDC178_ENST00000300227.8_Silent_p.H84H|CCDC178_ENST00000583930.1_Silent_p.H84H|CCDC178_ENST00000403303.1_Silent_p.H84H|CCDC178_ENST00000402325.1_Silent_p.H84H|CCDC178_ENST00000406524.2_Silent_p.H84H|CCDC178_ENST00000579916.1_Silent_p.H84H|CCDC178_ENST00000579947.1_Silent_p.H84H					coiled-coil domain containing 178																		CGGCACAGCTGTGACGTCGAC	0.368000													5	70					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30021412	30021412	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30021412C>T	ENST00000350119.4	-	2	322	c.132G>A	c.(130-132)ggG>ggA	p.G44G	DOC2A_ENST00000564944.1_Silent_p.G44G|DOC2A_ENST00000564979.1_Silent_p.G44G	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	44	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	p.G44G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ccccgccgcccccTTCAGGTC	0.721000													15	59					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2883688	2883688	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:2883688G>T	ENST00000355842.3	+	4	1122	c.259G>T	c.(259-261)Ggc>Tgc	p.G87C	ADD1_ENST00000446856.1_Missense_Mutation_p.G87C|ADD1_ENST00000513328.2_Missense_Mutation_p.G87C|ADD1_ENST00000398125.1_Missense_Mutation_p.G87C|ADD1_ENST00000398123.2_Missense_Mutation_p.G87C|ADD1_ENST00000503455.2_Missense_Mutation_p.G87C|ADD1_ENST00000398129.1_Missense_Mutation_p.G87C|ADD1_ENST00000264758.7_Missense_Mutation_p.G87C			P35611	ADDA_HUMAN	adducin 1 (alpha)	87					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.G87F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAACCCCACAGGCCTATTGGC	0.408000													16	144					4.7546e-09	6.46226e-09	1	1	0
INPP4A	3631	broad.mit.edu	37	2	99169339	99169339	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:99169339C>T	ENST00000074304.5	+	15	1662	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	INPP4A_ENST00000409016.3_Silent_p.T423T|INPP4A_ENST00000409540.3_Silent_p.T423T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Silent_p.T423T|INPP4A_ENST00000409851.3_Silent_p.T418T|INPP4A_ENST00000523221.1_Silent_p.T423T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	423					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.T423T(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCCTGAAAACCCAAGTGAGTT	0.537000													4	41					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383973	108383973	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:108383973T>C	ENST00000265843.4	-	6	2371	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	EXPH5_ENST00000443411.1_Missense_Mutation_p.N566S|EXPH5_ENST00000525344.1_Missense_Mutation_p.N747S|EXPH5_ENST00000428840.1_Missense_Mutation_p.N678S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	754					intracellular protein transport		Rab GTPase binding	p.N754S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACCAAACCCGTTGCTCTTGGC	0.413000													60	183					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308560	20308560	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:20308560G>A	ENST00000335117.8	+	4	1098	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E341E(1)|p.E347E(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATACGGGAGAGAAACCCTACA	0.403000													13	99					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584301	8584301	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:8584301C>A	ENST00000382487.4	+	2	1129	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	238					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R238S(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCGCCGCCACCGCGCCACCAG	0.627000													39	157					2.51966e-14	4.09278e-14	1	1	0
PDIA6	10130	broad.mit.edu	37	2	10929942	10929942	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:10929942C>T	ENST00000404371.2	-	10	1266	c.929G>A	c.(928-930)aGa>aAa	p.R310K	PDIA6_ENST00000381611.4_Missense_Mutation_p.R263K|PDIA6_ENST00000272227.3_Missense_Mutation_p.R258K|PDIA6_ENST00000540494.1_Missense_Mutation_p.R255K|PDIA6_ENST00000404824.2_Missense_Mutation_p.R306K			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	258					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R258K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GATGTCGGATCTTGTCCGCCC	0.453000													26	163					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40037036	40037036	+	Missense_Mutation	SNP	A	A	T	rs59635914		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:40037036A>T	ENST00000336649.4	+	8	905	c.905A>T	c.(904-906)gAc>gTc	p.D302V	CACNA1I_ENST00000407673.1_Missense_Mutation_p.D302V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D302V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D302V|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D302V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D302V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	302					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.D302V(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GACGTCTACGACTTTGGGGCG	0.632000													18	161					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33646533	33646533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:33646533G>T	ENST00000374316.5	+	31	4949	c.3889G>T	c.(3889-3891)Gtg>Ttg	p.V1297L	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1297L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1297					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.V1297L(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGGGCGCCATGTGCAGTACCT	0.582000													19	53					1.78486e-19	3.2091e-19	1	1	0
ACE	1636	broad.mit.edu	37	17	61568643	61568643	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:61568643C>G	ENST00000577647.1	+	8	1136	c.1091C>G	c.(1090-1092)cCt>cGt	p.P364R	ACE_ENST00000421982.2_Missense_Mutation_p.P184R|ACE_ENST00000290866.4_Missense_Mutation_p.P938R|ACE_ENST00000413513.3_Missense_Mutation_p.P364R|ACE_ENST00000290863.6_Missense_Mutation_p.P364R|ACE_ENST00000428043.1_Missense_Mutation_p.P938R|ACE_ENST00000490216.2_Missense_Mutation_p.P364R			P12821	ACE_HUMAN	angiotensin I converting enzyme	938	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.P364R(1)|p.P938R(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCGTGCCTCCTGAGTTCTGG	0.612000													16	158					0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334305	39334305	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39334305G>T	ENST00000377726.2	-	1	155	c.112C>A	c.(112-114)Ccc>Acc	p.P38T		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	38	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCAGCTGGGGCGGCAGCAG	0.657000													8	262					5.18039e-06	6.22154e-06	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47942094	47942094	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:47942094G>C	ENST00000289672.2	-	13	1996	c.1946C>G	c.(1945-1947)aCa>aGa	p.T649R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	649	PKD 2.				cell-cell adhesion	integral to membrane		p.T649R(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GACCTCCACTGTAAATTCTCC	0.473000													21	92					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886814	57886814	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57886814A>G	ENST00000302610.1	-	1	102	c.103T>C	c.(103-105)Tac>Cac	p.Y35H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y35H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTGACTAGGTAGAAACTCAGA	0.453000													16	89					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714264	183714264	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:183714264A>T	ENST00000511685.1	+	26	6562	c.6439A>T	c.(6439-6441)Ata>Tta	p.I2147L	TENM3_ENST00000406950.2_Missense_Mutation_p.I2147L					teneurin transmembrane protein 3									p.I2147L(1)									CAATGAAAAGATAATGTGGCG	0.443000													20	154					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240009282	240009282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:240009282C>A	ENST00000345617.3	-	19	3193	c.2402G>T	c.(2401-2403)gGa>gTa	p.G801V	HDAC4_ENST00000543185.1_Missense_Mutation_p.G385V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	801	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGCATGGTGTCCAGGGGGGCG	0.607000													5	53					0.00198382	0.00211837	1	1	0
NUDT9	53343	broad.mit.edu	37	4	88363024	88363024	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:88363024G>T	ENST00000473942.1	+	4	459	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000302174.4_Missense_Mutation_p.G163W	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	163						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GGGGCTTTTGGGGCGATGGGG	0.423000													7	21					0.00448238	0.0047329	1	1	0
ACOT12	134526	broad.mit.edu	37	5	80655832	80655832	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:80655832A>G	ENST00000307624.3	-	5	414	c.386T>C	c.(385-387)cTa>cCa	p.L129P	ACOT12_ENST00000513751.1_Missense_Mutation_p.L129P	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	129					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.L129P(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTGTTCAGTTAGAAGTGTGAC	0.318000													18	80					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106773888	106773888	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:106773888G>C	ENST00000228347.4	+	9	916	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	POLR3B_ENST00000539066.1_Missense_Mutation_p.E174Q	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	232					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TACTTTGTCAGAAGATATACC	0.333000													5	72					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96081748	96081748	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:96081748T>A	ENST00000260766.3	+	30	7067	c.6433T>A	c.(6433-6435)Tct>Act	p.S2145T	NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371380.2_Missense_Mutation_p.S2145T|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1837T|PLCE1_ENST00000371375.1_Missense_Mutation_p.S1837T	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2145	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.S1837T(1)|p.S2145T(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATGATGTTTCTCCAGAGCA	0.463000													16	72					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38899416	38899416	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:38899416G>T	ENST00000252530.5	+	8	963	c.944G>T	c.(943-945)cGg>cTg	p.R315L	FAM98C_ENST00000588262.1_Silent_p.P181P|FAM98C_ENST00000343358.7_Missense_Mutation_p.R233L	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562000													41	120					2.20914e-33	4.5101e-33	1	1	0
ZNF862	643641	broad.mit.edu	37	7	149557754	149557754	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:149557754G>T	ENST00000223210.4	+	7	1750	c.1505G>T	c.(1504-1506)cGg>cTg	p.R502L		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.R502L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAATCATCTCGGTTAGTCAGA	0.448000													19	160					1.37657e-19	2.48774e-19	1	1	0
TBX10	347853	broad.mit.edu	37	11	67402363	67402363	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:67402363T>C	ENST00000335385.3	-	3	388	c.301A>G	c.(301-303)Aag>Gag	p.K101E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	101			K -> T (in dbSNP:rs3758938).		anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K101E(1)		endometrium(2)|lung(4)|ovary(1)	7						CCCAGGATCTTCACCTGGAAG	0.672000													20	112					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248658	94248658	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:94248658T>A	ENST00000515393.1	-	9	1373	c.1374A>T	c.(1372-1374)ctA>ctT	p.L458L	MCTP1_ENST00000505078.1_5'UTR|MCTP1_ENST00000505208.1_Silent_p.L237L|MCTP1_ENST00000429576.2_Silent_p.L191L|MCTP1_ENST00000312216.8_Silent_p.L237L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	458	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.L458L(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTAGGTCTGATAGGCGTAAAC	0.428000													29	277					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22899246	22899246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:22899246G>A	ENST00000543184.1	-	2	869	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PRAME_ENST00000406503.1_Nonsense_Mutation_p.R3*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.R3*|PRAME_ENST00000398741.1_Nonsense_Mutation_p.R3*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.R3*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.R3*	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	3					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.R3*(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AAACGCCTTCGTTCCATTTTG	0.532000													45	263					0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33881003	33881003	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:33881003G>C	ENST00000257818.2	-	6	1412	c.583C>G	c.(583-585)Cag>Gag	p.Q195E	LMO2_ENST00000395833.3_Missense_Mutation_p.Q126E	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	126					multicellular organismal development	nucleus	protein binding|zinc ion binding	p.Q126E(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						AAATGCTTCTGACAGGCGGCG	0.468000			T	TRD@	T-ALL								7	87					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56468774	56468774	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:56468774C>A	ENST00000370754.5	-	39	10552	c.10553G>T	c.(10552-10554)gGa>gTa	p.G3518V	DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Missense_Mutation_p.G3340V|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.G3014V|DST_ENST00000370769.4_Missense_Mutation_p.G3340V|DST_ENST00000312431.6_Missense_Mutation_p.G3340V|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3340					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTTTCTAGTCCAATTTCTTT	0.378000													5	49					0.217242	0.218667	1	1	0
ARL2	402	broad.mit.edu	37	11	64789247	64789247	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:64789247G>A	ENST00000246747.4	+	5	570	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ARL2_ENST00000533729.1_Missense_Mutation_p.A132T|ARL2_ENST00000529384.1_Missense_Mutation_p.A159T|SNX15_ENST00000301886.3_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	159					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	p.A159T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGGCTGCAGCGCCGTCACCGG	0.627000													7	55					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156991421	156991421	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:156991421C>G	ENST00000257527.4	-	3	289	c.211G>C	c.(211-213)Gct>Cct	p.A71P	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Missense_Mutation_p.A71P|ADAM19_ENST00000394020.1_Missense_Mutation_p.A73P	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	71					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.A72P(1)|p.A71P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCCCCTCAGCCATTACCCTG	0.498000													19	89					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20362003	20362003	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20362003G>A	ENST00000396134.2	-	2	180	c.57C>T	c.(55-57)atC>atT	p.I19I	UMOD_ENST00000570689.1_Silent_p.I19I|UMOD_ENST00000302509.4_Silent_p.I19I|UMOD_ENST00000396142.2_Silent_p.I19I|UMOD_ENST00000396138.4_Silent_p.I68I|UMOD_ENST00000424589.1_Silent_p.I19I	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	19					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.I19I(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTGCAGTTGTGATGAACCAAG	0.512000													31	84					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87677997	87677997	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:87677997C>T	ENST00000284262.2	+	2	758	c.516C>T	c.(514-516)acC>acT	p.T172T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	172					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.T172T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCGAGCACACCAACGGCACGG	0.721000													28	167					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22237202	22237202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:22237202C>A	ENST00000379374.4	+	17	2315	c.1750C>A	c.(1750-1752)Cat>Aat	p.H584N	PHEX_ENST00000537599.1_Missense_Mutation_p.H584N|PHEX_ENST00000535894.1_Missense_Mutation_p.H487N|PHEX_ENST00000418858.3_Missense_Mutation_p.H287N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	584					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.H584N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAATTTACACATGGATTTGA	0.318000													23	64					1.42536e-11	2.13196e-11	1	1	0
OTOL1	131149	broad.mit.edu	37	3	161221245	161221245	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:161221245G>C	ENST00000327928.4	+	4	949	c.949G>C	c.(949-951)Ggg>Cgg	p.G317R		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	317	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGCAACAAAGGGGTCCGAGG	0.582000													4	51					0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138439794	138439794	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:138439794C>A	ENST00000539850.1	+	4	381	c.355C>A	c.(355-357)Cgt>Agt	p.R119S	OBP2A_ENST00000371776.1_Missense_Mutation_p.R119S|OBP2A_ENST00000342114.4_Missense_Mutation_p.P74Q|OBP2A_ENST00000340780.3_Missense_Mutation_p.R119S			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	119					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AGACCAGCGCCGTGGGGGCCT	0.612000													6	86					3.35478e-16	5.69801e-16	1	1	0
VAT1L	57687	broad.mit.edu	37	16	77896678	77896678	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:77896678C>G	ENST00000302536.2	+	4	766	c.613C>G	c.(613-615)Ccc>Gcc	p.P205A	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	205							oxidoreductase activity|zinc ion binding	p.P205A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCCACTGTCCCCAACGTGAC	0.488000													24	157					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55140699	55140699	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:55140699C>T	ENST00000257290.5	+	11	1891	c.1558_splice	c.e11-1	p.T520_splice	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	520					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.T520T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTCACGTAGCCCTGCGTTCTG	0.507000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			24	132					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80046856	80046856	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:80046856C>A	ENST00000306749.2	-	14	2511	c.2293G>T	c.(2293-2295)Gcc>Tcc	p.A765S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	765	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGCAGCAGGGCGTGGGGCGCG	0.701000													3	48					0.115264	0.117124	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55924961	55924961	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:55924961C>A	ENST00000244728.5	-	28	2860	c.2463G>T	c.(2461-2463)ctG>ctT	p.L821L	COL21A1_ENST00000535941.1_Silent_p.L821L|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Intron|COL21A1_ENST00000370819.1_Silent_p.L818L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	821			L -> P (in dbSNP:rs12209452).		cell adhesion	collagen|cytoplasm	structural molecule activity	p.L821L(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATGTTGGGACAGGCAATGAT	0.498000													15	51					7.93312e-07	9.82539e-07	1	1	0
CACHD1	57685	broad.mit.edu	37	1	65157120	65157120	+	Missense_Mutation	SNP	C	C	A	rs72673394	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:65157120C>A	ENST00000371073.2	+	27	3701	c.3701C>A	c.(3700-3702)cCc>cAc	p.P1234H	CACHD1_ENST00000290039.5_Missense_Mutation_p.P1183H|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1234					calcium ion transport	integral to membrane		p.P1183H(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGGATACCCCCCCTCAGACT	0.552000													21	170					5.26018e-13	8.28672e-13	1	1	0
MPO	4353	broad.mit.edu	37	17	56357346	56357346	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:56357346G>C	ENST00000340482.3	-	3	454	c.278C>G	c.(277-279)gCc>gGc	p.A93G	MPO_ENST00000225275.3_Missense_Mutation_p.A93G			P05164	PERM_HUMAN	myeloperoxidase	93					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.A93G(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CATGGGGCTGGCTGAGCCGCT	0.642000													44	74					0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54350313	54350313	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:54350313G>C	ENST00000243103.3	+	2	908	c.812G>C	c.(811-813)aGa>aCa	p.R271T		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	271					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R271T(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AAAAAGAAAAGACTTCTGTTG	0.542000													10	264					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67816660	67816660	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:67816660C>T	ENST00000262345.1	+	9	1786	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	IL12RB2_ENST00000541374.1_Silent_p.S382S|IL12RB2_ENST00000544434.1_Silent_p.S382S|IL12RB2_ENST00000371000.1_Silent_p.S382S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	382	Fibronectin type-III 3.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.S382S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GACACACCTCCTGGACCACAG	0.493000													12	176					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764096	77764096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:77764096C>A	ENST00000521891.2	+	10	5387	c.4939C>A	c.(4939-4941)Cag>Aag	p.Q1647K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1602K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1621K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1602K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1602	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1647K(1)		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)			CAGCCCTGGCCAGGGGATGTT	0.473000										HNSCC(33;0.089)			16	105					4.7546e-09	6.46226e-09	1	1	0
CWC22	57703	broad.mit.edu	37	2	180835545	180835545	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:180835545C>T	ENST00000410053.3	-	10	1278	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	CWC22_ENST00000295749.6_Missense_Mutation_p.E327K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	327	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTGTCAATTTCAGACTCATGC	0.318000													8	126					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997103	40997103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:40997103G>T	ENST00000253799.3	+	1	487	c.460G>T	c.(460-462)Gag>Tag	p.E154*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.E154*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	154					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.E154*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGTGACTGTGGAGCGTCACGG	0.617000													50	99					2.22609e-26	4.30833e-26	1	1	0
CORIN	10699	broad.mit.edu	37	4	47667122	47667122	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:47667122G>T	ENST00000273857.4	-	11	1515	c.1516C>A	c.(1516-1518)Ctc>Atc	p.L506I	CORIN_ENST00000502252.1_Missense_Mutation_p.L439I|CORIN_ENST00000508498.1_Missense_Mutation_p.L367I|CORIN_ENST00000504584.1_Missense_Mutation_p.L469I|CORIN_ENST00000505909.1_Missense_Mutation_p.L469I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	506	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.L506I(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAACATGAGGTATTTATAA	0.423000													18	109					2.48551e-13	3.93325e-13	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29604452	29604452	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29604452G>C	ENST00000318184.5	-	22	2580	c.2581C>G	c.(2581-2583)Cca>Gca	p.P861A	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	861	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGATACCGTGGTGTGGGAAAA	0.433000													4	65					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000059	47000059	+	Silent	SNP	G	G	T	rs138975211		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:47000059G>T	ENST00000374314.4	+	1	2134	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	GPRIN2_ENST00000374317.1_Silent_p.V393V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	393								p.V393V(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CATGGGAGGTGTACGGAGCTG	0.642000													15	152					1.99824e-07	2.55608e-07	1	1	0
LYZL6	57151	broad.mit.edu	37	17	34263782	34263782	+	Silent	SNP	G	G	A	rs148658809		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:34263782G>A	ENST00000585556.1	-	4	688	c.354C>T	c.(352-354)tcC>tcT	p.S118S	LYZL6_ENST00000394523.3_Silent_p.S118S|LYZL6_ENST00000293274.4_Silent_p.S118S			O75951	LYZL6_HUMAN	lysozyme-like 6	118					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.S118S(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCGTGCTCCGGACACAATCC	0.567000													114	160					0	0	1	0	0
HOXD11	3237	broad.mit.edu	37	2	176972316	176972316	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:176972316G>T	ENST00000249504.5	+	1	303	c.233G>T	c.(232-234)gGc>gTc	p.G78V	HOXD11_ENST00000498438.1_Intron	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TACCgcggcggcggcggcggc	0.801000			T	NUP98	AML								4	23					0.00909568	0.00946969	1	1	0
MT-CO1	4512	broad.mit.edu	37	MT	5979	5979	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrM:5979G>C	ENST00000361624.2	+	1	76	c.76G>C	c.(76-78)Gct>Cct	p.26_26insP						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCGGCGCATGAGCTGGAGTCC	0.502000													11	8					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941553	130941553	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:130941553G>A	ENST00000538431.1	-	8	1180	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CIZ1_ENST00000372954.1_Silent_p.F287F|CIZ1_ENST00000372948.3_Silent_p.F311F|CIZ1_ENST00000357558.5_Silent_p.F311F|CIZ1_ENST00000325721.8_Silent_p.F282F|CIZ1_ENST00000277465.4_Silent_p.F311F|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000541172.1_Silent_p.F210F|CIZ1_ENST00000393608.1_Silent_p.F311F|CIZ1_ENST00000372938.5_Silent_p.F311F	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	311	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding	p.F311F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CCCGTGGCTGGAATCGTGGCA	0.632000													23	213					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807008	22807008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:22807008C>A	ENST00000361524.3	-	4	1022	c.874G>T	c.(874-876)Gag>Tag	p.E292*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E72*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E292*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	292					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.E292*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGGTCTCCTCTACGAAGAGC	0.537000			T	PAX5	ALL								15	123					2.62699e-14	4.25586e-14	1	1	0
PPP2R2B	5521	broad.mit.edu	37	5	146257616	146257616	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:146257616T>C	ENST00000394413.3	-	1	589	c.19A>G	c.(19-21)Acc>Gcc	p.T7A	PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.T65A|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.T7A|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.T7A|PPP2R2B_ENST00000508545.2_Intron|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.T7A|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.T73A			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	7					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.T7A(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTTGCGGGTATCAATGTCC	0.597000													9	91					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849037	131849037	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:131849037C>A	ENST00000359827.3	-	24	5326	c.4364G>T	c.(4363-4365)gGg>gTg	p.G1455V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1455V			Q9HCM2	PLXA4_HUMAN	plexin A4	1455						integral to membrane|intracellular|plasma membrane		p.G1455V(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGGGGCTCCCCAGCACACTC	0.597000													9	72					1.33987e-11	2.00899e-11	1	1	0
CD93	22918	broad.mit.edu	37	20	23066266	23066266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:23066266G>T	ENST00000246006.4	-	1	711	c.564C>A	c.(562-564)tgC>tgA	p.C188*		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	188					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.C188*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGAGGCCGGCACATGCCTT	0.652000													35	120					1.08052e-11	1.62111e-11	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55139722	55139722	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:55139722C>G	ENST00000257290.5	+	10	1714	c.1383C>G	c.(1381-1383)tcC>tcG	p.S461S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	461	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.S461S(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGAAACTTCCTGGACTATTT	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			17	117					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													9	63					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24738646	24738646	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:24738646C>T	ENST00000545231.1	-	12	2148	c.998G>A	c.(997-999)tGa>tAa	p.*333*	DFNA5_ENST00000409970.1_Silent_p.*333*|DFNA5_ENST00000342947.3_Silent_p.*497*|DFNA5_ENST00000409775.3_Silent_p.*497*|DFNA5_ENST00000419307.1_Silent_p.*333*			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	0					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CATATGACATCATGAATGTTC	0.388000													7	46					0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6147562	6147562	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:6147562G>T	ENST00000164247.1	+	8	926	c.362G>T	c.(361-363)tGg>tTg	p.W121L	KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Missense_Mutation_p.W107L|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378083.3_Missense_Mutation_p.W154L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.W121L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.W121L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.W54L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.W121L|KCNAB2_ENST00000352527.1_Missense_Mutation_p.W107L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	121						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.W121L(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AAGATCTTCTGGGGCGGAAAG	0.642000													36	133					1.61572e-30	3.23936e-30	1	1	0
AGMO	392636	broad.mit.edu	37	7	15425104	15425104	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:15425104C>A	ENST00000342526.3	-	10	1210	c.1041G>T	c.(1039-1041)ttG>ttT	p.L347F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	347					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.L347F(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CATAAAATGCCAACATCAGAG	0.358000													27	147					1.1804e-14	1.93917e-14	1	1	0
ANO6	196527	broad.mit.edu	37	12	45771878	45771878	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:45771878G>T	ENST00000320560.8	+	10	1349	c.1147G>T	c.(1147-1149)Gta>Tta	p.V383L	ANO6_ENST00000425752.2_Missense_Mutation_p.V383L|ANO6_ENST00000435642.1_Missense_Mutation_p.V383L|ANO6_ENST00000441606.2_Missense_Mutation_p.V365L|ANO6_ENST00000423947.3_Missense_Mutation_p.V404L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	383					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.V383L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGTCTTTGCAGTATTTATGGG	0.323000													22	151					1.68575e-08	2.23554e-08	1	1	0
NBEA	26960	broad.mit.edu	37	13	35731234	35731234	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:35731234G>T	ENST00000540320.1	+	21	3205	c.2671G>T	c.(2671-2673)Gtg>Ttg	p.V891L	NBEA_ENST00000379939.2_Missense_Mutation_p.V891L|NBEA_ENST00000310336.4_Missense_Mutation_p.V891L|NBEA_ENST00000400445.3_Missense_Mutation_p.V891L			Q8NFP9	NBEA_HUMAN	neurobeachin	891						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGTGTTCAGTGTGGCAGGA	0.303000													11	281					1.5842e-08	2.10769e-08	1	1	0
DYRK3	8444	broad.mit.edu	37	1	206821658	206821658	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:206821658C>G	ENST00000367106.1	+	4	1528	c.1055C>G	c.(1054-1056)tCt>tGt	p.S352C	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.S352C|DYRK3_ENST00000367109.2_Missense_Mutation_p.S372C			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	372	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S372C(1)|p.S337C(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATATCCAGTCTCGGTTCTAC	0.463000													31	190					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819932	25819932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:25819932C>A	ENST00000244527.4	-	4	534	c.419G>T	c.(418-420)cGa>cTa	p.R140L	SLC17A1_ENST00000427328.1_Missense_Mutation_p.R140L|SLC17A1_ENST00000476801.1_Missense_Mutation_p.R140L|SLC17A1_ENST00000468082.1_Missense_Mutation_p.R140L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	140					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTGAACTGCTCGACATACAAC	0.413000													18	107					5.03518e-11	7.44516e-11	1	1	0
CATSPER1	117144	broad.mit.edu	37	11	65793261	65793261	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:65793261G>T	ENST00000312106.5	-	1	727	c.590C>A	c.(589-591)tCc>tAc	p.S197Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	197	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.S197Y(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCTAAGGTGGGAAGCCTCGCT	0.637000													16	72					0.000422831	0.000465058	1	1	0
NELL2	4753	broad.mit.edu	37	12	44913901	44913901	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:44913901C>T	ENST00000429094.2	-	19	2791	c.2287G>A	c.(2287-2289)Gac>Aac	p.D763N	NELL2_ENST00000551601.1_Missense_Mutation_p.D715N|NELL2_ENST00000395487.2_Missense_Mutation_p.D762N|NELL2_ENST00000549027.1_Missense_Mutation_p.D762N|NELL2_ENST00000452445.2_Missense_Mutation_p.D763N|NELL2_ENST00000333837.4_Missense_Mutation_p.D786N|NELL2_ENST00000437801.2_Missense_Mutation_p.D813N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	763	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGATGGTGTCAGCCTGGCAA	0.537000													4	102					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416276	139416276	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:139416276C>G	ENST00000406875.3	-	2	652	c.558G>C	c.(556-558)ctG>ctC	p.L186L	HIPK2_ENST00000342645.6_Silent_p.L186L|HIPK2_ENST00000428878.2_Silent_p.L186L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	186	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.L186L(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATGCTGCACCAGCTGATAGT	0.572000													28	191					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786920	7786920	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:7786920C>T	ENST00000358415.4	+	19	2741	c.2575C>T	c.(2575-2577)Cta>Tta	p.L859L	ITIH2_ENST00000379587.4_Silent_p.L848L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	859					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L859L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGCCCACGGACTAATAGGTAA	0.453000													29	140					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197541345	197541345	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:197541345G>C	ENST00000389175.4	+	12	1465	c.1330G>C	c.(1330-1332)Gtg>Ctg	p.V444L	CCDC150_ENST00000423093.2_Missense_Mutation_p.V112L|CCDC150_ENST00000272831.7_Missense_Mutation_p.V112L|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	444								p.V444L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACAGCTGTGCAAAAAGA	0.408000													17	71					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576991	33576991	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:33576991G>T	ENST00000504830.1	-	19	3475	c.3140C>A	c.(3139-3141)gCa>gAa	p.A1047E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.A962E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1047	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1047E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGCTGATTGCTGGAGTGCT	0.552000										HNSCC(64;0.19)			22	102					3.8784e-16	6.57375e-16	1	1	0
ITGA2	3673	broad.mit.edu	37	5	52367778	52367778	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:52367778A>C	ENST00000296585.5	+	18	2389	c.2246A>C	c.(2245-2247)gAt>gCt	p.D749A		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	749					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GAGCCCTCTGATGTTGTCAAC	0.443000													4	37					0	0	1	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124779	26124779	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26124779G>T	ENST00000602637.1	+	1	349	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G107C			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	107					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G107C(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						TGCTCAGGGCGGCGTCCTTCC	0.577000													64	200					3.7469e-33	7.61787e-33	1	1	0
REG1P	5969	broad.mit.edu	37	2	79364468	79364468	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:79364468C>A	ENST00000444841.1	-	0	166																											GGCCTCCTGTCCTGGGAAAAG	0.488000													8	24					0.27861	0.279978	1	1	0
FNDC7	163479	broad.mit.edu	37	1	109270513	109270513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:109270513G>T	ENST00000370017.3	+	7	1472	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	FNDC7_ENST00000271311.2_Nonsense_Mutation_p.E400*	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	400	Fibronectin type-III 5.					extracellular region		p.E166*(1)|p.E399*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CCGTGGTGCCGAACTGTATGA	0.512000													13	193					5.50884e-06	6.56782e-06	1	1	0
MMP9	4318	broad.mit.edu	37	20	44642321	44642321	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:44642321A>T	ENST00000372330.3	+	10	1655	c.1636A>T	c.(1636-1638)Agg>Tgg	p.R546W	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	546	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.R546W(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTCTGAGGGCAGGGGGAGCCG	0.657000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	47					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374570	31374570	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:31374570G>T	ENST00000268296.4	+	14	1706	c.1585G>T	c.(1585-1587)Ggg>Tgg	p.G529W	ITGAX_ENST00000562522.1_Missense_Mutation_p.G529W	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	529					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.G529W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACAGTGCTGGGGGATGTGAA	0.607000													72	290					1.20111e-47	2.52563e-47	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167045790	167045790	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:167045790G>T	ENST00000392766.2	-	11	1142	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	ZBBX_ENST00000307529.5_Missense_Mutation_p.Q268K|ZBBX_ENST00000392767.2_Missense_Mutation_p.Q268K|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q268K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q239K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	268						intracellular	zinc ion binding	p.Q268K(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTTCTCCATTGACTTAACACT	0.373000													37	243					5.04308e-16	8.53605e-16	1	1	0
IRGC	56269	broad.mit.edu	37	19	44222873	44222873	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44222873C>G	ENST00000244314.5	+	2	362	c.163C>G	c.(163-165)Ctg>Gtg	p.L55V		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	55						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.L55V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AAGCATCCGCCTGGAGGTGGG	0.706000													40	118					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079941	29079941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29079941G>T	ENST00000377169.1	+	1	274	c.274G>T	c.(274-276)Gaa>Taa	p.E92*		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E92*(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTGGGGCCCGGAAAAGACCAT	0.488000													47	290					3.7052e-28	7.28581e-28	1	1	0
MAPK9	5601	broad.mit.edu	37	5	179696296	179696296	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:179696296C>A	ENST00000452135.2	-	3	534	c.236G>T	c.(235-237)tGt>tTt	p.C79F	MAPK9_ENST00000455781.1_Missense_Mutation_p.C79F|MAPK9_ENST00000347470.4_Missense_Mutation_p.C79F|MAPK9_ENST00000393360.3_Missense_Mutation_p.C79F|MAPK9_ENST00000425491.2_Missense_Mutation_p.C79F|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.C79F|MAPK9_ENST00000539014.1_Missense_Mutation_p.C79F			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	79	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.C79F(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGATTGACACATTTTAAGAG	0.358000													22	87					5.26018e-13	8.28672e-13	1	1	0
SPN	6693	broad.mit.edu	37	16	29675184	29675184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29675184C>A	ENST00000360121.3	+	2	227	c.135C>A	c.(133-135)taC>taA	p.Y45*	SPN_ENST00000395389.2_Nonsense_Mutation_p.Y45*|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	45					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	p.Y45*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CAAAGATGTACACCACTTCAA	0.562000													60	220					3.56336e-21	6.54571e-21	1	1	0
POTEE	445582	broad.mit.edu	37	2	132021400	132021400	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:132021400A>G	ENST00000356920.5	+	15	2466	c.2372A>G	c.(2371-2373)tAc>tGc	p.Y791C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	791	Actin-like.						ATP binding	p.Y791C(1)									CACACCTTCTACAACGAGCTG	0.587000													57	256					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861260	67861260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:67861260C>A	ENST00000388833.3	+	14	1988	c.1611C>A	c.(1609-1611)taC>taA	p.Y537*	TSNAXIP1_ENST00000561639.1_Nonsense_Mutation_p.Y591*|TSNAXIP1_ENST00000415766.3_Nonsense_Mutation_p.Y522*	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	537					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.Y537*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGCTCAACTACCGCTCACTGT	0.602000													24	198					1.1804e-14	1.93917e-14	1	1	0
TSPAN8	7103	broad.mit.edu	37	12	71531812	71531812	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:71531812T>C	ENST00000393330.2	-	9	917	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	TSPAN8_ENST00000247829.3_Missense_Mutation_p.Y122C|TSPAN8_ENST00000546561.1_Missense_Mutation_p.Y122C|TSPAN8_ENST00000552128.1_Missense_Mutation_p.Y39C			P19075	TSN8_HUMAN	tetraspanin 8	122					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.Y122C(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGTGTTTTCATAGAGAGTTTC	0.333000													29	203					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155231119	155231119	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:155231119G>T	ENST00000369423.2	+	2	129	c.91G>T	c.(91-93)Ggt>Tgt	p.G31C	IL9R_ENST00000244174.5_Intron|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000540897.1_Missense_Mutation_p.G21C			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					AACTTGCCACGGTGTTTCATG	0.547000													58	652					2.3441e-25	4.49774e-25	1	1	0
KIF5A	3798	broad.mit.edu	37	12	57965898	57965898	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57965898C>A	ENST00000455537.2	+	14	1691	c.1417C>A	c.(1417-1419)Ctg>Atg	p.L473M	KIF5A_ENST00000286452.5_Missense_Mutation_p.L384M	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	473					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.L473M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCTGAGCCACCTGCAATCAGA	0.582000													16	60					1.3612e-06	1.67239e-06	1	1	0
DSG2	1829	broad.mit.edu	37	18	29125888	29125888	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:29125888A>T	ENST00000261590.8	+	15	2748	c.2539A>T	c.(2539-2541)Ata>Tta	p.I847L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	847					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.I847L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AAAAATAGATATAAATAAGGA	0.373000													26	136					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32413568	32413568	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:32413568G>A	ENST00000332351.3	-	9	1666	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	WT1_ENST00000448076.3_Missense_Mutation_p.S461F|WT1_ENST00000530998.1_Missense_Mutation_p.S232F|WT1_ENST00000379079.2_Missense_Mutation_p.S249F	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	393					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V380_S410del(1)|p.S249F(1)|p.S393F(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTCGGACCGGGAGAACTTTCG	0.433000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				40	336					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29624839	29624839	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29624839G>T	ENST00000318184.5	-	16	1751	c.1752C>A	c.(1750-1752)caC>caA	p.H584Q	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	584	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.H584Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATGGCCAACAGTGGGGGCAGG	0.537000													20	45					5.03518e-11	7.44516e-11	1	1	0
CLDN11	5010	broad.mit.edu	37	3	170140990	170140990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:170140990C>A	ENST00000064724.3	+	2	468	c.266C>A	c.(265-267)tCg>tAg	p.S89*	CLDN11_ENST00000486975.1_Nonsense_Mutation_p.S89*|CLDN11_ENST00000451576.1_Nonsense_Mutation_p.S89*|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	89					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.S89*(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATTGCTGCCTCGGTCCTGGGT	0.617000													52	450					9.59835e-30	1.91499e-29	1	1	0
KLHL12	59349	broad.mit.edu	37	1	202878154	202878154	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:202878154C>T	ENST00000367261.3	-	6	1034	c.816G>A	c.(814-816)agG>agA	p.R272R	KLHL12_ENST00000435533.3_Silent_p.R310R|KLHL12_ENST00000367259.1_Silent_p.R5R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	272					Wnt receptor signaling pathway		protein binding	p.R272R(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGCCCTTGTCCTGGGTCCCT	0.463000													37	172					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278436	50278436	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:50278436C>T	ENST00000216268.4	+	2	1603	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	376						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.P376S(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCTCGTCTCCAGTAAAGCC	0.637000													17	160					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270534	65270534	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:65270534G>T	ENST00000534336.1	+	0	5302					NR_002819.2																						AGATGAGTTGGGATCAAGTGG	0.388000													9	16					3.86212e-05	4.42621e-05	1	1	0
NUP188	23511	broad.mit.edu	37	9	131744890	131744890	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:131744890G>T	ENST00000372577.2	+	16	1600	c.1579G>T	c.(1579-1581)Gca>Tca	p.A527S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	527					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.A527S(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGATGATAGGGCATACCTGGT	0.458000													19	124					1.01871e-10	1.48045e-10	1	1	0
SCAMP3	10067	broad.mit.edu	37	1	155228631	155228631	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:155228631T>G	ENST00000355379.3	-	4	703	c.425A>C	c.(424-426)tAc>tCc	p.Y142S	SCAMP3_ENST00000302631.3_Missense_Mutation_p.Y168S|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	168					post-Golgi vesicle-mediated transport|protein transport	integral to membrane		p.Y168S(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGAGGTAGTACATGGTGGA	0.488000													131	394					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231857	21231857	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21231857G>A	ENST00000233242.1	-	26	8010	c.7883C>T	c.(7882-7884)tCa>tTa	p.S2628L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2628					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S2628L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATCTGAACTGATGGAATCCT	0.408000													37	184					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6645253	6645253	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6645253C>A	ENST00000299441.3	-	21	8065	c.7654G>T	c.(7654-7656)Ggc>Tgc	p.G2552C		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2552	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGGCAGCCCAGTGCCCGG	0.602000													5	101					1.23904e-05	1.45532e-05	1	1	0
AKNA	80709	broad.mit.edu	37	9	117138909	117138909	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:117138909C>A	ENST00000223791.3	-	0	335				AKNA_ENST00000307564.4_Missense_Mutation_p.R393M|AKNA_ENST00000374075.5_Missense_Mutation_p.R312M|AKNA_ENST00000312033.3_Missense_Mutation_p.R393M|AKNA_ENST00000374088.3_Missense_Mutation_p.R393M			Q7Z591	AKNA_HUMAN	AT-hook transcription factor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GATGAGGGGCCTGGCAGGGGC	0.597000													16	96					2.35188e-11	3.50286e-11	1	1	0
C6	729	broad.mit.edu	37	5	41181563	41181563	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:41181563C>A	ENST00000263413.3	-	7	1089	c.825G>T	c.(823-825)ggG>ggT	p.G275G	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.G275G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	275	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G275G(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGAGCTCCCCCCCTGACTTG	0.378000													22	121					1.50039e-11	2.24146e-11	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2812973	2812973	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:2812973G>T	ENST00000301740.8	+	11	2993	c.2444G>T	c.(2443-2445)aGt>aTt	p.S815I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	815	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.S815I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCAGACGCAGTCGCTCCAGT	0.488000													44	683					7.70917e-36	1.58574e-35	1	1	0
INO80	54617	broad.mit.edu	37	15	41377597	41377597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:41377597C>T	ENST00000361937.3	-	7	1267	c.843G>A	c.(841-843)tgG>tgA	p.W281*	INO80_ENST00000401393.3_Nonsense_Mutation_p.W281*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	281	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAATGCTGAGCCATACTTTCC	0.463000													15	198					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135455194	135455194	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135455194C>G	ENST00000394143.1	+	15	8038	c.7747C>G	c.(7747-7749)Cac>Gac	p.H2583D	GPR112_ENST00000412101.1_Missense_Mutation_p.H2378D|GPR112_ENST00000394141.1_Missense_Mutation_p.H2378D|GPR112_ENST00000370652.1_Missense_Mutation_p.H2583D|GPR112_ENST00000287534.4_Missense_Mutation_p.H2381D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2583					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H2583D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTCAGCATTCACTCCTATGA	0.532000													234	352					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115220007	115220007	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:115220007G>T	ENST00000369538.3	-	9	1487	c.1440C>A	c.(1438-1440)ccC>ccA	p.P480P	AMPD1_ENST00000520113.2_Silent_p.P484P|AMPD1_ENST00000353928.6_Silent_p.P451P	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	451					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATGTCATGTTGGGGCAGTGGA	0.542000													14	147					2.32078e-09	3.19677e-09	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13603372	13603372	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:13603372C>A	ENST00000040738.5	-	10	5287	c.5152G>T	c.(5152-5154)Ggt>Tgt	p.G1718C		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1718							DNA binding	p.G1718C(1)									TTTTTGGGACCCATTCTCATC	0.483000													50	211					1.86633e-21	3.4464e-21	1	1	0
GPC5	2262	broad.mit.edu	37	13	92345961	92345961	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:92345961G>C	ENST00000377067.3	+	3	1218	c.846G>C	c.(844-846)ctG>ctC	p.L282L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	282						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GAGGCTGCCTGGCGCACATGG	0.552000													8	177					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27105667	27105667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:27105667G>T	ENST00000324856.7	+	20	5649	c.5278G>T	c.(5278-5280)Gag>Tag	p.E1760*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E88*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1377*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1543*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1760					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1760*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTCCCATGGAGGGTGGGGA	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								35	137					1.62565e-12	2.51423e-12	1	1	0
TLR8	51311	broad.mit.edu	37	X	12939284	12939284	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:12939284G>A	ENST00000218032.6	+	2	2212	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	TLR8_ENST00000311912.5_Missense_Mutation_p.D727N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	709					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.D727N(1)|p.D727Y(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGCCTATCTGACTTTACATC	0.433000													13	152					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953439	56953439	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56953439G>T	ENST00000504904.3	-	7	1644	c.925C>A	c.(925-927)Cct>Act	p.P309T	ZNF667_ENST00000342634.3_Missense_Mutation_p.P437T|ZNF667_ENST00000292069.6_Missense_Mutation_p.P309T|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P309T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCATTTTCAGGGATTTTCTCT	0.333000													66	114					3.28615e-30	6.57231e-30	1	1	0
DRC1	92749	broad.mit.edu	37	2	26644177	26644177	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:26644177T>A	ENST00000288710.2	+	3	339	c.265T>A	c.(265-267)Tgt>Agt	p.C89S		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.C89S(1)									ACTTCTGCTCTGTGGCACCGA	0.363000													4	106					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10423937	10423937	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:10423937G>T	ENST00000274140.5	+	23	2505		c.e23+1		MARCH6_ENST00000449913.2_Splice_Site|MARCH6_ENST00000510792.1_Splice_Site|MARCH6_ENST00000503788.1_Splice_Site	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase						protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AATTGAACAGGTAAGCAAAAT	0.398000													9	64					1.12685e-05	1.33376e-05	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60506077	60506077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:60506077C>T	ENST00000400316.4	+	3	2079	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	PHLPP1_ENST00000262719.5_Nonsense_Mutation_p.Q612*|PHLPP1_ENST00000588953.1_3'UTR	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	612					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.Q612*(2)|p.Q99*(1)		endometrium(2)|kidney(2)|lung(13)	17						ACCCCAAAGCCAGACTTACTA	0.423000													31	124					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207782848	207782848	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:207782848C>T	ENST00000367049.4	+	37	6110	c.6110C>T	c.(6109-6111)tCt>tTt	p.S2037F	CR1_ENST00000400960.2_Missense_Mutation_p.S1587F|CR1_ENST00000367053.1_Missense_Mutation_p.S1587F|CR1_ENST00000367051.1_Missense_Mutation_p.S1587F|CR1_ENST00000367052.1_Missense_Mutation_p.S1587F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1587					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.S1592F(1)|p.S2037F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CGGTGTATTTCTACTAATAAA	0.438000													7	55					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145439780	145439780	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145439780C>G	ENST00000369317.4	+	3	660	c.326C>G	c.(325-327)cCt>cGt	p.P109R	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	109					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.P109R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACACAGGCCTCTGGGAACA	0.413000													16	251					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924496	70924496	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:70924496G>T	ENST00000603540.1	+	2	538	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	ADAM21_ENST00000267499.3_Missense_Mutation_p.D94Y|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	94					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CACCTACACAGATGACCGTGC	0.512000													5	262					0.00116845	0.00125644	1	1	0
CD200R1	131450	broad.mit.edu	37	3	112643989	112643989	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:112643989G>T	ENST00000471858.1	-	5	984	c.752C>A	c.(751-753)aCt>aAt	p.T251N	CD200R1_ENST00000308611.3_Missense_Mutation_p.T274N|CD200R1_ENST00000295863.4_Intron	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	251					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.T274N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AATAATAATAGTAAGGATGAT	0.313000													12	82					9.05144e-12	1.36132e-11	1	1	0
LINC00477	144360	broad.mit.edu	37	12	24736571	24736571	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:24736571G>T	ENST00000483544.1	-	0	531					NR_029451.2													p.P161P(2)									GAAAAAAAGGGGGCCCAGGAC	0.552000													25	173					1.85244e-09	2.55739e-09	1	1	0
LRP1	4035	broad.mit.edu	37	12	57559898	57559898	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57559898G>T	ENST00000243077.3	+	17	3169	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	901	LDL-receptor class A 4.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.K901N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGATTCAAGTGCGAGAACA	0.592000													17	114					2.94398e-08	3.88106e-08	1	1	0
EMILIN2	84034	broad.mit.edu	37	18	2885108	2885108	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:2885108G>A	ENST00000254528.3	+	3	563	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	135					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACGCCGGCTCGGCCTCGAAAC	0.512000													11	178					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459775	142459775	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142459775A>T	ENST00000486171.1	+	4	410	c.393A>T	c.(391-393)gcA>gcT	p.A131A	PRSS1_ENST00000311737.7_Silent_p.A117A			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	117	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.A117A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCACGTGCAGTAATCAACG	0.557000													76	270					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121744024	121744024	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:121744024G>C	ENST00000452319.1	+	13	2187	c.2127G>C	c.(2125-2127)ctG>ctC	p.L709L	GLI2_ENST00000361492.4_Silent_p.L709L|GLI2_ENST00000314490.11_Silent_p.L381L			P10070	GLI2_HUMAN	GLI family zinc finger 2	709					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L709L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCAGCCCTGGCTGCCCCCT	0.642000													13	81					0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131398035	131398035	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:131398035G>T	ENST00000296870.2	+	3	413	c.235G>T	c.(235-237)Gca>Tca	p.A79S		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	79					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	p.A79S(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AAACCTGGAGGCATTCAACAG	0.483000													42	534					2.43468e-25	4.6679e-25	1	1	0
CASC10	399726	broad.mit.edu	37	10	21784772	21784772	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:21784772C>A	ENST00000377113.5	-	2	615	c.168G>T	c.(166-168)ccG>ccT	p.P56P		NM_001010911.2	NP_001010911.1			cancer susceptibility candidate 10									p.P56P(1)									CGGAGGCGCCCGGCACCTGCA	0.776000											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0.184627	0.186449	1	1	0
PTCH1	5727	broad.mit.edu	37	9	98220410	98220410	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:98220410C>A	ENST00000430669.2	-	18	3440	c.2855G>T	c.(2854-2856)tGg>tTg	p.W952L	PTCH1_ENST00000421141.1_Missense_Mutation_p.W867L|PTCH1_ENST00000429896.2_Missense_Mutation_p.W867L|PTCH1_ENST00000375274.2_Missense_Mutation_p.W1017L|PTCH1_ENST00000437951.1_Missense_Mutation_p.W952L|PTCH1_ENST00000331920.6_Missense_Mutation_p.W1018L|PTCH1_ENST00000418258.1_Missense_Mutation_p.W867L			Q13635	PTC1_HUMAN	patched 1	1018					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	p.W1018L(2)|p.W1017L(2)|p.I963fs*2(1)		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)				GTACTGCTCCCAGAAGAGGAA	0.562000													12	125					0.00136819	0.0014693	1	1	0
MYO1B	4430	broad.mit.edu	37	2	192194697	192194697	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:192194697A>T	ENST00000392318.3	+	4	535	c.288A>T	c.(286-288)cgA>cgT	p.R96R	MYO1B_ENST00000392316.1_Silent_p.R96R|MYO1B_ENST00000339514.4_Silent_p.R96R|MYO1B_ENST00000304164.4_Silent_p.R96R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	96	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R96R(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GATCCCTACGAGATCAAGATA	0.423000													42	472					0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54418875	54418875	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:54418875G>T	ENST00000245451.4	-	3	459	c.66C>A	c.(64-66)agC>agA	p.S22R	BMP4_ENST00000559087.1_Missense_Mutation_p.S22R|BMP4_ENST00000417573.1_Missense_Mutation_p.S22R|BMP4_ENST00000558984.1_Missense_Mutation_p.S22R	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	22					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.S22R(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AACTAGCATGGCTCGCGCCTC	0.582000													41	115					1.59361e-14	2.59543e-14	1	1	0
PDILT	204474	broad.mit.edu	37	16	20386220	20386220	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20386220G>T	ENST00000302451.4	-	5	853	c.605C>A	c.(604-606)aCg>aAg	p.T202K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	202					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.T202K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GACTCCAAACGTTAGCTCTGG	0.423000													11	200					1.58986e-06	1.94651e-06	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125617621	125617621	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:125617621C>A	ENST00000373670.1	-	14	3257	c.2657G>T	c.(2656-2658)aGg>aTg	p.R886M	RC3H2_ENST00000423239.2_Missense_Mutation_p.R886M|RC3H2_ENST00000357244.2_Missense_Mutation_p.R886M			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	886						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.R886M(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTTTTGTCCTTCTCTGGGT	0.398000													11	111					3.07112e-06	3.71743e-06	1	1	0
TRMT2A	27037	broad.mit.edu	37	22	20100126	20100126	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:20100126T>C	ENST00000252136.7	-	12	2226	c.1838A>G	c.(1837-1839)gAt>gGt	p.D613G	TRMT2A_ENST00000439169.2_Missense_Mutation_p.D631G|TRMT2A_ENST00000404751.3_3'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.D613G	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	613					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	p.D613G(1)		breast(2)|endometrium(2)|lung(5)	9						TAGGGTGTTATCTGGGGGTCC	0.622000													23	74					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306042	54306042	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:54306042T>A	ENST00000545554.1	+	1	942	c.942T>A	c.(940-942)caT>caA	p.H314Q	UNC13C_ENST00000260323.11_Missense_Mutation_p.H314Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.H314Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	314					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.H314Q(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTAGGTCATATGGGTAGCA	0.393000													37	161					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27185502	27185502	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:27185502C>A	ENST00000380036.4	+	9	1644	c.1202C>A	c.(1201-1203)aCg>aAg	p.T401K	TEK_ENST00000519097.1_Missense_Mutation_p.T254K|TEK_ENST00000406359.4_Missense_Mutation_p.T358K	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	401	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T401K(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTTAACCATACGGATCATTTC	0.448000													82	212					1.76421e-39	3.66884e-39	1	1	0
CPSF6	11052	broad.mit.edu	37	12	69656271	69656271	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:69656271A>G	ENST00000435070.2	+	9	1698	c.1588A>G	c.(1588-1590)Agg>Ggg	p.R530G	CPSF6_ENST00000551516.1_Silent_p.R32R|CPSF6_ENST00000456847.3_Missense_Mutation_p.R457G|CPSF6_ENST00000266679.8_Missense_Mutation_p.R567G	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	530	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.R530G(2)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGAACGAGAGAGGCACCGGGA	0.502000													12	131					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876961	42876961	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:42876961G>A	ENST00000025301.2	+	8	4254	c.4079G>A	c.(4078-4080)aGt>aAt	p.S1360N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1360					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.S1360N(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GGTGGTAATAGTGAGTTGATA	0.413000													36	125					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885138	38885138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:38885138C>G	ENST00000359357.3	+	67	9867	c.9613C>G	c.(9613-9615)Cca>Gca	p.P3205A	DNAH8_ENST00000441566.1_Missense_Mutation_p.P3169A|DNAH8_ENST00000449981.2_Missense_Mutation_p.P3422A					dynein, axonemal, heavy chain 8									p.P3205A(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACTATGGATCCAGAAAAATC	0.398000													13	173					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453896	84453896	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:84453896C>A	ENST00000377084.2	-	1	2632	c.1747G>T	c.(1747-1749)Gct>Tct	p.A583S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	583						integral to membrane		p.A583S(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGATCCTAGCGTACAGCTGA	0.542000													17	51					0.006122	0.00643374	1	1	0
EBNA1BP2	10969	broad.mit.edu	37	1	43637203	43637203	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:43637203G>A	ENST00000431635.2	-	4	583	c.435C>T	c.(433-435)aaC>aaT	p.N145N	EBNA1BP2_ENST00000236051.2_Silent_p.N90N|EBNA1BP2_ENST00000472982.1_5'UTR	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	90					ribosome biogenesis	membrane fraction|nucleolus	protein binding	p.N90N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGGTCCTTGTTCTGAGGTG	0.507000													72	317					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101337	168101337	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:168101337A>T	ENST00000409195.1	+	9	3524	c.3435A>T	c.(3433-3435)acA>acT	p.T1145T	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T1145T|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.T923T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	970					actin cytoskeleton organization	cell junction	actin binding	p.T1145T(1)		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						ACTCTGAAACAGCAGTCAAAT	0.393000													21	105					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73814209	73814209	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:73814209C>G	ENST00000334126.7	-	14	2773	c.2547G>C	c.(2545-2547)tgG>tgC	p.W849C	C2CD3_ENST00000313663.7_Missense_Mutation_p.W849C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	849						centrosome		p.W849C(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTGTTGTGCCCCATGCGATGA	0.383000													55	227					0	0	1	0	0
ADAT2	134637	broad.mit.edu	37	6	143759805	143759805	+	Translation_Start_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:143759805T>A	ENST00000606514.1	-	0	566				AL031320.1_ENST00000595616.1_Intron|ADAT2_ENST00000237283.8_Missense_Mutation_p.E41D			Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2						tRNA processing		hydrolase activity|zinc ion binding	p.E41D(1)		endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		CAACAGGAACTTCAGTATTTT	0.393000													12	109					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234088	21234088	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21234088G>T	ENST00000233242.1	-	26	5779	c.5652C>A	c.(5650-5652)aaC>aaA	p.N1884K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1884					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.N1884K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGAATTATAGTTTGTGCTCA	0.473000													30	157					2.65835e-16	4.5214e-16	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11593083	11593083	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:11593083G>T	ENST00000262442.3	+	20	4012	c.3944G>T	c.(3943-3945)aGc>aTc	p.S1315I	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1315I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1315	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1315I(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGACCTCCAGCATCCATGCC	0.537000													21	71					8.04996e-18	1.41523e-17	1	1	0
FBXW10	10517	broad.mit.edu	37	17	18675739	18675739	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:18675739C>T	ENST00000308799.4	+	11	2327	c.2108C>T	c.(2107-2109)aCa>aTa	p.T703I	FBXW10_ENST00000395665.4_Missense_Mutation_p.T674I|FBXW10_ENST00000301938.4_Missense_Mutation_p.T621I|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Missense_Mutation_p.T674I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	674								p.T674I(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTGGTCAACACAGAGAGCAAT	0.458000													78	199					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247804	177247804	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:177247804A>T	ENST00000361539.4	+	7	1430	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		373						extracellular region		p.Q373L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CACCGCTACCAGCAGCTGGGA	0.592000													37	502					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013214	5013214	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5013214G>A	ENST00000380390.1	+	6	832	c.616G>A	c.(616-618)Gca>Aca	p.A206T	MMP26_ENST00000300762.1_Missense_Mutation_p.A206T			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	206					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A206T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTCCTGGTTGCAACTCATGA	0.393000													6	56					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585465	70585465	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:70585465T>C	ENST00000260126.3	-	10	2892	c.2186A>G	c.(2185-2187)tAc>tGc	p.Y729C	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.Y674C|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	729						integral to membrane|plasma membrane	transporter activity	p.Y729C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTCACGTTGTACTCCCAGCA	0.453000													49	337					0	0	1	0	0
GALNT16	57452	broad.mit.edu	37	14	69806305	69806305	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:69806305C>T	ENST00000337827.4	+	11	1483	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	GALNT16_ENST00000553669.1_Missense_Mutation_p.R386W|GALNT16_ENST00000448469.3_Missense_Mutation_p.R386W	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16									p.R386W(1)									CTATGAGGCCCGGCCCTCGGC	0.537000													12	137					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62596021	62596021	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:62596021C>A	ENST00000450537.1	-	6	1143	c.1083G>T	c.(1081-1083)agG>agT	p.R361S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R361S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R361S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R361S(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CATTCTCTGGCCTGGCCTGCT	0.667000													22	64					1.85244e-09	2.55739e-09	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685886	125685886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:125685886C>A	ENST00000371126.1	-	1	948	c.706G>T	c.(706-708)Gag>Tag	p.E236*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	236								p.E236*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGACCCACCTCGCTATGCCAG	0.652000													17	71					2.23348e-06	2.7223e-06	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21628230	21628230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:21628230C>A	ENST00000328843.6	+	11	1980	c.1949C>A	c.(1948-1950)tCa>tAa	p.S650*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.S650*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	650	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						ATGTTTTGGTCAAACTTCGCA	0.393000									Kartagener syndrome				7	139					7.01153e-11	1.02685e-10	1	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896865	48896865	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:48896865C>T	ENST00000394754.1	+	9	3209	c.3095C>T	c.(3094-3096)tCt>tTt	p.S1032F	STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S985F|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.S328F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S1032F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S1032F|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S294F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S1032F	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		985					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.S1032F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTTAGGATTCTAATTCTCAG	0.294000													10	179					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647418	38647418	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:38647418C>T	ENST00000494540.1	+	0	289					NR_003086.1																						GTCATTCTTCCGGGCCTCCAA	0.473000													14	73					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060814	12060814	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:12060814A>G	ENST00000482090.1	+	3	2339	c.1921A>G	c.(1921-1923)Aaa>Gaa	p.K641E	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.K659E|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K659E(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGCATTCTGTAAATTCTCTTC	0.413000													10	71					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513367	89513367	+	RNA	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:89513367G>A	ENST00000498435.1	-	0	46																											AGCTGAGCAGGGACCCTCATG	0.522000													28	138					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637310	45637310	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:45637310A>T	ENST00000273317.4	+	1	960	c.939A>T	c.(937-939)agA>agT	p.R313S	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.R313S	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	313					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	p.R313S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTCTTCCAAGATCAAACTCGG	0.597000													10	138					0	0	1	0	0
AC005609.1	0	broad.mit.edu	37	5	140242421	140242421	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140242421C>G	ENST00000502505.1	-	1	803	c.555G>C	c.(553-555)atG>atC	p.M185I	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron																							GCGACGCGGGCATGCCGCCTC	0.642000													9	59					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59494607	59494607	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:59494607C>A	ENST00000288235.4	-	16	2016		c.e16-1			NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE						actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.?(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TATGAAAGGCCTGGAAAAGGA	0.463000													13	115					9.05144e-12	1.36132e-11	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79117635	79117635	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:79117635C>A	ENST00000554719.1	+	3	559	c.68C>A	c.(67-69)cCt>cAt	p.P23H	NRXN3_ENST00000335750.5_Missense_Mutation_p.P23H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.P23H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTGGCTCCCCTGTCAGCAAC	0.468000													9	222					2.74318e-10	3.93531e-10	1	1	0
SULT1A2	6799	broad.mit.edu	37	16	28603402	28603402	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:28603402C>T	ENST00000533150.1	-	4	1852	c.736G>A	c.(736-738)Gac>Aac	p.D246N	SULT1A2_ENST00000335715.4_Missense_Mutation_p.D279N|SULT1A2_ENST00000395630.1_Missense_Mutation_p.D279N			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	279					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	p.D279N(1)		NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCGCATAGTCCGCATCGAAG	0.607000													16	51					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72286021	72286021	+	RNA	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:72286021C>G	ENST00000438125.1	-	0	273							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ACAGGCAGATCCAGGGACGTA	0.353000													21	116					0	0	1	0	0
CGA	1081	broad.mit.edu	37	6	87796106	87796106	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:87796106C>A	ENST00000369582.2	-	3	235	c.135G>T	c.(133-135)ccG>ccT	p.P45P		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	45					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.P45P(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TTGGGGCACCCGGCTGGGAGA	0.458000													43	181					2.13384e-23	4.02822e-23	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64635688	64635688	+	Splice_Site	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:64635688A>C	ENST00000357395.3	+	94	17298	c.6155_splice	c.e94+1	p.R2052_splice	SYNE2_ENST00000394768.2_Splice_Site_p.R2052_splice|SYNE2_ENST00000344113.4_Splice_Site_p.R5667_splice|SYNE2_ENST00000555002.1_Splice_Site_p.R2301_splice|SYNE2_ENST00000554584.1_Splice_Site_p.R5542_splice|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Splice_Site_p.R5667_splice			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5667					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.R5667R(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATAGAGAACAGGTGAGCTGT	0.468000													51	78					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028190	37028190	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:37028190T>C	ENST00000358047.3	+	1	1759	c.1707T>C	c.(1705-1707)agT>agC	p.S569S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	569								p.S569S(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGATGTACAGTCTCCGCCCGG	0.642000													26	117					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51031986	51031986	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:51031986C>A	ENST00000261854.5	-	6	898	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	208						integral to membrane	aspartic-type endopeptidase activity	p.M208I(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCTTTTTCCTCATTTCTCTAT	0.318000													10	67					0.000673444	0.000730879	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166737205	166737205	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166737205C>A	ENST00000243344.7	-	27	3926	c.3789G>T	c.(3787-3789)cgG>cgT	p.R1263R	TTC21B_ENST00000536175.1_Silent_p.R201R	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1263						cilium axoneme|cytoplasm|cytoskeleton	binding	p.R1263R(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCGGATTTGTCCGATTGCTAT	0.333000													20	109					2.89027e-11	4.29172e-11	1	1	0
C17orf51	339263	broad.mit.edu	37	17	21477603	21477603	+	RNA	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:21477603G>C	ENST00000536958.2	-	0	178																											tcaggtcctggcatccggaga	0.682000													16	34					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19389161	19389161	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:19389161G>A	ENST00000338883.4	-	24	3315	c.3316C>T	c.(3316-3318)Cac>Tac	p.H1106Y	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.H938Y|MAP3K15_ENST00000359173.3_Missense_Mutation_p.H541Y	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1106							ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.H581Y(1)|p.H1153Y(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTAATTAAGTGGTTCCTCaaa	0.443000													12	25					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70339153	70339153	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:70339153C>A	ENST00000370958.1	+	8	841	c.651C>A	c.(649-651)atC>atA	p.I217I	LRRC7_ENST00000035383.5_Intron|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCTTAGCATCTGAAGATCCA	0.443000													16	307					2.4624e-09	3.38046e-09	1	1	0
DNAAF1	123872	broad.mit.edu	37	16	84189346	84189346	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:84189346C>A	ENST00000378553.5	+	5	857	c.733C>A	c.(733-735)Ccc>Acc	p.P245T	DNAAF1_ENST00000334315.5_Missense_Mutation_p.P245T	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	245					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.P245T(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGAAAGCATGCCCGATTTGGT	0.413000													25	80					1.66031e-10	2.39583e-10	1	1	0
BCL6B	255877	broad.mit.edu	37	17	6929781	6929781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:6929781G>T	ENST00000293805.5	+	6	987	c.895G>T	c.(895-897)Gaa>Taa	p.E299*		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	299						nucleus	zinc ion binding	p.E299*(1)		skin(1)	1						CCCAGGAAGTGAATTTTTCAG	0.507000													53	161					4.32865e-36	8.91876e-36	1	1	0
CHD1	1105	broad.mit.edu	37	5	98236531	98236531	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:98236531C>T	ENST00000284049.3	-	6	992	c.843G>A	c.(841-843)cgG>cgA	p.R281R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	281	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCTCCCAATCCGACAATCCA	0.403000													7	122					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635593	122635593	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:122635593C>A	ENST00000249284.2	-	1	161	c.96G>T	c.(94-96)ctG>ctT	p.L32L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	32					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.L32L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTCTCTGCCCAGCACTGCAA	0.478000													10	102					1.08611e-07	1.40246e-07	1	1	0
EPSTI1	94240	broad.mit.edu	37	13	43462494	43462494	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:43462494G>T	ENST00000313640.7	-	13	1189	c.1125C>A	c.(1123-1125)gtC>gtA	p.V375V	EPSTI1_ENST00000313624.7_3'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	0								p.V375V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AGTCACTCCTGACTGCACGGT	0.418000													29	108					1.68575e-08	2.23554e-08	1	1	0
WNT7A	7476	broad.mit.edu	37	3	13896298	13896298	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:13896298T>A	ENST00000285018.4	-	3	605	c.301A>T	c.(301-303)Agc>Tgc	p.S101C		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	101					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.S101C(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GCCTCCCGGCTCCCTGCGAGG	0.627000													21	96					0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130648810	130648810	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:130648810C>T	ENST00000373142.1	-	7	1238	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373141.1_3'UTR|ST6GALNAC6_ENST00000373144.3_3'UTR|ST6GALNAC6_ENST00000373146.1_3'UTR|ST6GALNAC6_ENST00000542456.1_3'UTR|ST6GALNAC6_ENST00000291839.5_3'UTR	NM_013443.3	NP_038471.2	Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	0					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAAGATGGTCCCTGGCCTAGC	0.627000													4	34					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30297350	30297350	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:30297350A>C	ENST00000376659.5	+	3	854	c.256A>C	c.(256-258)Agt>Cgt	p.S86R	TRIM39_ENST00000396548.1_Missense_Mutation_p.S86R|TRIM39_ENST00000396547.1_Missense_Mutation_p.S86R|TRIM39_ENST00000396551.3_Missense_Mutation_p.S86R|TRIM39_ENST00000540416.1_Missense_Mutation_p.S86R|TRIM39_ENST00000376656.4_Missense_Mutation_p.S86R	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GCAACTAGGCAGTATGGTGGA	0.577000													5	125					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299535	141299535	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141299535T>A	ENST00000389484.3	-	44	8171	c.7200A>T	c.(7198-7200)atA>atT	p.I2400I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2400					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.I2400I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATTTAACTATCACCTGAA	0.338000										TSP Lung(27;0.18)			19	47					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167557	97167557	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:97167557T>A	ENST00000389672.5	+	7	1915	c.1877T>A	c.(1876-1878)tTt>tAt	p.F626Y	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	531						integral to plasma membrane	ATP binding|ephrin receptor activity	p.F532Y(2)|p.F626Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAATTTGAATTTGAAACAGGA	0.378000													41	117					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102992159	102992159	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:102992159A>T	ENST00000375735.2	+	10	1563	c.1419A>T	c.(1417-1419)ccA>ccT	p.P473P	DYNC2H1_ENST00000398093.3_Silent_p.P473P|DYNC2H1_ENST00000334267.7_Silent_p.P473P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	473	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.P473P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATCTGGACCACTTTCTGGCA	0.328000													12	68					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32626214	32626214	+	Splice_Site	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:32626214A>T	ENST00000373625.3	+	7	651		c.e7-1		KPNA6_ENST00000469790.1_Splice_Site|KPNA6_ENST00000537234.1_Splice_Site|KPNA6_ENST00000545542.1_Splice_Site	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)						NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	p.?(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TCCCCTTTTCAGGCAGTCTGG	0.443000													18	88					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113356453	113356453	+	Missense_Mutation	SNP	G	G	T	rs142605222		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:113356453G>T	ENST00000458497.1	+	12	3463	c.3184G>T	c.(3184-3186)Ggg>Tgg	p.G1062W	ALPK1_ENST00000177648.9_Missense_Mutation_p.G1062W|ALPK1_ENST00000504176.2_Missense_Mutation_p.G984W	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1062	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity	p.G1062W(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGAAATTCTGGGGAGGTATTA	0.363000													22	233					6.44725e-10	9.07939e-10	1	1	0
DSG2	1829	broad.mit.edu	37	18	29125986	29125986	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:29125986G>C	ENST00000261590.8	+	15	2846	c.2637G>C	c.(2635-2637)gaG>gaC	p.E879D	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	879					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E879D(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTAATTCAGAGAATACCTACT	0.393000													30	147					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632583	3632583	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:3632583C>A	ENST00000294008.3	-	15	5905	c.5265G>T	c.(5263-5265)gcG>gcT	p.A1755A	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1755	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACCTCAGCGCCTCGTCTG	0.647000								Direct reversal of damage					6	134					0.00116845	0.00125644	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15989745	15989745	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:15989745C>A	ENST00000268712.3	-	23	3285	c.3028G>T	c.(3028-3030)Gct>Tct	p.A1010S	NCOR1_ENST00000395851.1_Missense_Mutation_p.A1026S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1010	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.A1010S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGATGTGGAGCAGGCTGAAGG	0.438000													45	51					9.58827e-17	1.64562e-16	1	1	0
PITX1	5307	broad.mit.edu	37	5	134366998	134366998	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:134366998C>T	ENST00000265340.7	-	2	786	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	PITX1_ENST00000506438.1_Missense_Mutation_p.V124M	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	124						nucleolus	sequence-specific DNA binding	p.V124M(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TTGGTCCACACGGCGATCTCC	0.672000													21	63					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75116016	75116016	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:75116016G>A	ENST00000309664.5	+	12	1455	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.G427D	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	439						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.G439D(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGCTTCGGGGCCCGGCGGTG	0.622000													14	92					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045310	142045310	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142045310C>A	ENST00000390392.3	+	0	59																											CAGAGCCCAGCACCTCACCCA	0.602000													15	147					6.31663e-08	8.22568e-08	1	1	0
ANK2	287	broad.mit.edu	37	4	114279550	114279550	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:114279550C>A	ENST00000357077.4	+	38	9829	c.9776C>A	c.(9775-9777)tCc>tAc	p.S3259Y	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3226Y|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3226					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S3259*(1)		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)		TTAGATTTTTCCACACTCACC	0.478000													20	160					3.51602e-12	5.39371e-12	1	1	0
ANO3	63982	broad.mit.edu	37	11	26669343	26669343	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:26669343C>A	ENST00000256737.3	+	24	3368	c.2516C>A	c.(2515-2517)cCa>cAa	p.P839Q	ANO3_ENST00000531568.1_Missense_Mutation_p.P693Q|ANO3_ENST00000537978.1_Missense_Mutation_p.P823Q|ANO3_ENST00000525139.1_Missense_Mutation_p.P823Q	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	839						chloride channel complex	chloride channel activity	p.P839Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GATTACATCCCACGTTTTGTT	0.348000													13	93					4.3838e-07	5.52985e-07	1	1	0
TAF5L	27097	broad.mit.edu	37	1	229730411	229730411	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:229730411C>G	ENST00000258281.2	-	5	1568	c.1403G>C	c.(1402-1404)cGt>cCt	p.R468P	TAF5L_ENST00000366676.1_Missense_Mutation_p.R468P	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	468					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R468P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGGGGCCACGGTGGCCTGT	0.607000													31	256					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569885	248569885	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248569885G>T	ENST00000366474.1	+	1	590	c.590G>T	c.(589-591)gGt>gTt	p.G197V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G197V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ATTATAGCAGGTTCCTGGTTT	0.542000													42	154					7.53189e-24	1.42844e-23	1	1	0
CDH15	1013	broad.mit.edu	37	16	89246675	89246675	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:89246675A>T	ENST00000289746.2	+	3	334	c.269A>T	c.(268-270)gAg>gTg	p.E90V	CDH15_ENST00000521087.1_Intron	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	90	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.E90V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GTGGATGAGGAGCCCCGGGGC	0.602000													5	29					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704587	117704587	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:117704587C>A	ENST00000368508.3	-	16	2587	c.2389G>T	c.(2389-2391)Gtt>Ttt	p.V797F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V792F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	797					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V797F(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TATCCACCAACTGAATCCACC	0.443000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	275					1.99824e-07	2.55608e-07	1	1	0
PIP4K2C	79837	broad.mit.edu	37	12	57987870	57987870	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57987870C>A	ENST00000354947.5	+	2	253	c.237C>A	c.(235-237)agC>agA	p.S79R	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S79R|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S79R|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.S79R			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	79	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.S79R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TTAAGGCCAGCTCCAAGATCA	0.448000													8	64					3.09899e-07	3.9395e-07	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14778850	14778850	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:14778850C>T	ENST00000261170.3	-	21	2386		c.e21-1			NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)						intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.?(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ATGAAAAAGTCTGTAGGTAGt	0.323000													14	69					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075602	100075602	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100075602C>A	ENST00000300181.2	-	2	814	c.60G>T	c.(58-60)gaG>gaT	p.E20D	TSC22D4_ENST00000393991.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	20					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.E20D(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCAGGGCCCTCATAGTCCG	0.697000													5	12					0.00116845	0.00125644	1	1	0
MLLT10	8028	broad.mit.edu	37	10	21884352	21884352	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:21884352C>T	ENST00000377072.3	+	5	736	c.388C>T	c.(388-390)Cat>Tat	p.H130Y	MLLT10_ENST00000307729.7_Missense_Mutation_p.H130Y|MLLT10_ENST00000446906.2_Missense_Mutation_p.H130Y|MLLT10_ENST00000377059.3_Missense_Mutation_p.H130Y|MLLT10_ENST00000495130.1_3'UTR	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	130	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GTCTGTTCCGCATGATCGTTA	0.358000			T	"""MLL, PICALM, CDK6"""	AL								7	96					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246689	80246689	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:80246689T>A	ENST00000286794.4	-	1	515	c.343A>T	c.(343-345)Aac>Tac	p.N115Y		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	115	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.N115Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GCTGGCCGGTTACTCTTCCTG	0.512000													10	78					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109507780	109507780	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:109507780C>A	ENST00000262844.5	-	2	688	c.521G>T	c.(520-522)gGa>gTa	p.G174V	AMMECR1_ENST00000372057.1_Missense_Mutation_p.G51V|AMMECR1_ENST00000372059.2_Intron	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	174	AMMECR1.							p.G174V(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						ACCTATGCATCCACGTAATCT	0.368000													14	110					1.3612e-06	1.67239e-06	1	1	0
OAT	4942	broad.mit.edu	37	10	126091575	126091575	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:126091575C>T	ENST00000368845.5	-	7	913	c.821G>A	c.(820-822)aGa>aAa	p.R274K	OAT_ENST00000539214.1_Missense_Mutation_p.R136K|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	274					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding	p.R274K(1)		endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	AGCCAGCCATCTACCAGTTCT	0.438000													20	416					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458840	248458840	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248458840C>A	ENST00000317996.1	-	1	40	c.41G>T	c.(40-42)gGa>gTa	p.G14V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14V(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GTTAAAGAGTCCTAGGAGAAT	0.443000													17	252					4.96729e-08	6.48918e-08	1	1	0
SNORD114-3	767579	broad.mit.edu	37	14	101419737	101419737	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:101419737C>T	ENST00000364969.1	+	0	52					NR_003195.1																						ATGAATACTACGTGTCTGAAA	0.403000													9	150					0	0	1	0	0
HCST	10870	broad.mit.edu	37	19	36394806	36394806	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36394806G>T	ENST00000246551.4	+	3	355		c.e3+1		HCST_ENST00000437550.2_Splice_Site			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer						regulation of immune response	integral to membrane|plasma membrane		p.?(1)		lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGCCCAAGGTGAGGGCGGA	0.716000													8	44					0.00307968	0.00327149	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181608	57181608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:57181608C>A	ENST00000504228.1	+	6	2045	c.1940C>A	c.(1939-1941)gCg>gAg	p.A647E	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A647E|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A640E			Q6ZU35	K1211_HUMAN	KIAA1211	647										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GACGCGAGGGCGGGCAGCGGG	0.672000													6	77					3.09899e-07	3.9395e-07	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48056062	48056062	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:48056062G>T	ENST00000316364.5	+	10	1202	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	SEMA6D_ENST00000536845.2_Missense_Mutation_p.V255L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V255L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.V255L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V255L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V255L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V255L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V255L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V255L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V255L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V255L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V255L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	255	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V255L(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTATTCCCGCGTGGCCCGCAT	0.498000													35	280					2.32173e-10	3.33461e-10	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35731613	35731613	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:35731613G>T	ENST00000187397.4	+	8	982	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	ARPP21_ENST00000444190.1_Missense_Mutation_p.D176Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.D176Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.D176Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.D176Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	176	R3H.					cytoplasm	nucleic acid binding	p.D176Y(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGAAATTATTGATTTCATTGC	0.313000													9	71					2.17888e-05	2.53377e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9065903	9065903	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9065903T>A	ENST00000397910.4	-	3	21746	c.21543A>T	c.(21541-21543)acA>acT	p.T7181T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7183	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7181T(2)|p.T2814T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGACGCTGCTGTGTTTGTGG	0.488000													23	169					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103280200	103280200	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:103280200G>T	ENST00000376052.3	+	8	958	c.942G>T	c.(940-942)atG>atT	p.M314I	TPP2_ENST00000376065.4_Missense_Mutation_p.M314I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	314					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTAATAGATGATAGAAGTTA	0.353000													8	79					1.26484e-09	1.75506e-09	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167168062	167168062	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:167168062C>G	ENST00000375387.4	-	2	545	c.205G>C	c.(205-207)Ggc>Cgc	p.G69R	SCN9A_ENST00000409672.1_Missense_Mutation_p.G69R|SCN9A_ENST00000303354.6_Missense_Mutation_p.G69R|SCN9A_ENST00000409435.1_Missense_Mutation_p.G69R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	69						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G69R(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GACACCATGCCGGGAGGAATG	0.483000													26	147					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12846933	12846933	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:12846933G>T	ENST00000379672.5	+	9	980	c.680G>T	c.(679-681)aGg>aTg	p.R227M	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R227M|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R227M	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	227	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R227M(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAATACCACAGGAAGTCCCTG	0.537000													54	169					3.85841e-42	8.04437e-42	1	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178634575	178634575	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:178634575G>A	ENST00000251582.7	-	4	931	c.830C>T	c.(829-831)tCt>tTt	p.S277F	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S277F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	277	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S277F(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGCACCACAGAGTCATCCAC	0.627000													45	273					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396583	197396583	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:197396583G>A	ENST00000367397.1	+	3	1129		c.e3-1		CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000367400.3_Splice_Site			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGACATTGAAGAGTATGTGGC	0.413000													10	71					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53932273	53932273	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:53932273C>A	ENST00000371445.3	+	4	1022	c.967C>A	c.(967-969)Cag>Aag	p.Q323K		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	323					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.Q323K(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CACAGATGACCAGGATGCAGA	0.498000													142	534					1.4361e-73	3.05638e-73	1	1	0
NRL	4901	broad.mit.edu	37	14	24551747	24551747	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:24551747G>T	ENST00000561028.1	-	2	630	c.311C>A	c.(310-312)cCa>cAa	p.P104Q	NRL_ENST00000397002.2_Missense_Mutation_p.P104Q|NRL_ENST00000396997.1_Missense_Mutation_p.P104Q			P54845	NRL_HUMAN	neural retina leucine zipper	104					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	p.P104Q(1)		lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		AACAGGGACTGGGCCCTGACC	0.657000													21	112					8.10497e-08	1.05322e-07	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73051452	73051452	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:73051452C>A	ENST00000335350.6	+	10	1974	c.1558C>A	c.(1558-1560)Cac>Aac	p.H520N	UNC5B_ENST00000373192.4_Missense_Mutation_p.H509N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	520					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.H520N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCGGGACACCCACTTCCTGCA	0.697000													24	111					3.6726e-16	6.23353e-16	1	1	0
OTOA	146183	broad.mit.edu	37	16	21726422	21726422	+	Silent	SNP	C	C	A	rs151328702		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21726422C>A	ENST00000388958.3	+	13	1438	c.1437C>A	c.(1435-1437)tcC>tcA	p.S479S	OTOA_ENST00000388957.3_Silent_p.S155S|OTOA_ENST00000388956.4_Silent_p.S400S|OTOA_ENST00000286149.4_Silent_p.S493S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	493					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.S479S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTGCCGTCTCCCAGTATGTAT	0.572000													33	571					6.70999e-13	1.049e-12	1	1	0
CDH11	1009	broad.mit.edu	37	16	65005524	65005524	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:65005524C>T	ENST00000394156.3	-	11	2053	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	CDH11_ENST00000566827.1_Missense_Mutation_p.E408K|CDH11_ENST00000268603.4_Missense_Mutation_p.E534K			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	534	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E534K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGAATGATTTCAGGGGGTAGG	0.423000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			12	110					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15483986	15483986	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:15483986C>T	ENST00000269701.2	-	5	597	c.537G>A	c.(535-537)gaG>gaA	p.E179E		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	179					signal transduction	nuclear matrix		p.E179E(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGGAGCCCCGCTCCCGGGCTG	0.677000													4	85					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140811693	140811693	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:140811693A>T	ENST00000277549.5	+	0	921				CACNA1B_ENST00000277551.2_Splice_Site_p.D259_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.D259_splice|CACNA1B_ENST00000371372.1_Splice_Site_p.D259_splice|CACNA1B_ENST00000371357.1_Splice_Site_p.D259_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.D259_splice			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.D259V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCTTGCAGATGCGGAGCCC	0.617000													13	97					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166165726	166165726	+	Missense_Mutation	SNP	C	C	G	rs2228981		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166165726C>G	ENST00000357398.3	+	6	947	c.657C>G	c.(655-657)ttC>ttG	p.F219L	SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.F219L|SCN2A_ENST00000375437.2_Intron			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	219					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTCGAACTTTCAGAGTCTTGA	0.358000													9	142					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452700	106452700	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:106452700C>T	ENST00000390594.2	-	0	385																											GCCGTGTCGTCAGATCTCAGC	0.562000													93	357					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114254368	114254368	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:114254368C>A	ENST00000369604.1	-	10	1530	c.1047_splice	c.e10+1	p.Q349_splice	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000393357.2_Splice_Site_p.Q349_splice|PHTF1_ENST00000369596.2_Splice_Site_p.Q296_splice|PHTF1_ENST00000369598.1_Splice_Site_p.Q304_splice|PHTF1_ENST00000369600.1_Splice_Site_p.Q296_splice|PHTF1_ENST00000357783.2_Splice_Site_p.Q349_splice			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	349						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATACTTTACCTGGCTGAAGG	0.363000													6	97					0.00198382	0.00211837	1	1	0
CD109	135228	broad.mit.edu	37	6	74520799	74520799	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:74520799G>T	ENST00000437994.2	+	28	4062	c.3631G>T	c.(3631-3633)Ggg>Tgg	p.G1211W	CD109_ENST00000422508.2_Missense_Mutation_p.G1134W|CD109_ENST00000287097.5_Missense_Mutation_p.G1211W	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1211						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCGTGACGGGGCCTAGCTC	0.458000													8	97					3.09899e-07	3.9395e-07	1	1	0
GBA2	57704	broad.mit.edu	37	9	35738836	35738836	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:35738836C>T	ENST00000378094.4	-	12	2373	c.1860G>A	c.(1858-1860)ctG>ctA	p.L620L	GBA2_ENST00000378103.3_Silent_p.L620L|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Silent_p.L626L			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	620					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	p.L620L(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTTCAGGTTCAGGTCCTTCC	0.488000													9	75					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218249	130218249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:130218249C>A	ENST00000276211.5	+	5	961	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L194M|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L70M	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	206					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.L206M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGCAGACCCTGCAGCTTTC	0.473000													17	30					3.62473e-10	5.15182e-10	1	1	0
ACMSD	130013	broad.mit.edu	37	2	135628551	135628551	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:135628551C>G	ENST00000356140.5	+	7	733	c.597C>G	c.(595-597)acC>acG	p.T199T	AC016725.4_ENST00000413962.1_RNA|AC016725.4_ENST00000428857.1_RNA|ACMSD_ENST00000392928.1_Silent_p.T141T|AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000283054.4_Silent_p.T141T|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	199					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	p.T199T(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CAGCAGAGACCACCATAGCCA	0.448000													11	85					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990774	39990774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:39990774C>A	ENST00000332312.3	-	4	1627	c.1435G>T	c.(1435-1437)Gag>Tag	p.E479*		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	479						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCTAGGCGCTCCTCGAGGCTC	0.637000													13	193					0.0135373	0.014076	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44661726	44661726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44661726G>T	ENST00000426739.2	+	6	1815	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N	ZNF234_ENST00000592437.1_Missense_Mutation_p.K519N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K519N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGTGTGGGAAGGTCTTCAGTC	0.458000													38	135					8.69298e-16	1.46033e-15	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18250693	18250693	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:18250693A>T	ENST00000377369.2	+	3	718	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S15C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S149C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S149C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	149					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.S149C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAGCCTACTGAGCCTCAGGCA	0.398000													37	121					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140284952	140284952	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:140284952G>A	ENST00000458420.3	+	17	2915	c.2725G>A	c.(2725-2727)Gcc>Acc	p.A909T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	909	Glu-rich (highly acidic).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A909T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGAGGAAGAAGCCGAGGAAGA	0.542000										HNSCC(16;0.037)			14	58					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26431801	26431801	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26431801G>T	ENST00000466808.2	+	0	1749																		p.R573_E574>S*(1)									CCAGGCATAGGGAACTAGTTG	0.478000													31	194					1.22384e-17	2.14084e-17	1	1	0
EMR3	84658	broad.mit.edu	37	19	14765950	14765950	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:14765950A>T	ENST00000253673.5	-	6	521	c.421T>A	c.(421-423)Tca>Aca	p.S141T	EMR3_ENST00000443157.2_Intron|EMR3_ENST00000344373.4_Missense_Mutation_p.S89T|EMR3_ENST00000599900.1_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	141					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S141T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTGAGAAGTGACTCAAATTTG	0.368000													8	114					0	0	1	0	0
GJB3	2707	broad.mit.edu	37	1	35250728	35250728	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:35250728A>G	ENST00000373366.2	+	2	980	c.365A>G	c.(364-366)aAg>aGg	p.K122R	GJB3_ENST00000373362.3_Missense_Mutation_p.K122R|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	122					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AACGCAGGCAAGAAGCACGGA	0.607000													12	200					0	0	1	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271483	26271483	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26271483G>T	ENST00000305910.3	-	1	129	c.130C>A	c.(130-132)Ccc>Acc	p.P44T		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	44					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.P44T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						ACGGTGCCGGGACGGTAGCGA	0.642000													24	230					3.08376e-08	4.06315e-08	1	1	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7899820	7899820	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:7899820C>T	ENST00000539054.1	-	3	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K	TXNDC5_ENST00000379757.4_Missense_Mutation_p.E170K|BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.E62K|TXNDC5_ENST00000473453.1_Missense_Mutation_p.E62K														p.E170K(1)									ACTGGCTCCTCGTTCAGTGTC	0.552000													14	114					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78850213	78850213	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:78850213C>A	ENST00000286627.5	-	10	2231	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	KCNMA1_ENST00000372443.1_Missense_Mutation_p.D427Y|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D427Y|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D427Y|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D427Y|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D427Y|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D427Y|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D427Y	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	427	RCK N-terminal.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.K426_D427>NY(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGCAGAAAGTCCTTCAGGAAG	0.527000													34	132					8.16277e-20	1.48063e-19	1	1	0
PTGFRN	5738	broad.mit.edu	37	1	117527322	117527322	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:117527322T>C	ENST00000393203.2	+	8	2335	c.2188T>C	c.(2188-2190)Tcc>Ccc	p.S730P		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	730	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.S730P(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTTTGATGTGTCCTGGTTTGC	0.552000													17	119					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986489	21986489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:21986489G>T	ENST00000381418.4	-	2	1675	c.195C>A	c.(193-195)ttC>ttA	p.F65L	HR_ENST00000312841.8_Missense_Mutation_p.F65L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	65							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.F65L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGCCCTGGGGGAAGCCAGGGG	0.662000													20	118					2.4624e-09	3.38046e-09	1	1	0
MARCH4	57574	broad.mit.edu	37	2	217124200	217124200	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:217124200G>T	ENST00000273067.4	-	4	2834	c.1068C>A	c.(1066-1068)gcC>gcA	p.A356A		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	356						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.A356A(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCTGCTCAGGGGCAGGGGTGC	0.637000													10	85					0.361761	0.363388	1	1	0
OSBPL3	26031	broad.mit.edu	37	7	24870410	24870410	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:24870410C>T	ENST00000313367.2	-	16	2312	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	OSBPL3_ENST00000431825.2_Missense_Mutation_p.G554S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.G590S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.G554S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.G590S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.G585S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.G585S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	621					lipid transport		lipid binding|protein binding	p.G621S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AACTGGAAGCCCTTGTCCTCC	0.418000													39	489					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530532	245530532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:245530532G>T	ENST00000407071.2	+	3	1302	c.862G>T	c.(862-864)Gcc>Tcc	p.A288S	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	288					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A288S(2)|p.A88S(1)		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)			AACCCACCAGGCCAAGGTCAG	0.602000													12	38					7.03913e-09	9.48332e-09	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53644083	53644083	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:53644083C>A	ENST00000342160.3	-	20	2262	c.1805G>T	c.(1804-1806)gGc>gTc	p.G602V	HUWE1_ENST00000262854.6_Missense_Mutation_p.G602V|HUWE1_ENST00000218328.8_Missense_Mutation_p.G602V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	602					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.G602V(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGGAGGGAGCCAAGGACTTC	0.453000													9	22					0.00829132	0.00865426	1	1	0
ZNF432	9668	broad.mit.edu	37	19	52537917	52537917	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52537917G>C	ENST00000594154.1	-	5	1227	c.1015C>G	c.(1015-1017)Cat>Gat	p.H339D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H339D			O94892	ZN432_HUMAN	zinc finger protein 432	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H339D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCCTGTATGAGTTCGCTGA	0.408000													44	193					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112832511	112832511	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:112832511G>T	ENST00000283206.4	+	5	842	c.473G>T	c.(472-474)aGa>aTa	p.R158I		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	158						integral to membrane		p.R158I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATAAATATCAGAAATGTTTCA	0.279000													20	49					7.45023e-12	1.1274e-11	1	1	0
DST	667	broad.mit.edu	37	6	56371471	56371471	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:56371471T>A	ENST00000370754.5	-	76	19262	c.19263A>T	c.(19261-19263)atA>atT	p.I6421I	DST_ENST00000244364.6_Silent_p.I3829I|DST_ENST00000361203.3_Silent_p.I6132I|DST_ENST00000421834.2_Silent_p.I4155I|DST_ENST00000446842.2_Silent_p.I5917I|DST_ENST00000370769.4_Silent_p.I6243I|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Silent_p.I4046I			Q03001	DYST_HUMAN	dystonin	6241					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.I6243I(1)|p.I3829I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTACCTCATCTATACTCTTCT	0.358000													5	107					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160968856	160968856	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:160968856G>T	ENST00000447678.1	-	33	5389	c.5269C>A	c.(5269-5271)Cca>Aca	p.P1757T	LPA_ENST00000316300.5_Missense_Mutation_p.P1757T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4265	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P1757T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTTGTCCCTGGAATGAACGTG	0.493000													9	133					0.000274275	0.000302072	1	1	0
IQGAP3	128239	broad.mit.edu	37	1	156533420	156533420	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:156533420A>G	ENST00000361170.2	-	7	554	c.544T>C	c.(544-546)Tat>Cat	p.Y182H		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	182					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGGCCATATTTGGCCAGT	0.602000													7	51					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137664635	137664635	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137664635G>A	ENST00000371817.3	+	26	2700		c.e26-1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTTGTGACAGGGACACCCTG	0.587000													34	169					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42643652	42643652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:42643652G>T	ENST00000282030.5	+	6	5076	c.4780G>T	c.(4780-4782)Gtc>Ttc	p.V1594F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1594						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGAGCGAGGTCCTTCCCTA	0.687000									Schinzel-Giedion syndrome				4	19					0.0215528	0.0221851	1	1	0
TMEM198	130612	broad.mit.edu	37	2	220413975	220413975	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220413975C>A	ENST00000344458.2	+	5	1429	c.844C>A	c.(844-846)Ctc>Atc	p.L282I	TMEM198_ENST00000373883.3_Missense_Mutation_p.L282I			Q66K66	TM198_HUMAN	transmembrane protein 198	282	Arg-rich.					integral to membrane		p.L282I(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCGGGCTCCCCTCAGAGGTCC	0.642000													35	186					1.59361e-14	2.59543e-14	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75892889	75892889	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:75892889G>A	ENST00000322507.8	-	10	2077	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	COL12A1_ENST00000483888.2_Missense_Mutation_p.P590S|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P590S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	590	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTGCAGGAGGAGAGGCAATA	0.428000													8	126					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16590406	16590406	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:16590406A>T	ENST00000502640.1	-	4	606	c.458T>A	c.(457-459)aTg>aAg	p.M153K	LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Missense_Mutation_p.M29K|LDB2_ENST00000304523.5_Missense_Mutation_p.M153K|LDB2_ENST00000441778.2_Missense_Mutation_p.M153K|LDB2_ENST00000515064.1_Missense_Mutation_p.M153K			O43679	LDB2_HUMAN	LIM domain binding 2	153							LIM domain binding|transcription cofactor activity	p.M153K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTTGATTCTCATGAGATCATC	0.408000													35	137					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691447	3691447	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:3691447C>T	ENST00000403096.3	+	6	968	c.477C>T	c.(475-477)gcC>gcT	p.A159A	COLEC11_ENST00000404205.1_Silent_p.A111A|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.A199A|COLEC11_ENST00000402794.1_Silent_p.A135A|COLEC11_ENST00000382062.2_Silent_p.A161A|COLEC11_ENST00000402922.1_Silent_p.A135A|COLEC11_ENST00000349077.4_Silent_p.A185A|COLEC11_ENST00000236693.7_Silent_p.A182A	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	185	C-type lectin.					collagen	mannose binding	p.A182A(1)|p.A199A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ACGAGGCTGCCAATGGCCTGA	0.657000													13	93					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25307561	25307561	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25307561C>A	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA																							TCGTTCTCATCAGAACTGAGG	0.512000													24	256					1.38267e-23	2.6162e-23	1	1	0
UBR2	23304	broad.mit.edu	37	6	42650816	42650816	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:42650816A>T	ENST00000372899.1	+	43	5000	c.4742A>T	c.(4741-4743)aAa>aTa	p.K1581I	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.K1581I	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1581					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.K1581I(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGTGAAGTTAAAAGATATCTA	0.373000													5	98					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923553	43923553	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:43923553C>A	ENST00000329196.5	+	1	1298	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	427						integral to membrane	aspartic-type endopeptidase activity										TCAAAGTGCCCCGGCTAAGAG	0.587000													9	199					3.86212e-05	4.42621e-05	1	1	0
HDHD1	8226	broad.mit.edu	37	X	6995376	6995376	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:6995376C>A	ENST00000381077.5	-	3	471	c.395G>T	c.(394-396)aGc>aTc	p.S132I	HDHD1_ENST00000540122.1_Missense_Mutation_p.S132I|HDHD1_ENST00000412827.2_Missense_Mutation_p.S89I|HDHD1_ENST00000424830.2_Missense_Mutation_p.S155I	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	132					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						GGAAAACAAGCTGAAGAACTC	0.567000													3	24					6.4e-05	7.27191e-05	1	1	0
ACTL9	284382	broad.mit.edu	37	19	8807930	8807930	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:8807930G>T	ENST00000324436.3	-	1	1242	c.1122C>A	c.(1120-1122)ccC>ccA	p.P374P		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	374						cytoplasm|cytoskeleton		p.P374P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AATTCCTGGTGGGCTGGGCAG	0.682000													10	70					3.07112e-06	3.71743e-06	1	1	0
NAT2	10	broad.mit.edu	37	8	18257576	18257576	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:18257576G>C	ENST00000286479.3	+	2	170	c.63G>C	c.(61-63)ttG>ttC	p.L21F	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	21					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.L21F(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AATTGGACTTGGAAACATTAA	0.398000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				88	166					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337437	104337437	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:104337437G>T	ENST00000358755.4	+	4	1420	c.1103G>T	c.(1102-1104)cGc>cTc	p.R368L	FZD6_ENST00000523739.1_Missense_Mutation_p.R336L|FZD6_ENST00000522566.1_Missense_Mutation_p.R368L|FZD6_ENST00000540287.1_Missense_Mutation_p.R63L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	368					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGCTTCTCGCTACTTTGTA	0.418000													13	950					4.3838e-07	5.52985e-07	1	1	0
MEDAG	84935	broad.mit.edu	37	13	31495227	31495227	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:31495227C>A	ENST00000380482.4	+	3	790	c.465C>A	c.(463-465)gtC>gtA	p.V155V	TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		TGGACATGGTCATCTCCTCAG	0.473000													7	59					0.000274275	0.000302072	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363680	22363680	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:22363680G>C	ENST00000397121.2	-	3	1156	c.839C>G	c.(838-840)cCc>cGc	p.P280R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P280R(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGCTTCTCTTC	0.413000													17	153					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85985202	85985202	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:85985202C>A	ENST00000372113.4	-	1	80	c.75G>T	c.(73-75)ctG>ctT	p.L25L	LRIT2_ENST00000538192.1_Silent_p.L25L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	25	LRRNT.					integral to membrane		p.L25L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGCATCCTGGCAGACAGAAAG	0.468000													18	55					0.000175454	0.00019596	1	1	0
OVOL1	5017	broad.mit.edu	37	11	65554911	65554911	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:65554911C>A	ENST00000335987.3	+	1	419	c.67C>A	c.(67-69)Ccc>Acc	p.P23T		NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	23					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P23T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GAGCGAGCTCCCCGACGAGGA	0.716000													7	18					0.27861	0.279978	1	1	0
PALD1	27143	broad.mit.edu	37	10	72285877	72285877	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:72285877C>A	ENST00000263563.6	+	2	438	c.170C>A	c.(169-171)gCc>gAc	p.A57D		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.A57E(1)									AACAAGGTGGCCCCTGTTGTG	0.602000													19	77					0.00332997	0.00353279	1	1	0
GJA3	2700	broad.mit.edu	37	13	20717004	20717004	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:20717004C>T	ENST00000241125.3	-	2	600	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	142					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCGCCCCGGCCATGCGCACC	0.642000													3	31					0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23587909	23587909	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:23587909C>A	ENST00000206513.5	-	1	916	c.392G>T	c.(391-393)cGa>cTa	p.R131L		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	131						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		GCTGGCAGCTCGGCTGCCCTC	0.687000													10	48					0.00621372	0.00650784	1	1	0
ETV5	2119	broad.mit.edu	37	3	185798879	185798879	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:185798879C>A	ENST00000306376.5	-	6	564	c.318G>T	c.(316-318)caG>caT	p.Q106H	ETV5_ENST00000537818.1_Missense_Mutation_p.Q148H|ETV5_ENST00000434744.1_Missense_Mutation_p.Q106H	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	106					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q106H(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CACCAAGAGCCTGCTCATGGC	0.532000			T	"""TMPRSS2, SCL45A3"""	Prostate								60	434					7.82978e-24	1.48379e-23	1	1	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119364	32119364	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:32119364A>T	ENST00000333892.2	-	1	187	c.157T>A	c.(157-159)Tac>Aac	p.Y53N		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	53						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						ccagagccgtatccacagcca	0.522000													22	144					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173916400	173916400	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:173916400C>G	ENST00000264111.6	+	31	3125	c.2938C>G	c.(2938-2940)Cag>Gag	p.Q980E	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Q913E|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.Q981E|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.Q837E|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.Q810E|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.Q761E|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.Q828E|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.Q828E			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	981	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	p.Q981E(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAAGAACCATCAGGATGTCCG	0.388000													10	98					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144947335	144947335	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:144947335C>A	ENST00000525985.1	-	2	158	c.87G>T	c.(85-87)acG>acT	p.T29T				P58107	EPIPL_HUMAN	epiplakin 1	29						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCTCCCAGCGTGGCTGCCA	0.677000													7	46					1.12685e-05	1.33376e-05	1	1	0
SBNO1	55206	broad.mit.edu	37	12	123815810	123815810	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:123815810A>C	ENST00000420886.2	-	7	1021	c.1022T>G	c.(1021-1023)tTg>tGg	p.L341W	SBNO1_ENST00000267176.4_Missense_Mutation_p.L340W|SBNO1_ENST00000602750.1_Missense_Mutation_p.L340W|SBNO1_ENST00000602398.1_Missense_Mutation_p.L341W	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	341							ATP binding|DNA binding|hydrolase activity	p.L340W(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTTCTACTCAACAAATAATT	0.463000													19	158					0	0	1	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26939489	26939489	+	RNA	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:26939489T>C	ENST00000544033.1	+	0	5422					NR_026794.1																						TCAGGACCTATAAATGGCACC	0.448000													35	208					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143092462	143092462	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:143092462C>A	ENST00000275815.3	-	12	2119	c.2033G>T	c.(2032-2034)gGc>gTc	p.G678V		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	678	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G678V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTAAACTGGCCCATGATAGT	0.557000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	711					2.40228e-13	3.81383e-13	1	1	0
NELFA	7469	broad.mit.edu	37	4	2010531	2010531	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:2010531C>T	ENST00000382882.3	-	1	1306	c.189G>A	c.(187-189)gtG>gtA	p.V63V	NELFA_ENST00000542778.1_5'UTR|NELFA_ENST00000411638.1_Silent_p.V52V	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		ACTTGAGCTTCACTGCCGACG	0.687000													6	57					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653030	55653030	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55653030C>A	ENST00000449290.2	+	2	218	c.126C>A	c.(124-126)aaC>aaA	p.N42K		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	42						intracellular	zinc ion binding	p.N42K(1)									TGTACCTCAACTGGCAAGACA	0.507000													17	82					2.23348e-06	2.7223e-06	1	1	0
SPRR3	6707	broad.mit.edu	37	1	152975691	152975691	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152975691C>T	ENST00000331860.3	+	3	345	c.195C>T	c.(193-195)ggC>ggT	p.G65G	SPRR3_ENST00000295367.4_Silent_p.G65G|SPRR3_ENST00000542696.1_Silent_p.G65G	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	65	14 X 8 AA approximate tandem repeats.			Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802).	keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.557000													5	153					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013214	103013214	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:103013214G>A	ENST00000409599.1	+	12	1850	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	IL18R1_ENST00000233957.1_Silent_p.L498L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	498	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.L498L(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGAGTTCTGAAGTGGAAGG	0.363000													28	161					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753939	140753939	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140753939G>T	ENST00000517434.1	+	1	289	c.289G>T	c.(289-291)Gct>Tct	p.A97S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.A97S(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTCTGTGCTCAGAGCCC	0.512000													29	123					1.17739e-12	1.82555e-12	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153182038	153182038	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:153182038C>T	ENST00000285900.5	+	15	2851	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S	GRIA1_ENST00000448073.4_Silent_p.S846S|GRIA1_ENST00000518783.1_Silent_p.S846S|GRIA1_ENST00000521843.2_Silent_p.S767S|GRIA1_ENST00000340592.5_Silent_p.S836S|GRIA1_ENST00000518142.1_Silent_p.S756S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	836					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.S836S(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTAGTGAATCCAAGCGGATGA	0.527000													31	401					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8376609	8376609	+	Nonsense_Mutation	SNP	T	T	A	rs144200611		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:8376609T>A	ENST00000381196.4	-	35	5047	c.4504A>T	c.(4504-4506)Aag>Tag	p.K1502*	PTPRD_ENST00000397611.3_Nonsense_Mutation_p.K1092*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.K1095*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.K1095*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.K1502*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.K1096*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.K1480*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.K1489*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.K1095*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.K1092*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.K1502*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1502	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K1502*(2)|p.K973*(1)|p.K1096*(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGCAAACCTTGTAAAGTGCA	0.403000										TSP Lung(15;0.13)			47	54					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940130	22940130	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:22940130C>G	ENST00000397104.3	-	6	2200	c.2201G>C	c.(2200-2202)aGa>aCa	p.R734T	ZNF99_ENST00000596209.1_Missense_Mutation_p.E861Q					zinc finger protein 99									p.R734T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATGTTTTCTAAGGGCTGA	0.348000													11	101					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452758	106452758	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:106452758G>T	ENST00000390594.2	-	0	327																											CCCTGGTCATGGTGACCCTGC	0.562000													102	327					1.39607e-43	2.92555e-43	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31021302	31021302	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:31021302G>T	ENST00000375687.4	+	12	1725	c.1301G>T	c.(1300-1302)gGg>gTg	p.G434V	ASXL1_ENST00000306058.5_Missense_Mutation_p.G429V	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	434					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G434V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACAAGCAGGGGTTGCTAAG	0.532000			"""F, N, Mis"""		"""MDS, CMML"""								63	215					6.52717e-41	1.35969e-40	1	1	0
LOC440040	440040	broad.mit.edu	37	11	49831929	49831929	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:49831929C>A	ENST00000527477.1	+	0	2154																											GTTATTAAAACTCATTTATTG	0.294000													3	39					0.004672	0.00491621	1	1	0
ZNF317	57693	broad.mit.edu	37	19	9269576	9269576	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9269576G>T	ENST00000247956.6	+	6	765	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	ZNF317_ENST00000360385.3_Missense_Mutation_p.V122L	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V154L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCCCAGTGGTGTGACGATGGT	0.443000													11	77					0.00010058	0.000113314	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121651806	121651806	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:121651806G>T	ENST00000393386.2	+	12	3117	c.2706G>T	c.(2704-2706)acG>acT	p.T902T	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	902					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.T902T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTATAAAACGCTTATGTTTT	0.463000													18	83					5.03518e-11	7.44516e-11	1	1	0
CSRNP3	80034	broad.mit.edu	37	2	166536110	166536110	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166536110G>C	ENST00000314499.7	+	7	1981	c.1605G>C	c.(1603-1605)ttG>ttC	p.L535F	CSRNP3_ENST00000342316.4_Missense_Mutation_p.L535F|CSRNP3_ENST00000409420.1_Missense_Mutation_p.L567F	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	535					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L535F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACTCATACTTGAAAGGCCCCT	0.453000													14	157					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32942346	32942346	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:32942346C>T	ENST00000395289.2	+	3	1738	c.137C>T	c.(136-138)cCc>cTc	p.P46L	BRD2_ENST00000374831.4_Missense_Mutation_p.P46L|BRD2_ENST00000449085.2_5'UTR|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000395287.1_Missense_Mutation_p.P46L|BRD2_ENST00000374825.4_Missense_Mutation_p.P46L			P25440	BRD2_HUMAN	bromodomain containing 2	46					spermatogenesis	nucleus	protein serine/threonine kinase activity	p.P46L(1)		central_nervous_system(3)|stomach(2)	5						TTTGAGAGCCCCACAATGGCT	0.587000													17	162					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590170	140590170	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140590170C>A	ENST00000239450.2	+	1	1880	c.1691C>A	c.(1690-1692)cCg>cAg	p.P564Q	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P227Q	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		564					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P564L(1)|p.P564Q(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGTACCCGCTGCAGAAC	0.716000													38	172					1.62957e-23	3.07864e-23	1	1	0
RALYL	138046	broad.mit.edu	37	8	85441701	85441701	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:85441701G>T	ENST00000521268.1	+	2	1250	c.145G>T	c.(145-147)Gtt>Ttt	p.V49F	RALYL_ENST00000518566.1_Missense_Mutation_p.V49F|RALYL_ENST00000517638.1_Missense_Mutation_p.V62F|RALYL_ENST00000521695.1_Missense_Mutation_p.V49F|RALYL_ENST00000522455.1_Missense_Mutation_p.V49F	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	49	RRM.						identical protein binding|nucleotide binding|RNA binding	p.V49F(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGGAAAAATAGTTGGATGTTC	0.438000													10	65					2.80697e-09	3.83849e-09	1	1	0
DLX6	1750	broad.mit.edu	37	7	96637038	96637038	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:96637038C>G	ENST00000518156.2	+	2	955	c.525C>G	c.(523-525)tcC>tcG	p.S175S	DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Silent_p.S147S|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Silent_p.S47S|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	57					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S147S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCATTTATTCCAGCCTGCAGC	0.458000													9	38					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906024	5906024	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5906024C>A	ENST00000316987.2	+	1	524	c.502C>A	c.(502-504)Ctg>Atg	p.L168M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L168M(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTCTGCGTCTGCCATTCTG	0.458000													21	161					3.5997e-14	5.81636e-14	1	1	0
TMEM72	643236	broad.mit.edu	37	10	45430239	45430239	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:45430239C>T	ENST00000544540.1	+	4	615	c.131C>T	c.(130-132)tCt>tTt	p.S44F	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	162						integral to membrane		p.S162F(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ACCACCGGCTCTGGGGACACA	0.587000													25	402					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33098606	33098606	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:33098606C>T	ENST00000306065.4	-	23	2466	c.2308G>A	c.(2308-2310)Gca>Aca	p.A770T		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	770					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.A770T(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTGGCACCTGCGTTGGCCCCG	0.692000													11	41					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33648392	33648392	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:33648392G>T	ENST00000374316.5	+	34	5471	c.4411G>T	c.(4411-4413)Gtt>Ttt	p.V1471F	ITPR3_ENST00000605930.1_Missense_Mutation_p.V1471F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1471					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.V1471F(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGTGCTGAGCGTTGTGCTGGA	0.612000													51	137					2.74695e-27	5.36716e-27	1	1	0
HGF	3082	broad.mit.edu	37	7	81355333	81355333	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:81355333C>A	ENST00000222390.5	-	9	1267	c.1040_splice	c.e9-1	p.K347_splice	HGF_ENST00000457544.2_Splice_Site_p.K342_splice	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	347	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.K347N(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTCGTAGGTCCCTATTGAGAA	0.408000													17	99					8.00594e-06	9.53107e-06	1	1	0
IQSEC3	440073	broad.mit.edu	37	12	247571	247571	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:247571C>A	ENST00000538872.1	+	4	1160	c.1042C>A	c.(1042-1044)Cca>Aca	p.P348T	IQSEC3_ENST00000382841.2_Missense_Mutation_p.P45T|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P348T|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	348					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.P348T(1)|p.P45T(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAGCCGCCTGCCACGGCGGAT	0.667000													8	48					0.00307968	0.00327149	1	1	0
BICC1	80114	broad.mit.edu	37	10	60573624	60573624	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:60573624G>C	ENST00000373886.3	+	18	2415	c.2411G>C	c.(2410-2412)cGt>cCt	p.R804P	BICC1_ENST00000263103.1_Missense_Mutation_p.R430P	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	804					multicellular organismal development		RNA binding	p.R804P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCCAACAGTCGTGAGCACTTG	0.473000													6	181					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21854814	21854814	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:21854814C>A	ENST00000382254.1	-	7	1698	c.612G>T	c.(610-612)caG>caT	p.Q204H	CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.Q204H|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	204	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q204H(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAGGTTGTCCCTGAAGAATGC	0.388000										HNSCC(59;0.17)			24	100					7.92952e-12	1.19625e-11	1	1	0
FCRL4	83417	broad.mit.edu	37	1	157555977	157555977	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:157555977C>G	ENST00000271532.1	-	6	1251	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	372	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.V372V(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACATTCAGCACCATGCTCT	0.493000											OREG0007229	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=FCRL4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	39	161					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754890	29754890	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:29754890C>A	ENST00000389048.3	-	4	1951	c.1045G>T	c.(1045-1047)Gtc>Ttc	p.V349F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	349	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.V349F(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGCACCGAGACGGCCAGTGTG	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				12	172					6.40141e-05	7.27191e-05	1	1	0
SMAD2	4087	broad.mit.edu	37	18	45368312	45368312	+	Silent	SNP	C	C	A	rs148531026		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:45368312C>A	ENST00000402690.2	-	11	1684	c.1290G>T	c.(1288-1290)acG>acT	p.T430T	SMAD2_ENST00000356825.4_Silent_p.T400T|SMAD2_ENST00000586040.1_Silent_p.T400T|SMAD2_ENST00000262160.6_Silent_p.T430T	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	430	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.T430T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TACTTGTTACCGTCTGCCTTC	0.398000													7	82					0.0293803	0.0301161	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10465814	10465814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:10465814C>A	ENST00000382483.3	-	4	6017	c.5794G>T	c.(5794-5796)Gag>Tag	p.E1932*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1932					intracellular signal transduction			p.E1932*(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACTCTGGCTCGTCCTCCCCT	0.607000													180	367					5.86173e-92	1.25295e-91	1	1	0
RXFP3	51289	broad.mit.edu	37	5	33937208	33937208	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:33937208C>A	ENST00000330120.3	+	1	718	c.363C>A	c.(361-363)gtC>gtA	p.V121V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	121						integral to plasma membrane	N-formyl peptide receptor activity	p.V121V(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACCTCTTCGTCACCAACCTGG	0.592000													32	181					3.03874e-20	5.53646e-20	1	1	0
SCN2A	6326	broad.mit.edu	37	2	166226697	166226697	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166226697A>T	ENST00000375437.2	+	20	4027	c.3737A>T	c.(3736-3738)gAc>gTc	p.D1246V	SCN2A_ENST00000283256.6_Missense_Mutation_p.D1246V|SCN2A_ENST00000375427.2_Missense_Mutation_p.D1246V|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1246V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1246					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D1246V(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATATGCTGACAAGGTTTTC	0.348000													60	218					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													6	107					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72744205	72744205	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:72744205G>C	ENST00000252037.4	+	4	387	c.318G>C	c.(316-318)gaG>gaC	p.E106D	FKBP6_ENST00000413573.2_Missense_Mutation_p.E76D|FKBP6_ENST00000431982.2_Missense_Mutation_p.E101D	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	106	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.E106D(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGGAGAGCTGGCCAGGT	0.542000													15	104					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717696	142717696	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:142717696C>A	ENST00000381779.4	-	2	1454	c.1229G>T	c.(1228-1230)aGc>aTc	p.S410I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S410I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S410I	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	410						integral to membrane		p.S410I(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AATTTGATTGCTGCCTAAATG	0.398000													31	122					1.75199e-13	2.78684e-13	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222067	140222067	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140222067C>A	ENST00000531613.1	+	1	1161	c.1161C>A	c.(1159-1161)tgC>tgA	p.C387*	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.C387*	NM_018911.2	NP_061734.1												p.C387*(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGACCTGCTCCCTGATGC	0.562000													89	355					1.92282e-43	4.02596e-43	1	1	0
OR4X1	390113	broad.mit.edu	37	11	48285915	48285915	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:48285915G>T	ENST00000320048.1	+	1	503	c.503G>T	c.(502-504)gGc>gTc	p.G168V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G168V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCGTTCTGTGGCCCCAACATC	0.562000													14	79					3.27435e-08	4.30043e-08	1	1	0
PDE7B	27115	broad.mit.edu	37	6	136512769	136512769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:136512769G>T	ENST00000308191.6	+	13	1447	c.1144G>T	c.(1144-1146)Gtg>Ttg	p.V382L	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	382	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GAGCTACATCGTGGAGCCGCT	0.587000													3	46					1.024e-07	1.32995e-07	1	1	0
FBLN1	2192	broad.mit.edu	37	22	45943050	45943050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:45943050C>A	ENST00000348697.2	+	12	1554	c.1407C>A	c.(1405-1407)taC>taA	p.Y469*	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000442170.2_Nonsense_Mutation_p.Y469*|FBLN1_ENST00000402984.3_Nonsense_Mutation_p.Y507*|FBLN1_ENST00000340923.5_Nonsense_Mutation_p.Y469*|FBLN1_ENST00000327858.6_Nonsense_Mutation_p.Y469*|FBLN1_ENST00000262722.7_Nonsense_Mutation_p.Y469*			P23142	FBLN1_HUMAN	fibulin 1	469	EGF-like 7; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.Y469*(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCGAGGCTACCAGCTCAGCG	0.597000													18	135					4.35082e-09	5.93645e-09	1	1	0
RFWD3	55159	broad.mit.edu	37	16	74662537	74662537	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:74662537C>T	ENST00000361070.4	-	11	1879	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	RFWD3_ENST00000571750.1_Missense_Mutation_p.M594I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	594					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	p.M594I(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CAGCTCTGGGCATGTATGACA	0.517000													29	339					0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74140716	74140716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:74140716C>A	ENST00000409624.1	+	7	1199	c.556C>A	c.(556-558)Ctc>Atc	p.L186I	ACTG2_ENST00000345517.3_Missense_Mutation_p.L186I|ACTG2_ENST00000409731.3_Missense_Mutation_p.L143I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	186					muscle contraction	cytoskeleton|cytosol	ATP binding	p.L186I(1)		large_intestine(3)|lung(14)|skin(1)	18						TGGCCGTGACCTCACGGACTA	0.547000													16	163					2.23348e-06	2.7223e-06	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247836020	247836020	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247836020C>A	ENST00000359688.2	-	1	345	c.324G>T	c.(322-324)gaG>gaT	p.E108D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E108D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAGAACCATCTCAGCTCCCA	0.468000													11	103					1.08611e-07	1.40246e-07	1	1	0
DTX3	196403	broad.mit.edu	37	12	58000747	58000747	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:58000747C>T	ENST00000548198.1	+	3	1605	c.101C>T	c.(100-102)cCa>cTa	p.P34L	DTX3_ENST00000548804.1_Missense_Mutation_p.P34L|DTX3_ENST00000337737.3_Missense_Mutation_p.P34L|DTX3_ENST00000551632.1_Missense_Mutation_p.P37L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	34					Notch signaling pathway	cytoplasm	zinc ion binding	p.P34L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAAGAGACCCCAGCCCGGCTG	0.587000													29	596					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87494826	87494826	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:87494826C>T	ENST00000296595.6	-	10	1180	c.1056G>A	c.(1054-1056)gcG>gcA	p.A352A	TMEM161B_ENST00000506536.1_Silent_p.A170A|TMEM161B_ENST00000511218.1_Silent_p.A143A|TMEM161B_ENST00000512429.1_Silent_p.A341A|TMEM161B_ENST00000514135.1_Silent_p.A352A	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	352						integral to membrane		p.A352A(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TTATTCGCCCCGCTTCTTTCT	0.383000													5	95					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979501	68979501	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:68979501G>T	ENST00000433211.1	-	6	881	c.707C>A	c.(706-708)gCa>gAa	p.A236E	CTNNA3_ENST00000545309.1_Missense_Mutation_p.A236E|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A236E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	236					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTCCTTGCTTGCTTTGAGGGA	0.443000													9	203					5.4927e-09	7.43255e-09	1	1	0
PARP15	165631	broad.mit.edu	37	3	122340333	122340333	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:122340333G>T	ENST00000483793.1	+	6	768	c.728G>T	c.(727-729)tGc>tTc	p.C243F	PARP15_ENST00000493645.1_Missense_Mutation_p.C135F|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.C135F|PARP15_ENST00000464300.2_Missense_Mutation_p.C369F			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	417	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.C369F(1)|p.C135F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CCAGGTGGATGCTTAAAGTGC	0.403000													13	130					4.3838e-07	5.52985e-07	1	1	0
VCAN	1462	broad.mit.edu	37	5	82835850	82835850	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82835850G>C	ENST00000265077.3	+	8	7593	c.7028G>C	c.(7027-7029)gGa>gCa	p.G2343A	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.G1356A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2343	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)		GGAGCAGAAGGACCCACGGTG	0.473000													9	119					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45013396	45013396	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:45013396G>T	ENST00000398000.2	-	4	794	c.720C>A	c.(718-720)tcC>tcA	p.S240S	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	240						extracellular region		p.S240*(1)|p.S240S(1)		endometrium(1)|large_intestine(2)|lung(4)	7						ATCTGCCACAGGAGCCCAGGT	0.587000													18	38					1.99824e-07	2.55608e-07	1	1	0
CBX8	57332	broad.mit.edu	37	17	77768754	77768754	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:77768754C>A	ENST00000269385.4	-	5	967	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	284					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGCTTTATCACCCTGGCCGGG	0.657000													9	28					0.000274275	0.000302072	1	1	0
USP43	124739	broad.mit.edu	37	17	9604947	9604947	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:9604947G>T	ENST00000570827.2	+	12	2082	c.1008G>T	c.(1006-1008)ccG>ccT	p.P336P	USP43_ENST00000570475.1_Silent_p.P647P|USP43_ENST00000285199.6_Silent_p.P647P			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	647					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCAGTTACCCGCTGGACTTCC	0.612000													3	24					0.115264	0.117124	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185556	127185556	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:127185556G>T	ENST00000371124.3	-	1	826	c.630C>A	c.(628-630)gcC>gcA	p.A210A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	210						cytoplasm|cytoskeleton		p.A210A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TATTTACCACGGCCTTGTTGA	0.532000													39	177					9.73076e-26	1.87001e-25	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64526878	64526878	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:64526878T>C	ENST00000498707.1	-	36	5756	c.5414A>G	c.(5413-5415)tAt>tGt	p.Y1805C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.Y1777C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1805	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y1805C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCTCCCGTTATAGGGACATTC	0.483000													16	180					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71015470	71015470	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:71015470C>A	ENST00000393567.2	-	29	4484	c.4332_splice	c.e29-1	p.G1445_splice		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1445								p.G1444V(1)|p.G1396V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTGATAAAGCCCTACGCGGT	0.393000													33	173					4.65686e-17	8.04874e-17	1	1	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs3831361	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							ATTTGTTCATGCCTTCCCTTT	0.453000													10	108					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19516285	19516285	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:19516285T>A	ENST00000341998.2	-	10	1913	c.1852A>T	c.(1852-1854)Atc>Ttc	p.I618F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I601F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	618					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.I618F(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATAGAGAGGATGACGAAGAGC	0.512000													38	178					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210698	15210698	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:15210698C>G	ENST00000217246.4	+	6	926	c.531C>G	c.(529-531)atC>atG	p.I177M	MACROD2_ENST00000310348.4_Missense_Mutation_p.I177M|MACROD2_ENST00000402914.1_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	177	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATAACATCCGATCAGTTG	0.363000													3	75					0	0	1	0	0
GATAD1	57798	broad.mit.edu	37	7	92083958	92083958	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:92083958C>G	ENST00000287957.3	+	4	855	c.578C>G	c.(577-579)tCt>tGt	p.S193C		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	193							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S193C(1)		endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTACCCTCTCTAGCCCCAGA	0.428000													24	189					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727594	7727594	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:7727594A>T	ENST00000283147.6	+	1	565	c.406A>T	c.(406-408)Atg>Ttg	p.M136L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	136					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.M136L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GCCCCTCTTCATGCTGGATCT	0.711000													4	41					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806283	26806283	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:26806283G>T	ENST00000541819.2	-	9	1146	c.1044C>A	c.(1042-1044)caC>caA	p.H348Q	GABRB3_ENST00000299267.4_Missense_Mutation_p.H292Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.H207Q|GABRB3_ENST00000311550.5_Missense_Mutation_p.H292Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.H221Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	292					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	p.H292Q(2)|p.H348Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTCCCGAAGGTGGGTGTTGA	0.473000													27	110					7.38237e-10	1.03429e-09	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126135350	126135350	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:126135350G>T	ENST00000299308.3	+	7	1758	c.1750G>T	c.(1750-1752)Ggg>Tgg	p.G584W	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G96W	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	584						integral to membrane		p.G584W(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCTGACTTAGGGCAGCTGAC	0.577000													7	96					0.000157383	0.000176097	1	1	0
GRIP2	80852	broad.mit.edu	37	3	14547155	14547155	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:14547155C>T	ENST00000273083.3	-	0	2605							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding	p.E848E(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTCCTCCTCCTCCTCTGGAA	0.672000													7	23					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70948970	70948970	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:70948970C>T	ENST00000357250.6	-	33	2257	c.2099G>A	c.(2098-2100)gGc>gAc	p.G700D	COL9A1_ENST00000370499.4_Missense_Mutation_p.G457D|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.G457D|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	700	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G457D(1)|p.G700D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCCTTTGGGCCAGGTAATCC	0.259000													20	87					0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	103969268	103969268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103969268C>A	ENST00000535008.1	+	1	165	c.41C>A	c.(40-42)gCg>gAg	p.A14E	LHFPL3_ENST00000543266.1_Missense_Mutation_p.A14E|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	0						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						gccgccgccgcGATGCTCCCG	0.701000													6	53					3.59834e-05	4.14518e-05	1	1	0
PARD6B	84612	broad.mit.edu	37	20	49366767	49366767	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:49366767G>T	ENST00000371610.2	+	3	1104	c.861G>T	c.(859-861)gaG>gaT	p.E287D	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	287					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding	p.E287D(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TTGAGCCAGAGGATGAAGACA	0.463000													22	255					1.10513e-12	1.71677e-12	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159283598	159283598	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:159283598A>G	ENST00000332217.5	-	1	851	c.852T>C	c.(850-852)ccT>ccC	p.P284P		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGGTTCAGTAGGGGAGTGAT	0.507000													12	179					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192277	152192277	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152192277G>T	ENST00000368801.2	-	3	1903	c.1828C>A	c.(1828-1830)Cat>Aat	p.H610N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	610					keratinization		calcium ion binding|protein binding	p.H610N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGCCCATGGGTAGAGGAA	0.567000													82	913					8.13855e-26	1.56525e-25	1	1	0
CDH12	1010	broad.mit.edu	37	5	21765193	21765193	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:21765193G>T	ENST00000382254.1	-	12	2495	c.1409C>A	c.(1408-1410)aCc>aAc	p.T470N	CDH12_ENST00000522262.1_Missense_Mutation_p.T430N|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.T470N|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	470	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T470N(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTTTGCTGGTCAATAAAGG	0.313000										HNSCC(59;0.17)			11	85					4.68919e-08	6.13567e-08	1	1	0
HGSNAT	138050	broad.mit.edu	37	8	43037331	43037331	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:43037331G>T	ENST00000458501.2	+	11	1140	c.1140G>T	c.(1138-1140)ttG>ttT	p.L380F	HGSNAT_ENST00000521576.1_Missense_Mutation_p.L69F|HGSNAT_ENST00000297798.7_Missense_Mutation_p.L84F|HGSNAT_ENST00000379644.4_Missense_Mutation_p.L352F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	380					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	p.L380F(1)|p.L84F(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGCAGCGATTGGGAGTGACAT	0.478000													165	479					1.55838e-101	3.34269e-101	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													9	75					0	0	1	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388253	26388253	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26388253A>T	ENST00000356709.4	+	4	566	c.455A>T	c.(454-456)aAg>aTg	p.K152M	BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.K152M|BTN2A2_ENST00000469230.1_Missense_Mutation_p.K152M|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.K36M	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	152					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		p.K152L(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTTGGGTCTAAGCCCCTCATT	0.567000													21	89					0	0	1	0	0
KLF14	136259	broad.mit.edu	37	7	130418206	130418206	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:130418206G>T	ENST00000310992.4	-	1	682	c.655C>A	c.(655-657)Cac>Aac	p.H219N		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H219N(1)		large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					TCACCCGTGTGGGTGCGCTGG	0.632000													20	46					4.54149e-19	8.12966e-19	1	1	0
PCLO	27445	broad.mit.edu	37	7	82476482	82476482	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:82476482C>A	ENST00000423517.2	-	11	14073	c.13736G>T	c.(13735-13737)aGt>aTt	p.S4579I	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.S4579I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4467	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4579I(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTTCCCCACTTTGCTGACT	0.343000													5	41					0.000602214	0.00065735	1	1	0
HECW1	23072	broad.mit.edu	37	7	43436462	43436462	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:43436462G>C	ENST00000395891.1	+	7	1210	c.605G>C	c.(604-606)cGg>cCg	p.R202P	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R202P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	202	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R202P(1)|p.R181P(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAAGGAAGTCGGAGGCTGATC	0.423000													21	128					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167711556	167711556	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:167711556C>A	ENST00000230256.3	+	4	798	c.623C>A	c.(622-624)aCt>aAt	p.T208N	UNC93A_ENST00000366829.2_Intron	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	208						integral to membrane|plasma membrane		p.T208N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCATCTACACTGGTACGAGC	0.592000													33	116					2.68265e-12	4.12193e-12	1	1	0
KRT6B	3854	broad.mit.edu	37	12	52845379	52845379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52845379C>A	ENST00000252252.3	-	1	531	c.484G>T	c.(484-486)Gag>Tag	p.E162*		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	162	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.E162*(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCACGCTCCTCGGCCCGCACC	0.602000													25	321					9.57592e-29	1.8936e-28	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48510574	48510574	+	Missense_Mutation	SNP	C	C	A	rs150039172		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:48510574C>A	ENST00000446524.1	+	1	306	c.230C>A	c.(229-231)cCc>cAc	p.P77H		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P77H(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCCATTTCCCCCAGATTGATT	0.433000													20	150					8.10497e-08	1.05322e-07	1	1	0
NPY	4852	broad.mit.edu	37	7	24324910	24324910	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:24324910C>T	ENST00000407573.1	+	3	341	c.51C>T	c.(49-51)tcC>tcT	p.S17S	NPY_ENST00000242152.2_Silent_p.S17S|NPY_ENST00000405982.1_Silent_p.S17S			P01303	NPY_HUMAN	neuropeptide Y	17					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	p.S17S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TCGCCCTGTCCCTGCTCGTGT	0.657000													29	156					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38034454	38034454	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:38034454G>A	ENST00000373062.3	-	13	1964	c.1866C>T	c.(1864-1866)gtC>gtT	p.V622V	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	622					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	p.V622V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AATATTACCTGACTGCTGAAA	0.378000													39	365					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655944	19655944	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:19655944G>T	ENST00000586018.1	+	8	2710	c.2608G>T	c.(2608-2610)Gcc>Tcc	p.A870S	CILP2_ENST00000291495.4_Missense_Mutation_p.A864S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	864						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.A864S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CATCAACCTCGCCAAGCCCAG	0.692000													39	125					2.24893e-16	3.83568e-16	1	1	0
DENND5B	160518	broad.mit.edu	37	12	31566471	31566471	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:31566471C>T	ENST00000389082.5	-	13	2844	c.2580G>A	c.(2578-2580)aaG>aaA	p.K860K	DENND5B_ENST00000306833.6_Silent_p.K895K|DENND5B_ENST00000536562.1_Silent_p.K895K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	860	RUN 1.					integral to membrane		p.K860K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAACATCAGTCTTGATCTCAC	0.413000													14	70					0	0	1	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231587	142231587	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142231587G>T	ENST00000390364.3	-	0	397																											CACTGCTGGCGCAGAAATATA	0.542000													31	170					5.90632e-09	7.98785e-09	1	1	0
OS9	10956	broad.mit.edu	37	12	58109729	58109729	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:58109729A>G	ENST00000315970.7	+	6	807	c.766A>G	c.(766-768)Atg>Gtg	p.M256V	OS9_ENST00000389142.5_Missense_Mutation_p.M256V|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.M256V|OS9_ENST00000551035.1_Missense_Mutation_p.M223V|OS9_ENST00000439210.2_Missense_Mutation_p.M197V|OS9_ENST00000552285.1_Missense_Mutation_p.M256V|OS9_ENST00000257966.8_Missense_Mutation_p.M256V|OS9_ENST00000413095.2_Intron|OS9_ENST00000435406.2_Missense_Mutation_p.M204V	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	256					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGAGGAGTACATGGCCTACGT	0.602000													7	190					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31329943	31329943	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:31329943C>A	ENST00000542188.1	-	19	2906	c.2593G>T	c.(2593-2595)Gcg>Tcg	p.A865S	TRPM1_ENST00000256552.6_Missense_Mutation_p.A848S|TRPM1_ENST00000397795.2_Missense_Mutation_p.A826S|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	826					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.A826T(2)|p.A826S(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACAATGGGCGCGTTATAGAAT	0.408000													10	119					7.48243e-07	9.33783e-07	1	1	0
LRP4	4038	broad.mit.edu	37	11	46921855	46921855	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:46921855C>T	ENST00000378623.1	-	3	516	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	92	LDL-receptor class A 2.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.G92R(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGTTGTCCCCGTCACACACC	0.522000													20	195					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119301338	119301338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:119301338G>A	ENST00000338891.7	-	10	2709	c.2266C>T	c.(2266-2268)Caa>Taa	p.Q756*	FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Q636*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Q636*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Q756*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	756										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCCATAGTTTGAAATGCAAGG	0.373000													8	143					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272799	52272799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52272799C>A	ENST00000598776.1	+	2	1660	c.888C>A	c.(886-888)tgC>tgA	p.C296*	FPR2_ENST00000340023.6_Nonsense_Mutation_p.C296*|FPR2_ENST00000598953.1_Nonsense_Mutation_p.C296*	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	296					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.C296*(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAACAGCTGCCTCAACCCCA	0.537000													42	124					4.64027e-19	8.29439e-19	1	1	0
VCAN	1462	broad.mit.edu	37	5	82837427	82837427	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82837427C>G	ENST00000265077.3	+	8	9170	c.8605C>G	c.(8605-8607)Cat>Gat	p.H2869D	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.H1882D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2869	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.H2869D(1)		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)		TAAGGAAATTCATGTAAATAT	0.448000													16	146					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145499985	145499985	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:145499985T>A	ENST00000394434.2	-	31	3440	c.3274A>T	c.(3274-3276)Aac>Tac	p.N1092Y	LARS_ENST00000510191.1_Missense_Mutation_p.N1038Y|LARS_ENST00000274562.9_Missense_Mutation_p.N1065Y|LARS_ENST00000545646.1_Missense_Mutation_p.N1046Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1092					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.N1092Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GAATCACAGTTATCTCCTTGC	0.413000													48	177					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201448175	201448175	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:201448175G>A	ENST00000357799.4	+	9	3884	c.3786G>A	c.(3784-3786)aaG>aaA	p.K1262K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1262					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.K1262K(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTTGCAGCAAGATGAGAAGAT	0.299000													21	109					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731482	94731482	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:94731482A>T	ENST00000335080.5	+	3	1778	c.946A>T	c.(946-948)Agg>Tgg	p.R316W	KDM4D_ENST00000536741.1_Missense_Mutation_p.R316W	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	316					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R316W(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGGGAGGCAAGGGTGACCTT	0.542000													16	134					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901162	123901162	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:123901162T>C	ENST00000431524.1	+	1	866	c.833T>C	c.(832-834)cTg>cCg	p.L278P		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L278P(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TACACTGTGCTGACGCCCCTT	0.498000													54	168					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18731227	18731227	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:18731227C>T	ENST00000600490.1	+	9	1095	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	TMEM59L_ENST00000262817.3_Silent_p.L304L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	304						Golgi membrane|integral to membrane|membrane fraction		p.L304L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCCTCTGACCCTGGAGCAGCA	0.627000													30	129					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072870	134072870	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:134072870G>T	ENST00000264360.4	+	1	2401	c.1575G>T	c.(1573-1575)ttG>ttT	p.L525F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	525	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L525F(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGGCTACTTGTACGCCCTGC	0.592000													26	163					4.59853e-10	6.49453e-10	1	1	0
MGAT5	4249	broad.mit.edu	37	2	135119873	135119873	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:135119873G>T	ENST00000409645.1	+	11	1526	c.1274G>T	c.(1273-1275)gGg>gTg	p.G425V	MGAT5_ENST00000281923.2_Missense_Mutation_p.G425V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	425					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.G425V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AGCTTTCTGGGGTTTGTGGTT	0.433000													97	342					4.04825e-61	8.56374e-61	1	1	0
SEPT3	55964	broad.mit.edu	37	22	42383628	42383628	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:42383628G>T	ENST00000396425.3	+	5	547	c.416G>T	c.(415-417)tGg>tTg	p.W139L	SEPT3_ENST00000291236.11_Missense_Mutation_p.W75L|SEPT3_ENST00000396426.3_Missense_Mutation_p.W139L|SEPT3_ENST00000328414.8_Missense_Mutation_p.G69W|SEPT3_ENST00000406029.1_Missense_Mutation_p.W75L	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	139					cell cycle|cytokinesis	cell junction|septin complex	GTP binding	p.W139L(3)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CCCATCAGCTGGGAGCCCATT	0.488000													10	129					1.58986e-06	1.94651e-06	1	1	0
EXOC3	11336	broad.mit.edu	37	5	453846	453846	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:453846G>A	ENST00000512944.1	+	4	915	c.726G>A	c.(724-726)aaG>aaA	p.K242K	EXOC3_ENST00000315013.5_Silent_p.K242K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	253					exocytosis|protein transport			p.K242K(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGAGGCCCAAGAATTGGAAGG	0.483000													8	165					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187608278	187608278	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:187608278G>T	ENST00000304698.5	+	3	744	c.541G>T	c.(541-543)Gtt>Ttt	p.V181F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	181						integral to membrane	DNA binding	p.V181F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAAGACACTGTTTTAATTAC	0.313000													12	118					5.50884e-06	6.56782e-06	1	1	0
PRMT3	10196	broad.mit.edu	37	11	20429516	20429516	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:20429516G>T	ENST00000331079.6	+	9	1048	c.831G>T	c.(829-831)ggG>ggT	p.G277G	PRMT3_ENST00000437750.2_Silent_p.G215G	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	277							zinc ion binding	p.G277G(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CTAAAGCTGGGGCGAAGAAGG	0.338000													23	106					1.1804e-14	1.93917e-14	1	1	0
FAM46D	169966	broad.mit.edu	37	X	79698553	79698553	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:79698553G>T	ENST00000538312.1	+	5	849	c.515G>T	c.(514-516)aGt>aTt	p.S172I	FAM46D_ENST00000308293.5_Missense_Mutation_p.S172I	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	172								p.S172I(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TTTGAATTTAGTGTAGATTCC	0.373000													24	54					6.32553e-13	9.92684e-13	1	1	0
INTS4	92105	broad.mit.edu	37	11	77671418	77671418	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:77671418C>A	ENST00000534064.1	-	6	711	c.677G>T	c.(676-678)gGa>gTa	p.G226V	INTS4_ENST00000529807.1_Missense_Mutation_p.G226V	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	226					snRNA processing	integrator complex	protein binding	p.G226L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TAATTTCAGTCCTCTTTCATG	0.393000													18	174					2.32416e-17	4.04832e-17	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553825	19553825	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:19553825C>G	ENST00000409832.3	+	1	461	c.409C>G	c.(409-411)Cga>Gga	p.R137G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	137										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACGTCCGTCGAGAAGATCT	0.577000													13	548					0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97488585	97488585	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:97488585G>C	ENST00000175506.4	-	6	1141	c.613C>G	c.(613-615)Cat>Gat	p.H205D	ASNS_ENST00000455086.1_Missense_Mutation_p.H122D|ASNS_ENST00000394308.3_Missense_Mutation_p.H205D|ASNS_ENST00000444334.1_Missense_Mutation_p.H184D|ASNS_ENST00000394309.3_Missense_Mutation_p.H205D|ASNS_ENST00000422745.1_Missense_Mutation_p.H184D|ASNS_ENST00000437628.1_Missense_Mutation_p.H122D	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	205					cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.H205D(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGACAGTGATGATATTTAACC	0.458000													10	158					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35090037	35090037	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:35090037G>T	ENST00000311875.5	-	5	891	c.474C>A	c.(472-474)ctC>ctA	p.L158L	TCP11_ENST00000512012.1_Silent_p.L145L|TCP11_ENST00000373979.2_Silent_p.L83L|TCP11_ENST00000444780.2_Silent_p.L153L|TCP11_ENST00000418521.2_Silent_p.L82L|TCP11_ENST00000412155.2_Silent_p.L107L|TCP11_ENST00000373974.4_Silent_p.L112L|TCP11_ENST00000244645.3_Silent_p.L83L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	145					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.L83L(1)|p.L158L(1)		breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CCTCCTGCTTGAGCAAGTCCA	0.488000													19	165					1.01871e-10	1.48045e-10	1	1	0
XIRP2	129446	broad.mit.edu	37	2	167760236	167760236	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:167760236G>T	ENST00000409195.1	+	2	333	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	XIRP2_ENST00000409043.1_Missense_Mutation_p.D82Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.D82Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.D82Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.D82Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D82Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						GGATTCTGTGGACAAGAGTAA	0.512000													13	90					0.0167234	0.0172937	1	1	0
PCLO	27445	broad.mit.edu	37	7	82579983	82579983	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:82579983C>A	ENST00000423517.2	-	6	10258	c.9921G>T	c.(9919-9921)ctG>ctT	p.L3307L	PCLO_ENST00000333891.8_Silent_p.L3307L|PCLO_ENST00000437081.1_Silent_p.L27L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3238					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L3307L(2)|p.L3238L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCTCCTCCAGCTGCTGGT	0.498000													54	195					1.11015e-26	2.15365e-26	1	1	0
PSMG2	56984	broad.mit.edu	37	18	12718523	12718523	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:12718523C>T	ENST00000317615.6	+	4	978	c.296C>T	c.(295-297)tCa>tTa	p.S99L	RP11-973H7.2_ENST00000585331.1_RNA|PSMG2_ENST00000590217.1_Missense_Mutation_p.S99L	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	99					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						AAGTATAAATCAAAGCCATTC	0.348000													6	95					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123105090	123105090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:123105090C>T	ENST00000333479.7	+	60	6391	c.6214C>T	c.(6214-6216)Ccg>Tcg	p.P2072S	HCAR1_ENST00000356987.2_3'UTR|KNTC1_ENST00000534995.1_5'UTR|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_3'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.P997S	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	2072					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.P2072S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GTTAGAACTTCCGGCTTTTGC	0.463000													9	45					0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762812	138762812	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:138762812C>A	ENST00000413199.1	-	1	922	c.651G>T	c.(649-651)ctG>ctT	p.L217L	PRR23C_ENST00000502927.2_Silent_p.L217L|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	217	Pro-rich.							p.L217L(1)		breast(2)|lung(7)|skin(2)	11						GATGGAATTCCAGGTCGAAGA	0.662000													6	39					0.00116845	0.00125644	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37267485	37267485	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:37267485G>T	ENST00000373091.3	-	16	2743	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	909					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.A909A(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGTGCTGCAGGCCATGCTGT	0.592000													28	125					4.31634e-10	6.1277e-10	1	1	0
ANKRD19P	138649	broad.mit.edu	37	9	95599567	95599567	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:95599567C>A	ENST00000473204.1	+	0	1648																											TGTGCTGGGTCTGTGGGGCCG	0.617000													13	85					1.36491e-13	2.18244e-13	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128387322	128387322	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:128387322G>T	ENST00000389524.4	+	34	4702	c.4649G>T	c.(4648-4650)aGg>aTg	p.R1550M	MYO7B_ENST00000428314.1_Missense_Mutation_p.R1550M|MYO7B_ENST00000409090.1_Missense_Mutation_p.R403M|MYO7B_ENST00000409816.2_Missense_Mutation_p.R1550M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1550	SH3 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.R1793M(1)|p.R1550M(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGAACGACAGGACAGGCAAG	0.632000													14	87					4.14922e-12	6.34525e-12	1	1	0
OSGIN1	29948	broad.mit.edu	37	16	83992864	83992864	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:83992864G>T	ENST00000343939.2	+	4	699		c.e4-1		OSGIN1_ENST00000361711.3_Splice_Site|OSGIN1_ENST00000565123.1_Splice_Site|OSGIN1_ENST00000393306.1_Splice_Site			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1						cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.?(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TCTCTCCCCAGGTAACGGCCC	0.577000													12	140					7.93312e-07	9.82539e-07	1	1	0
PLAT	5327	broad.mit.edu	37	8	42038086	42038086	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:42038086G>T	ENST00000220809.4	-	10	1263	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H	PLAT_ENST00000524009.1_Missense_Mutation_p.P247H|PLAT_ENST00000429089.2_Missense_Mutation_p.P336H|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.P210H|PLAT_ENST00000352041.3_Missense_Mutation_p.P290H|PLAT_ENST00000519510.1_Missense_Mutation_p.P273H	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	336	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.P336N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCGCTCTCCGGGCGACCTCCT	0.622000													22	204					5.35356e-11	7.8969e-11	1	1	0
CDR1	1038	broad.mit.edu	37	X	139866015	139866015	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:139866015C>T	ENST00000370532.2	-	1	708	c.517G>A	c.(517-519)Gga>Aga	p.G173R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	173	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCCAGTCTTCCAGAAAATCCA	0.433000													5	296					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160389247	160389247	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:160389247G>T	ENST00000368061.2	+	4	1122	c.648G>T	c.(646-648)gtG>gtT	p.V216V		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	216					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.V216V(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGCGTGGTGCAGTTCGCCG	0.622000													13	313					4.3838e-07	5.52985e-07	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216346	20216346	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20216346C>T	ENST00000331723.1	+	1	760	c.760C>T	c.(760-762)Cca>Tca	p.P254S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P254S(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATCTTCGTGCCATGCGTATT	0.468000													17	256					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103453205	103453205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:103453205C>A	ENST00000358392.2	-	30	2839	c.2522G>T	c.(2521-2523)gGt>gTt	p.G841V	COL11A1_ENST00000370096.3_Missense_Mutation_p.G829V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G790V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G713V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	829	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G829V(1)|p.G841V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGCTTGACCTGAAGGACC	0.468000													29	70					2.61193e-14	4.23426e-14	1	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65358065	65358065	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:65358065T>A	ENST00000309295.4	+	16	4548		c.e16+2			NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1											central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCAGCTGCTGTGAGTGCTGGC	0.532000													11	41					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71150017	71150017	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:71150017C>G	ENST00000355527.3	-	7	1015	c.739G>C	c.(739-741)Gcc>Ccc	p.A247P	DHCR7_ENST00000407721.2_Missense_Mutation_p.A247P	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	247			A -> V (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A247P(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGGGTCCAGGCGACGATCCCG	0.552000									Smith-Lemli-Opitz syndrome				15	130					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915071	94915071	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:94915071A>T	ENST00000334708.3	-	2	105	c.41T>A	c.(40-42)cTg>cAg	p.L14Q	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	14					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L196Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACAGAGGCCAGGATCCCTGT	0.532000													20	193					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204951081	204951081	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:204951081C>T	ENST00000367172.4	+	21	2731	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V	NFASC_ENST00000367170.4_Silent_p.V801V|NFASC_ENST00000360049.4_Silent_p.V797V|NFASC_ENST00000513543.1_Silent_p.V797V|NFASC_ENST00000401399.1_Silent_p.V801V|NFASC_ENST00000367169.4_Silent_p.V801V|NFASC_ENST00000367171.4_Silent_p.V786V|NFASC_ENST00000339876.6_Silent_p.V801V|NFASC_ENST00000338515.6_Silent_p.V801V|NFASC_ENST00000539706.1_Silent_p.V797V|NFASC_ENST00000338586.6_Silent_p.V801V|NFASC_ENST00000404907.1_Silent_p.V797V|NFASC_ENST00000404076.1_Silent_p.V780V			O94856	NFASC_HUMAN	neurofascin	801	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.V797V(1)|p.V801V(1)		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)			AGATCCGAGTCCAGGCTGAAA	0.602000													14	53					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28916564	28916564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:28916564C>T	ENST00000257192.4	+	9	1465	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	418	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.S418L(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGTAGACCTTCAACGACTGTT	0.333000													20	72					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33941313	33941313	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:33941313C>A	ENST00000389232.4	+	31	4089	c.4019C>A	c.(4018-4020)cCa>cAa	p.P1340Q	RYR3_ENST00000415757.3_Missense_Mutation_p.P1340Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1340	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P1340Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACAGGATCCATCCTGTGTC	0.532000													48	196					4.0181e-32	8.12888e-32	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50149359	50149359	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:50149359G>T	ENST00000404971.1	-	24	5706	c.4367C>A	c.(4366-4368)cCg>cAg	p.P1456Q	NRXN1_ENST00000405472.3_Missense_Mutation_p.P1408Q|NRXN1_ENST00000342183.5_Missense_Mutation_p.P351Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.P1386Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.P1408Q|NRXN1_ENST00000406316.2_Missense_Mutation_p.P1386Q|NRXN1_ENST00000401710.1_Missense_Mutation_p.P404Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.P1416Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1386					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.P1386Q(1)|p.P351Q(1)|p.P1456Q(1)|p.P1457Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTGGATACGGCTCTCTGCC	0.527000													5	56					3.59834e-05	4.14518e-05	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10335490	10335490	+	Missense_Mutation	SNP	A	A	T	rs141350047	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:10335490A>T	ENST00000377086.1	+	11	1089	c.887A>T	c.(886-888)aAa>aTa	p.K296I	KIF1B_ENST00000377083.1_Missense_Mutation_p.K290I|KIF1B_ENST00000377093.4_Missense_Mutation_p.K290I|KIF1B_ENST00000377081.1_Missense_Mutation_p.K296I|KIF1B_ENST00000263934.6_Missense_Mutation_p.K290I			O60333	KIF1B_HUMAN	kinesin family member 1B	296	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.K290I(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TAATAGAGTAAAAAGAAGAAG	0.318000													6	116					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411562	57411562	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:57411562G>T	ENST00000543257.1	-	8	1447	c.881C>A	c.(880-882)aCa>aAa	p.T294K	C8B_ENST00000535057.1_Missense_Mutation_p.T284K|C8B_ENST00000371237.4_Missense_Mutation_p.T346K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	346	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.T346K(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CACAGCCTCTGTGATGTAGTG	0.507000													13	101					7.03913e-09	9.48332e-09	1	1	0
DCDC1	341019	broad.mit.edu	37	11	31327816	31327816	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:31327816G>A	ENST00000597505.1	-	3	553	c.554C>T	c.(553-555)aCa>aTa	p.T185I	DCDC1_ENST00000452803.1_Missense_Mutation_p.T185I|RP1-296L11.1_ENST00000528872.1_RNA			P59894	DCDC1_HUMAN	doublecortin domain containing 1	185	Doublecortin.				intracellular signal transduction			p.T185I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GGCAAAGACTGTTCTAGATCC	0.348000													6	71					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845197	248845197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248845197C>A	ENST00000342623.3	-	1	432	c.409G>T	c.(409-411)Gga>Tga	p.G137*		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G137L(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TAGCACCCTCCTGATGTCATC	0.537000													10	79					0.0692343	0.0705265	1	1	0
CWH43	80157	broad.mit.edu	37	4	49032885	49032885	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:49032885C>A	ENST00000226432.4	+	11	1599	c.1416C>A	c.(1414-1416)ccC>ccA	p.P472P	CWH43_ENST00000513409.1_Silent_p.P445P	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	472					GPI anchor biosynthetic process	integral to membrane		p.P472P(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTTCTAAGCCCTATATGGGGA	0.403000													20	140					1.96292e-10	2.82091e-10	1	1	0
HIST1H2BF	8343	broad.mit.edu	37	6	26199826	26199826	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26199826G>T	ENST00000359985.1	+	1	79	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	14					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G14C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TCCAAAAAAGGGCTCCAAAAA	0.498000													29	240					5.77227e-19	1.02954e-18	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23886328	23886328	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:23886328C>A	ENST00000507380.1	-	2	358	c.281G>T	c.(280-282)tGg>tTg	p.W94L	PPARGC1A_ENST00000264867.2_Intron			Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	0					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TAGTCGGGCCCAAGCCAAACT	0.338000													5	71					0.184627	0.186449	1	1	0
RGS5	8490	broad.mit.edu	37	1	163122409	163122409	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:163122409G>T	ENST00000313961.5	-	4	592	c.315C>A	c.(313-315)tcC>tcA	p.S105S	RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000530507.1_Silent_p.S105S|RGS5_ENST00000367903.3_Silent_p.S125S	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	105	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.S105S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TCTTGGCAGGGGACTTGATCT	0.448000													181	420					3.34001e-81	7.12689e-81	1	1	0
CAND2	23066	broad.mit.edu	37	3	12854499	12854499	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:12854499G>C	ENST00000456430.2	+	6	809	c.768G>C	c.(766-768)ctG>ctC	p.L256L	CAND2_ENST00000295989.5_Silent_p.L163L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	256					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGGCTCACCTGGACCGCCTGG	0.602000													4	13					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134253	27134253	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:27134253G>C	ENST00000343060.4	-	2	875	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	272						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q272E(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTTCACTTGGGTCTCGTTG	0.577000													17	183					0	0	1	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988931	31988931	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:31988931A>T	ENST00000334664.2	+	1	182	c.158A>T	c.(157-159)tAt>tTt	p.Y53F		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	53						intermediate filament		p.Y53F(1)		breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						TATTGGTCATATGGTTTCTAC	0.438000													29	179					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190660675	190660675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:190660675G>T	ENST00000441310.2	+	3	546	c.313G>T	c.(313-315)Gag>Tag	p.E105*	PMS1_ENST00000374826.4_Nonsense_Mutation_p.E105*|PMS1_ENST00000447232.2_Nonsense_Mutation_p.E105*|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409985.1_Nonsense_Mutation_p.E105*|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Nonsense_Mutation_p.E105*	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	105					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.E105*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTATAGCTGAGGTAAGGTA	0.313000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					21	111					2.52088e-20	4.6066e-20	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113304930	113304930	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113304930C>A	ENST00000297405.5	-	55	8868	c.8624G>T	c.(8623-8625)tGt>tTt	p.C2875F	CSMD3_ENST00000343508.3_Missense_Mutation_p.C2835F|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2706F|CSMD3_ENST00000352409.3_Missense_Mutation_p.C2805F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2875	Sushi 19.					integral to membrane|plasma membrane		p.C2875F(1)|p.C2835F(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						AGGGTGACCACAGCTAACAGC	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	92					0.000673444	0.000730879	1	1	0
NALCN	259232	broad.mit.edu	37	13	101763040	101763040	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:101763040C>A	ENST00000251127.6	-	20	2376		c.e20-1			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective							integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.?(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTTAGTGACCTAAAACAACC	0.378000													39	122					5.20006e-24	9.88495e-24	1	1	0
OR52K1	390036	broad.mit.edu	37	11	4510987	4510987	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:4510987C>A	ENST00000307632.3	+	1	879	c.857C>A	c.(856-858)cCa>cAa	p.P286Q		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P286Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCCTTTTCCCACCCATGGTC	0.463000													31	240					8.16721e-17	1.40369e-16	1	1	0
GPATCH2	55105	broad.mit.edu	37	1	217784288	217784288	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:217784288C>A	ENST00000366935.3	-	4	1071	c.961G>T	c.(961-963)Gtc>Ttc	p.V321F	GPATCH2_ENST00000366934.3_Missense_Mutation_p.V321F	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	321						intracellular	nucleic acid binding	p.V321F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTTTCAAAGACAGGATCTGGT	0.453000													14	121					7.93312e-07	9.82539e-07	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039574	31039574	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:31039574G>T	ENST00000355537.3	+	4	3195	c.3048G>T	c.(3046-3048)atG>atT	p.M1016I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.M1016I(1)		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)					TGGAGCTCATGGCCCTTCATC	0.577000													13	132					5.50884e-06	6.56782e-06	1	1	0
ZNF274	10782	broad.mit.edu	37	19	58718367	58718367	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58718367G>T	ENST00000326804.4	+	6	994	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D147Y|ZNF274_ENST00000424679.2_Missense_Mutation_p.D74Y	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	180	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.D147Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGGAGCCCTGGACCAGCTCCG	0.622000													17	24					1.15088e-07	1.48142e-07	1	1	0
SLC10A6	345274	broad.mit.edu	37	4	87770121	87770121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:87770121C>A	ENST00000273905.6	-	1	295	c.148G>T	c.(148-150)Gga>Tga	p.G50*	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	50						integral to membrane|plasma membrane	bile acid:sodium symporter activity	p.G50*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACGGAACATCCCAAAGAGAAC	0.567000													9	61					3.09899e-07	3.9395e-07	1	1	0
FBXO3	26273	broad.mit.edu	37	11	33792333	33792333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:33792333C>A	ENST00000530401.1	-	2	153	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	FBXO3_ENST00000265651.3_Missense_Mutation_p.D50Y|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000448981.2_Missense_Mutation_p.D50Y|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000534136.1_Missense_Mutation_p.D50Y			Q9UK99	FBX3_HUMAN	F-box protein 3	50	F-box.				proteolysis	nucleus	ubiquitin-protein ligase activity	p.D50Y(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CACAGCGGATCATGACTTGAT	0.383000													57	475					1.38921e-15	2.32735e-15	1	1	0
MACF1	23499	broad.mit.edu	37	1	39888557	39888557	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:39888557G>A	ENST00000564288.1	+	60	16911	c.16134G>A	c.(16132-16134)caG>caA	p.Q5378Q	MACF1_ENST00000289893.4_Silent_p.Q3818Q|MACF1_ENST00000567887.1_Silent_p.Q5415Q|MACF1_ENST00000539005.1_Silent_p.Q3295Q|MACF1_ENST00000545844.1_Silent_p.Q3316Q|MACF1_ENST00000361689.2_Silent_p.Q3316Q|MACF1_ENST00000317713.7_Silent_p.Q3316Q|MACF1_ENST00000372915.3_Silent_p.Q5383Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5383					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q3818Q(1)|p.Q3316Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAAAGCACAGATCCAAGAAC	0.453000													9	68					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339919	55339919	+	Missense_Mutation	SNP	G	G	T	rs144938325		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55339919G>T	ENST00000314634.3	+	1	316	c.316G>T	c.(316-318)Ggc>Tgc	p.G106C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106C(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCATGTCTTTGGCTGCCTGGA	0.483000													76	277					3.00167e-28	5.90714e-28	1	1	0
FAM46B	115572	broad.mit.edu	37	1	27333053	27333053	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:27333053C>A	ENST00000289166.5	-	2	825	c.660G>T	c.(658-660)caG>caT	p.Q220H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	220								p.Q219H(1)|p.Q219Q(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGGATGATCTGGAAGGAGT	0.557000													15	75					2.31682e-05	2.68149e-05	1	1	0
AP5Z1	9907	broad.mit.edu	37	7	4824630	4824630	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4824630G>A	ENST00000348624.4	+	7	976	c.882G>A	c.(880-882)cgG>cgA	p.R294R	AP5Z1_ENST00000401897.1_Silent_p.R294R	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	294					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										AGCGGCTTCGGGAGGTGGCCT	0.682000													25	83					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106480519	106480519	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:106480519C>A	ENST00000261402.2	-	3	1885	c.506G>T	c.(505-507)tGt>tTt	p.C169F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	169	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.C169F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TACCTTGTGACAATAGTGCAC	0.507000													20	68					1.96292e-10	2.82091e-10	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40757458	40757458	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:40757458C>A	ENST00000373198.3	-	20	3084	c.2849G>T	c.(2848-2850)cGg>cTg	p.R950L	PTPRT_ENST00000373187.1_Missense_Mutation_p.R928L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R937L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R918L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R918L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R927L|PTPRT_ENST00000373193.3_Missense_Mutation_p.R931L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	928	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R950L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCCTCACCCGGGAATGGTC	0.522000													31	110					2.42023e-17	4.1978e-17	1	1	0
PIP	5304	broad.mit.edu	37	7	142836648	142836648	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:142836648G>T	ENST00000291009.3	+	4	394	c.354G>T	c.(352-354)cgG>cgT	p.R118R		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118						extracellular region	actin binding	p.R118R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		ATGTTATTCGGGAATTAGGCA	0.453000													53	271					6.3237e-29	1.25452e-28	1	1	0
PSMB11	122706	broad.mit.edu	37	14	23512073	23512073	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:23512073C>A	ENST00000408907.2	+	1	698	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.T213T(3)		endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCCACGCCACCCACCGTGATG	0.622000													12	95					2.27111e-07	2.89758e-07	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50847255	50847255	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:50847255C>A	ENST00000404971.1	-	9	2684	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W	NRXN1_ENST00000405472.3_Missense_Mutation_p.G401W|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.G409W|NRXN1_ENST00000402717.3_Missense_Mutation_p.G401W|NRXN1_ENST00000406316.2_Missense_Mutation_p.G409W|NRXN1_ENST00000401669.2_Missense_Mutation_p.G409W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	409	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G449W(1)|p.G450W(1)|p.G409W(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCAGACCCCAGCATGGTA	0.473000													11	59					2.68362e-12	4.12193e-12	1	1	0
OR51A7	119687	broad.mit.edu	37	11	4928835	4928835	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:4928835C>A	ENST00000359350.4	+	1	236	c.236C>A	c.(235-237)cCt>cAt	p.P79H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79H(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCCCTTCCTACCATGTTG	0.458000													23	149					2.44723e-14	3.97776e-14	1	1	0
MIPEP	4285	broad.mit.edu	37	13	24380112	24380112	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:24380112C>A	ENST00000382172.3	-	16	1923	c.1825G>T	c.(1825-1827)Ggc>Tgc	p.G609C		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	609					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.G609F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TATGGTAGGCCATAGAATTTC	0.418000													33	179					1.61788e-16	2.7613e-16	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714430	70714430	+	RNA	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:70714430T>A	ENST00000530196.1	-	0	88					NR_003951.1																						GGACAAGGTGTGAGGCACTGC	0.522000													38	261					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373044	24373044	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:24373044G>A	ENST00000005284.3	+	4	2010	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	270					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|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D270N(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCTCTCCCGGGACCCCTCAAA	0.562000													42	182					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208212308	208212308	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:208212308C>A	ENST00000367033.3	-	25	5279	c.4522G>T	c.(4522-4524)Gac>Tac	p.D1508Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1508					axon guidance	integral to membrane|intracellular|plasma membrane		p.D1508Y(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCTCGTTGTCAGGGTTGACG	0.498000													31	131					9.04072e-19	1.60782e-18	1	1	0
CDH9	1007	broad.mit.edu	37	5	26906170	26906170	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:26906170G>T	ENST00000231021.4	-	5	881	c.709C>A	c.(709-711)Cag>Aag	p.Q237K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	237	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q237K(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTTGGCCTGTATAACAACC	0.443000													22	186					1.10513e-12	1.71677e-12	1	1	0
L1CAM	3897	broad.mit.edu	37	X	153130872	153130872	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:153130872G>T	ENST00000370060.1	-	21	2820	c.2631C>A	c.(2629-2631)acC>acA	p.T877T	L1CAM_ENST00000361981.3_Silent_p.T872T|L1CAM_ENST00000361699.4_Silent_p.T877T|L1CAM_ENST00000370057.3_Silent_p.T877T|L1CAM_ENST00000370055.1_Silent_p.T872T|L1CAM_ENST00000538883.1_Silent_p.T879T|L1CAM_ENST00000543994.1_Silent_p.T879T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	877	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.T877T(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACACTGGTGGTGTTGGCGG	0.602000													42	221					1.00776e-21	1.86374e-21	1	1	0
ADRA2B	151	broad.mit.edu	37	2	96781416	96781416	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:96781416G>T	ENST00000409345.3	-	1	568	c.473C>A	c.(472-474)cCg>cAg	p.P158Q		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	158					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	p.P158L(2)|p.P158Q(2)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCGCCCGCGCGGCTGGGGGCC	0.637000													18	89					1.96292e-10	2.82091e-10	1	1	0
POP4	10775	broad.mit.edu	37	19	30099608	30099608	+	Missense_Mutation	SNP	G	G	T	rs144806266		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:30099608G>T	ENST00000585603.1	+	2	2354	c.52G>T	c.(52-54)Gat>Tat	p.D18Y	POP4_ENST00000392279.3_Silent_p.P11P|POP4_ENST00000221770.3_5'UTR|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	18					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	p.D18Y(1)		breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GAATGACTCCGATGTCCAGGT	0.488000													18	161					3.99206e-14	6.42075e-14	1	1	0
ZNF711	7552	broad.mit.edu	37	X	84526809	84526809	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:84526809G>T	ENST00000360700.4	+	10	3285	c.2399G>T	c.(2398-2400)aGg>aTg	p.R800M	ZNF711_ENST00000373165.3_Missense_Mutation_p.R754M|ZNF711_ENST00000276123.3_Missense_Mutation_p.R754M|ZNF711_ENST00000542798.1_Missense_Mutation_p.R596M|ZNF711_ENST00000395402.1_Missense_Mutation_p.R762M			Q9Y462	ZN711_HUMAN	zinc finger protein 711	754					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CATATTATGAGGCACCACAAA	0.363000													7	50					5.18039e-06	6.22154e-06	1	1	0
BARD1	580	broad.mit.edu	37	2	215645935	215645935	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:215645935C>A	ENST00000260947.4	-	4	797	c.663G>T	c.(661-663)gaG>gaT	p.E221D	BARD1_ENST00000449967.2_Missense_Mutation_p.E77D|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	221					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTCTGCCTCTAAATTCC	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	150					0.000219431	0.00024441	1	1	0
VAV3	10451	broad.mit.edu	37	1	108299900	108299900	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:108299900C>A	ENST00000370056.4	-	11	1343	c.1069G>T	c.(1069-1071)Gct>Tct	p.A357S	VAV3_ENST00000527011.1_Missense_Mutation_p.A357S|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.A292S	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	357	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.A357S(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCATCAAGAGCCAGTTTCAGA	0.358000													10	86					1.76689e-08	2.33557e-08	1	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798007	31798007	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:31798007G>A	ENST00000390690.2	-	1	279	c.224C>T	c.(223-225)cCc>cTc	p.P75L		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	75	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GGTGTGGCAGGGGCTGGACTC	0.567000													12	81					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165801829	165801829	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:165801829G>T	ENST00000366882.1	-	18	1894	c.1740C>A	c.(1738-1740)acC>acA	p.T580T	PDE10A_ENST00000539869.2_Silent_p.T590T|PDE10A_ENST00000354448.4_Silent_p.T580T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	580					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.T580T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GCTGCTCCATGGTGGAAGTGG	0.567000													24	176					7.92952e-12	1.19625e-11	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746569	77746569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:77746569G>T	ENST00000409088.3	-	3	840	c.426C>A	c.(424-426)taC>taA	p.Y142*	LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.Y142*|LRRTM4_ENST00000409093.1_Nonsense_Mutation_p.Y142*|LRRTM4_ENST00000409282.1_Nonsense_Mutation_p.Y143*|LRRTM4_ENST00000409911.1_Nonsense_Mutation_p.Y143*	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	142						integral to membrane		p.Y142*(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAAGCTTATTGTAGGAGAGGT	0.383000													26	87					2.79863e-10	4.00784e-10	1	1	0
EIF6	3692	broad.mit.edu	37	20	33867799	33867799	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:33867799C>A	ENST00000374450.3	-	5	756	c.492G>T	c.(490-492)aaG>aaT	p.K164N	EIF6_ENST00000374443.3_Missense_Mutation_p.K145N|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.K164N	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	164					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	p.K164N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAATTGAAGTCTTGGGATGCA	0.532000													105	365					1.31226e-28	2.59286e-28	1	1	0
CNGA3	1261	broad.mit.edu	37	2	98996642	98996642	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:98996642T>C	ENST00000393504.1	+	4	637	c.220T>C	c.(220-222)Tcg>Ccg	p.S74P	CNGA3_ENST00000409937.1_Missense_Mutation_p.S78P|CNGA3_ENST00000436404.2_Missense_Mutation_p.S74P|CNGA3_ENST00000272602.2_Missense_Mutation_p.S74P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	74					signal transduction|visual perception	integral to membrane	cGMP binding	p.S74P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTCCAGGCTGTCGCGCCTCAT	0.607000													25	100					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	24989520	24989520	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:24989520C>T	ENST00000261192.7	-	8	1354	c.828G>A	c.(826-828)ctG>ctA	p.L276L	BCAT1_ENST00000538118.1_Silent_p.L275L|BCAT1_ENST00000342945.5_Silent_p.L215L|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Silent_p.L288L|BCAT1_ENST00000539780.1_Silent_p.L239L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	276					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GAGGAGTTGCCAGTTCTTCTT	0.418000													3	37					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224093	248224093	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248224093C>A	ENST00000359959.3	+	1	110	c.110C>A	c.(109-111)gCt>gAt	p.A37D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A37D(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTCCTAATGGCTCTAATTGGA	0.393000													172	557					8.90406e-74	1.89665e-73	1	1	0
GPR82	27197	broad.mit.edu	37	X	41586498	41586498	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:41586498C>T	ENST00000302548.4	+	3	459	c.219C>T	c.(217-219)atC>atT	p.I73I	CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000318588.9_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	73						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I73I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						TCATGAGTATCTATTTCCTGA	0.393000													13	73					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59470690	59470690	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:59470690C>T	ENST00000288235.4	-	19	2350	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	651	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCTTGCTTCTCCTCTCCCTGC	0.572000													10	71					0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105467714	105467714	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:105467714G>T	ENST00000258494.9	-	2	258	c.118C>A	c.(118-120)Cac>Aac	p.H40N	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.H40N|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	40	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	p.H40N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGCGGAGGTGGCTATAGACT	0.478000													28	156					3.73148e-12	5.7171e-12	1	1	0
FLG	2312	broad.mit.edu	37	1	152279055	152279055	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152279055C>T	ENST00000368799.1	-	3	8342	c.8307G>A	c.(8305-8307)caG>caA	p.Q2769Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2769	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q2769Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTTGTGCCTGCTCATGGC	0.592000									Ichthyosis				378	1568					0	0	1	0	0
EPHX4	253152	broad.mit.edu	37	1	92495650	92495650	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:92495650G>A	ENST00000370383.4	+	1	112	c.14G>A	c.(13-15)cGg>cAg	p.R5Q		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	5						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GCGAGGCTGCGGGATTGCCTG	0.716000													5	33					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628019	46628019	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:46628019G>T	ENST00000470495.1	-	2	2420	c.973C>A	c.(973-975)Ccg>Acg	p.P325T	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.P193T|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.P325T|HOXB3_ENST00000476342.1_Missense_Mutation_p.P325T|HOXB3_ENST00000472863.1_Missense_Mutation_p.P252T|HOXB3_ENST00000490677.1_Missense_Mutation_p.P191T|HOXB3_ENST00000311626.4_Missense_Mutation_p.P325T|HOXB3_ENST00000489475.1_Missense_Mutation_p.P252T|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.P193T			P14651	HXB3_HUMAN	homeobox B3	325					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P325T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCGGGCGCCGGGGTCGGAGGG	0.697000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	135					3.59834e-05	4.14518e-05	1	1	0
CD5	921	broad.mit.edu	37	11	60885946	60885946	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:60885946T>A	ENST00000347785.3	+	3	560	c.394T>A	c.(394-396)Tgc>Agc	p.C132S		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	132	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.C132S(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GGGCCTGACCTGCTTAGGTGG	0.607000													53	163					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463539	26463539	+	Missense_Mutation	SNP	G	G	T	rs150999282		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:26463539G>T	ENST00000256737.3	+	2	973	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	ANO3_ENST00000537978.1_Missense_Mutation_p.A25S|ANO3_ENST00000525139.1_Missense_Mutation_p.A25S|ANO3_ENST00000531646.1_Missense_Mutation_p.A41S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	41						chloride channel complex	chloride channel activity	p.A41S(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCCTTGCCTCGCCCAGAGCTA	0.443000													69	295					5.61366e-43	1.17238e-42	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55155037	55155037	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:55155037G>A	ENST00000257290.5	+	20	3077	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.A676T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	916	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A916T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTACCGGATGGCCAAGCCTGA	0.557000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			15	111					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26370836	26370836	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:26370836G>C	ENST00000374276.3	-	3	607	c.371C>G	c.(370-372)tCc>tGc	p.S124C	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374278.3_Intron	NM_001004434.1	NP_001004434.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	90					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.S124C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCGGGAGGACATCCAGAG	0.582000													11	64					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137804876	137804876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137804876C>A	ENST00000371806.3	-	6	545	c.454G>T	c.(454-456)Gga>Tga	p.G152*		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	152	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CAGCCCCCTCCGTCCGTGTCC	0.642000													5	32					0.184627	0.186449	1	1	0
CRHBP	1393	broad.mit.edu	37	5	76259265	76259265	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:76259265G>T	ENST00000274368.4	+	6	1213	c.791G>T	c.(790-792)tGc>tTc	p.C264F	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	264					female pregnancy|learning or memory|signal transduction	soluble fraction		p.C264F(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GCTGATCTCTGCTACCCCTTT	0.438000													40	202					1.23103e-26	2.38627e-26	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857594	9857594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9857594C>A	ENST00000396573.2	-	14	4116	c.3807G>T	c.(3805-3807)caG>caT	p.Q1269H	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q1269H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q1269H|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1269					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGCCCAGTCCTGCTGGTAGA	0.522000													5	135					5.9392e-07	7.4574e-07	1	1	0
SYT14	255928	broad.mit.edu	37	1	210273453	210273453	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:210273453G>T	ENST00000537238.1	+	7	1088	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	SYT14_ENST00000472886.1_Missense_Mutation_p.D271Y|SYT14_ENST00000422431.1_Missense_Mutation_p.D316Y|SYT14_ENST00000399639.2_Missense_Mutation_p.D271Y|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Missense_Mutation_p.D271Y|SYT14_ENST00000367015.1_Missense_Mutation_p.D233Y|SYT14_ENST00000367019.1_Missense_Mutation_p.D271Y	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	271						integral to membrane		p.D271Y(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTTGACTATGACTCACAAGA	0.443000													21	109					2.39187e-15	3.99079e-15	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76506558	76506558	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:76506558G>T	ENST00000389840.5	-	27	4256	c.4132C>A	c.(4132-4134)Ctg>Atg	p.L1378M	DNAH17_ENST00000585328.1_Missense_Mutation_p.L1379M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAATCTGCCAGGGTCGTCTCT	0.502000													17	266					1.15088e-07	1.48142e-07	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47570974	47570974	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:47570974G>T	ENST00000273859.3	+	16	3243	c.2974G>T	c.(2974-2976)Ggg>Tgg	p.G992W		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	992					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G992W(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCGGGACTCAGGGTTACGAGC	0.483000													10	160					3.86212e-05	4.42621e-05	1	1	0
ALG11	440138	broad.mit.edu	37	13	52598371	52598371	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:52598371C>G	ENST00000521508.1	+	3	510	c.505C>G	c.(505-507)Cct>Gct	p.P169A	ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase									p.P169A(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GCAGTGTGTTCCTGATGTTTA	0.423000													28	224					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948412	82948412	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82948412C>T	ENST00000274341.4	-	3	1182	c.332G>A	c.(331-333)aGa>aAa	p.R111K	HAPLN1_ENST00000514416.1_Missense_Mutation_p.R111K	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	111	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.R111K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CAGAAACACTCTACCCTGGTA	0.443000													21	186					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175716848	175716848	+	Silent	SNP	G	G	C	rs138928707	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:175716848G>C	ENST00000443967.1	+	4	671	c.264G>C	c.(262-264)gcG>gcC	p.A88A	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Silent_p.A107A|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR					SUMO-interacting motifs containing 1									p.A88A(1)									CTGGCAAAGCGGTGATGGAAG	0.488000													27	100					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953456	38953456	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:38953456C>A	ENST00000306658.7	-	4	833	c.768G>T	c.(766-768)gcG>gcT	p.A256A		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	256	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A256A(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCAACAAAACCGCGAGGTCTA	0.617000													53	153					1.13205e-32	2.29777e-32	1	1	0
CCNE1	898	broad.mit.edu	37	19	30308116	30308116	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:30308116C>T	ENST00000262643.3	+	5	532	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CCNE1_ENST00000444983.2_Missense_Mutation_p.R70W|CCNE1_ENST00000357943.5_Missense_Mutation_p.R85W	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	85					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AGATGATGACCGGGTTTACCC	0.527000			A		serous ovarian								4	141					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40659862	40659862	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:40659862C>A	ENST00000267889.3	+	8	1636	c.1549C>A	c.(1549-1551)Ctg>Atg	p.L517M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	517	SSD.				smoothened signaling pathway	integral to membrane		p.L517M(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTCATGGTGCTGCTGGGGGT	0.612000													31	121					9.65021e-13	1.50386e-12	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248637392	248637392	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248637392C>A	ENST00000359594.2	+	1	766	c.741C>A	c.(739-741)tcC>tcA	p.S247S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			CCACCTGCTCCTCCCACATGA	0.562000													6	430					1.55469e-16	2.66271e-16	1	1	0
ADCY9	115	broad.mit.edu	37	16	4165292	4165292	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:4165292G>A	ENST00000294016.3	-	2	690	c.152C>T	c.(151-153)tCc>tTc	p.S51F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGCTAGAGGAGATGCTGTA	0.662000													5	59					0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44124506	44124506	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:44124506C>T	ENST00000416848.2	-	9	2268		c.e9-1		PUS7L_ENST00000344862.5_Splice_Site|PUS7L_ENST00000551923.1_Splice_Site|PUS7L_ENST00000431332.3_Splice_Site	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GAAGAACCACCTGTGAAAGAA	0.358000													12	53					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944912	55944912	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55944912G>T	ENST00000312298.1	+	1	819	c.819G>T	c.(817-819)gtG>gtT	p.V273V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V273V(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AAGAGAAAGTGGTTTCTATGT	0.428000													32	139					1.74807e-11	2.6083e-11	1	1	0
FAM92B	339145	broad.mit.edu	37	16	85133804	85133804	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:85133804T>A	ENST00000539556.1	-	8	849	c.694A>T	c.(694-696)Act>Tct	p.T232S		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	232										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGCAGCCGAGTGTCATAATGC	0.572000													5	34					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444306	50444306	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:50444306C>A	ENST00000331340.3	+	4	391	c.236C>A	c.(235-237)gCg>gAg	p.A79E	IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.A79E|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.A79E|IKZF1_ENST00000440768.2_Missense_Mutation_p.A79E|IKZF1_ENST00000439701.1_Missense_Mutation_p.A79E|IKZF1_ENST00000359197.5_Missense_Mutation_p.A79E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	79					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.A79E(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAGAATGTGCGGAGGATTTA	0.493000			"""D,T"""	BCL6	"""ALL, DLBCL"""								21	139					8.34094e-07	1.03097e-06	1	1	0
LIMD1	8994	broad.mit.edu	37	3	45707201	45707201	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:45707201G>A	ENST00000273317.4	+	3	1591	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	LIMD1_ENST00000465039.1_3'UTR|LIMD1_ENST00000440097.1_Missense_Mutation_p.D524N	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	524	LIM zinc-binding 1.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	p.D524N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TTGTGAAGAAGACTTCCTGGT	0.507000													26	197					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166999115	166999115	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:166999115A>T	ENST00000061240.2	+	18	3022	c.2375A>T	c.(2374-2376)gAc>gTc	p.D792V	TLL1_ENST00000507499.1_Missense_Mutation_p.D815V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	792	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D792V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AACTGGCCAGACAAGTACCCA	0.473000													11	89					0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560130	36560130	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:36560130A>G	ENST00000373461.4	+	2	462	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.Y72C	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	72	Ig-like.							p.Y72C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				TCCCCCTCCTACTCGCTGGAG	0.647000													80	173					0	0	1	0	0
KHK	3795	broad.mit.edu	37	2	27322123	27322123	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27322123G>C	ENST00000260599.6	+	6	1137	c.624G>C	c.(622-624)ttG>ttC	p.L208F	KHK_ENST00000260598.5_Missense_Mutation_p.L208F|CGREF1_ENST00000402550.1_3'UTR|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	208					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	p.L208F(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGCCTTGAGGGGCTTGT	0.572000													33	198					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113287585	113287585	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:113287585C>A	ENST00000362072.3	-	4	876	c.532_splice	c.e4+1	p.D178_splice	DRD2_ENST00000538967.1_Splice_Site_p.D178_splice|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000355319.2_Splice_Site_p.D178_splice|DRD2_ENST00000542968.1_Splice_Site_p.D178_splice|DRD2_ENST00000544518.1_Splice_Site_p.D177_splice|DRD2_ENST00000346454.3_Splice_Site_p.D178_splice	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	178					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.D178Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGAATGTACCTGCGTTATTG	0.607000													11	36					7.93312e-07	9.82539e-07	1	1	0
SGTB	54557	broad.mit.edu	37	5	64976515	64976515	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:64976515C>A	ENST00000381007.4	-	7	821	c.586G>T	c.(586-588)Gca>Tca	p.A196S		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	196							binding	p.A196S(1)		large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTCTGTTCTGCTATTTTCAGA	0.333000													17	177					7.45023e-12	1.1274e-11	1	1	0
PCK1	5105	broad.mit.edu	37	20	56139286	56139286	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:56139286G>A	ENST00000319441.4	+	7	1187	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	PCK1_ENST00000543666.1_Silent_p.V24V|PCK1_ENST00000535860.1_Silent_p.V209V	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	341					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGACTTCAGTGAAGACCAACC	0.502000													5	108					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853231	70853231	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:70853231C>A	ENST00000333538.5	+	3	1067	c.433C>A	c.(433-435)Ctc>Atc	p.L145I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	145						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L145I(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGTAAGGAGCTCAAGTACTC	0.517000													7	112					0.000157383	0.000176097	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121262964	121262964	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:121262964C>G	ENST00000297848.3	+	22	2981	c.2711C>G	c.(2710-2712)gCc>gGc	p.A904G	COL14A1_ENST00000247781.3_Missense_Mutation_p.A809G|COL14A1_ENST00000309791.4_Missense_Mutation_p.A904G|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	904	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.A904G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCCTCCCAGGCCTCAGGCTTC	0.473000													13	83					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52911461	52911461	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52911461C>A	ENST00000252242.4	-	5	1395	c.1005G>T	c.(1003-1005)ctG>ctT	p.L335L		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	335	Linker 12.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	p.L335L(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATGCTATCCAGGTCCAGGT	0.572000													39	184					3.09479e-21	5.69775e-21	1	1	0
SAMD4A	23034	broad.mit.edu	37	14	55231180	55231180	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:55231180A>G	ENST00000251091.5	+	6	1559	c.1254A>G	c.(1252-1254)acA>acG	p.T418T	SAMD4A_ENST00000554335.1_Silent_p.T506T|SAMD4A_ENST00000555192.1_Silent_p.T97T|SAMD4A_ENST00000392067.3_Silent_p.T506T|SAMD4A_ENST00000357634.3_Silent_p.T505T	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	506					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGTGTGCACACAGCTCTTGG	0.398000													8	385					0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207008741	207008741	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207008741C>A	ENST00000233190.5	-	10	1254		c.e10+1		NDUFS1_ENST00000449699.1_Splice_Site|NDUFS1_ENST00000432169.1_Splice_Site|NDUFS1_ENST00000440274.1_Splice_Site|NDUFS1_ENST00000423725.1_Splice_Site|NDUFS1_ENST00000457011.1_Splice_Site|NDUFS1_ENST00000455934.2_Splice_Site	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TCAAATTTTACCATTCCAGCT	0.373000													18	101					6.94344e-10	9.73906e-10	1	1	0
OR2D3	120775	broad.mit.edu	37	11	6942258	6942258	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6942258C>A	ENST00000317834.3	+	1	54	c.26C>A	c.(25-27)aCa>aAa	p.T9K		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T9K(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGTGCCAAACAGGTAAACAG	0.403000													12	78					1.5739e-10	2.28053e-10	1	1	0
ITGB5	3693	broad.mit.edu	37	3	124492670	124492670	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:124492670G>A	ENST00000296181.4	-	11	2079	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	595	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.R595W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCTCTGCCCCGGCATGTGCTG	0.587000													26	154					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98820417	98820417	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:98820417C>A	ENST00000266058.4	-	9	1166	c.921G>T	c.(919-921)ctG>ctT	p.L307L	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Silent_p.L307L|SLIT1_ENST00000371070.4_Silent_p.L307L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	307	LRRNT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.L307L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGTCTCGGGCAGGTTGGCCG	0.647000													33	106					3.93418e-24	7.48439e-24	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982526	7982526	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7982526C>A	ENST00000328600.2	-	2	794	c.633G>T	c.(631-633)gtG>gtT	p.V211V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	211	NACHT.						ATP binding	p.V211V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAGCAGGACCACTTCTTTGC	0.537000													8	73					5.4927e-09	7.43255e-09	1	1	0
SMYD1	150572	broad.mit.edu	37	2	88409926	88409926	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:88409926C>A	ENST00000419482.2	+	10	1453	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L	SMYD1_ENST00000444564.2_Missense_Mutation_p.F443L|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.F456L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGAACGAATTCATGTACTACA	0.567000													5	45					0.014758	0.0152742	1	1	0
CD93	22918	broad.mit.edu	37	20	23066263	23066263	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:23066263C>T	ENST00000246006.4	-	1	714	c.567G>A	c.(565-567)cgG>cgA	p.R189R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	189					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R189R(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGGCCAGAGGCCGGCACATGC	0.642000													35	120					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122734967	122734967	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:122734967G>C	ENST00000306467.5	-	5	779	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	CEP120_ENST00000395431.2_Missense_Mutation_p.L159V|CEP120_ENST00000306481.6_Missense_Mutation_p.L133V|CEP120_ENST00000328236.5_Missense_Mutation_p.L159V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	159						centrosome		p.L159V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTCCAGCCAGGATGGCAGGT	0.383000													25	85					0	0	1	0	0
OSTC	58505	broad.mit.edu	37	4	109571951	109571951	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:109571951G>T	ENST00000361564.4	+	1	211		c.e1+1		OSTC_ENST00000512478.2_Splice_Site|OSTC_ENST00000505745.1_Splice_Site	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)							integral to membrane|oligosaccharyltransferase complex		p.?(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ATCACCGGAGGTAACTCGGGC	0.632000													7	93					0.0381472	0.0389886	1	1	0
ACACB	32	broad.mit.edu	37	12	109577747	109577747	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:109577747T>C	ENST00000338432.7	+	2	656	c.537T>C	c.(535-537)tcT>tcC	p.S179S	ACACB_ENST00000377848.3_Silent_p.S179S|ACACB_ENST00000377854.5_Silent_p.S179S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	179					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	ACGAGGACTCTGTTGCTGGCT	0.577000													16	233					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406302	55406302	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55406302C>G	ENST00000314612.2	+	1	469	c.469C>G	c.(469-471)Cag>Gag	p.Q157E		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q157E(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTCTGCCAGTCAGTTTCTTCT	0.398000													18	127					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18369250	18369250	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:18369250G>C	ENST00000265963.4	+	8	1113	c.953G>C	c.(952-954)gGa>gCa	p.G318A	GTF2H1_ENST00000530496.2_Missense_Mutation_p.G6A|GTF2H1_ENST00000534641.1_Missense_Mutation_p.G202A|GTF2H1_ENST00000524753.4_Missense_Mutation_p.G114A|GTF2H1_ENST00000453096.2_Missense_Mutation_p.G318A	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	318					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	p.G318A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTGGCAGCTGGACTCAGAAAA	0.418000								Nucleotide excision repair (NER)					7	94					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34884875	34884875	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:34884875G>T	ENST00000415930.3	+	12	1169	c.999G>T	c.(997-999)ctG>ctT	p.L333L	GPI_ENST00000356487.5_Silent_p.L322L|GPI_ENST00000586425.1_Silent_p.L322L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	322					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	p.L322L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGCTGGCCCTGCTGGGTATCT	0.602000													108	244					4.26718e-67	9.06592e-67	1	1	0
NHS	4810	broad.mit.edu	37	X	17745107	17745107	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:17745107A>G	ENST00000380060.3	+	6	3156	c.2818A>G	c.(2818-2820)Aga>Gga	p.R940G	NHS_ENST00000398097.3_Missense_Mutation_p.R784G	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	940						nucleus		p.R784G(1)|p.R940G(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGATCCTTATAGATCTCTATC	0.418000													19	142					0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502317	16502317	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:16502317T>A	ENST00000396652.1	-	5	1261	c.549A>T	c.(547-549)gtA>gtT	p.V183V	SOSTDC1_ENST00000307068.4_Silent_p.V159V			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	159					Wnt receptor signaling pathway			p.V159V(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGGCAGTGACTACTGTGATTT	0.552000													96	305					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092529	34092529	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:34092529T>A	ENST00000397527.1	+	30	7052	c.6332T>A	c.(6331-6333)cTg>cAg	p.L2111Q	CEP250_ENST00000342580.4_Missense_Mutation_p.L2055Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2111	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.L2111Q(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CAGGAGATTCTGGAGCTGAGG	0.498000													67	216					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94772489	94772489	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:94772489C>T	ENST00000341584.3	-	4	1097	c.951G>A	c.(949-951)gaG>gaA	p.E317E		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	317					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.E317E(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGCCCATTTCCTCCAGCACAT	0.517000													7	113					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70713110	70713110	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:70713110G>T	ENST00000229195.3	+	4	783	c.204G>T	c.(202-204)ctG>ctT	p.L68L	CNOT2_ENST00000418359.3_Silent_p.L68L	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	68					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.L68L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CAGGTCAGCTGTCTCAGTTTG	0.333000													15	121					3.32936e-07	4.22798e-07	1	1	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971073	31971073	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:31971073C>A	ENST00000334897.3	-	1	146	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	41						intermediate filament		p.G41C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						TAGCCATGACCATAGCCACAG	0.557000													19	128					1.37522e-17	2.40224e-17	1	1	0
AZI1	22994	broad.mit.edu	37	17	79166536	79166536	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:79166536C>T	ENST00000269392.4	-	19	2685	c.2438_splice	c.e19+1	p.R813_splice	AZI1_ENST00000450824.2_Splice_Site_p.R810_splice|AZI1_ENST00000575907.1_Intron|AZI1_ENST00000374782.3_Intron	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	813					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGGCGGCACCTGGCTGCCTG	0.726000													6	50					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433201	55433201	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55433201T>C	ENST00000314259.3	+	1	588	c.559T>C	c.(559-561)Tgc>Cgc	p.C187R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C187L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GACACTTGCCTGCACGGACAC	0.433000													49	198					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36352122	36352122	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36352122G>T	ENST00000360202.5	+	9	1353	c.1155G>T	c.(1153-1155)cgG>cgT	p.R385R	KIRREL2_ENST00000592409.1_Silent_p.R385R|KIRREL2_ENST00000347900.6_Silent_p.R335R|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Silent_p.R365R|KIRREL2_ENST00000262625.7_Silent_p.R385R	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	385	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane		p.R385R(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGGCCTGCGGGGCGGCGCCG	0.697000													5	45					0.0215528	0.0221851	1	1	0
CCDC18	343099	broad.mit.edu	37	1	93691946	93691946	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:93691946G>C	ENST00000343253.7	+	17	2731	c.2229G>C	c.(2227-2229)ttG>ttC	p.L743F	CCDC18_ENST00000401026.3_Missense_Mutation_p.L744F|CCDC18_ENST00000338949.4_Missense_Mutation_p.L499F|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000334652.5_Missense_Mutation_p.L39F|CCDC18_ENST00000557479.1_Missense_Mutation_p.L862F			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	743								p.L862F(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTTGCATTTGAATCAATTGG	0.279000													16	95					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119063892	119063892	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:119063892C>A	ENST00000503566.2	-	4	317	c.318G>T	c.(316-318)gaG>gaT	p.E106D	CCDC153_ENST00000415318.1_Missense_Mutation_p.E106D			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	106								p.E20D(1)|p.E106D(1)		lung(3)|stomach(1)	4						TGACTTCTTCCTCCAGCTGCT	0.617000													21	170					1.10923e-09	1.54262e-09	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31318499	31318499	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:31318499C>A	ENST00000269197.5	+	11	1131	c.1131C>A	c.(1129-1131)aaC>aaA	p.N377K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGGACCAAACAACGCTGGAG	0.438000													6	48					8.12818e-05	9.18253e-05	1	1	0
ABCA9	10350	broad.mit.edu	37	17	66980199	66980199	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:66980199C>A	ENST00000340001.4	-	35	4708	c.4497G>T	c.(4495-4497)ctG>ctT	p.L1499L	ABCA9_ENST00000453985.2_Silent_p.L1461L|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1499	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.L1499L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACTCACCTCAGCCTTCCTG	0.592000													68	146					3.1711e-36	6.53922e-36	1	1	0
TMUB1	83590	broad.mit.edu	37	7	150779566	150779566	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:150779566C>A	ENST00000392818.3	-	2	442	c.85G>T	c.(85-87)Gtc>Ttc	p.V29F	TMUB1_ENST00000476627.1_Missense_Mutation_p.V29F|TMUB1_ENST00000297533.4_Missense_Mutation_p.V29F|TMUB1_ENST00000462940.1_Missense_Mutation_p.V29F|TMUB1_ENST00000482202.1_Missense_Mutation_p.V29F	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	29						cytoplasm|integral to membrane|nucleus		p.V29F(1)		endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCGTTGAGACCCAGGCAAGG	0.662000													25	189					1.1804e-14	1.93917e-14	1	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143959748	143959748	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:143959748G>T	ENST00000409869.1	+	4	388	c.211G>T	c.(211-213)Gtc>Ttc	p.V71F	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.V71F			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	71					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	p.V71F(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTTGAAAGATGTCATTCCTCC	0.323000													22	121					2.44723e-14	3.97776e-14	1	1	0
OR4C46	119749	broad.mit.edu	37	11	51515980	51515980	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:51515980A>C	ENST00000328188.1	+	1	699	c.699A>C	c.(697-699)aaA>aaC	p.K233N		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CAAGGCACAAAGCCCTCTCCA	0.473000													10	184					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	11058274	11058274	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:11058274C>A	ENST00000416569.2	-	1	601	c.575G>T	c.(574-576)gGg>gTg	p.G192V	XKR6_ENST00000297303.4_Missense_Mutation_p.G192V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	192						integral to membrane		p.G192V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCGCCCAGCCCGCCGCCCGT	0.721000													20	66					1.2644e-06	1.55814e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179648929	179648929	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179648929G>T	ENST00000589042.1	-	16	2867	c.2643C>A	c.(2641-2643)ttC>ttA	p.F881L	TTN_ENST00000359218.5_Missense_Mutation_p.F835L|TTN_ENST00000460472.2_Missense_Mutation_p.F835L|TTN_ENST00000342175.6_Missense_Mutation_p.F835L|TTN_ENST00000591111.1_Missense_Mutation_p.F881L|TTN_ENST00000360870.5_Missense_Mutation_p.F881L|TTN_ENST00000342992.6_Missense_Mutation_p.F881L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	881							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F835L(3)|p.F881L(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCGAAGGGGAACTGTGGCA	0.537000													37	198					7.53189e-24	1.42844e-23	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71697944	71697944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:71697944C>A	ENST00000568954.1	-	13	2221	c.1843G>T	c.(1843-1845)Gga>Tga	p.G615*	PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.G650*|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.G615*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.G615*|PHLPP2_ENST00000393524.2_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	615						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.G615*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTCTCCTCTCCAGTGCAGGCG	0.473000													21	107					3.62473e-10	5.15182e-10	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274316	51274316	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:51274316C>T	ENST00000270590.4	+	1	596	c.459C>T	c.(457-459)cgC>cgT	p.R153R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	153						integral to plasma membrane	N-formyl peptide receptor activity	p.R153R(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGAACCACCGCACTGTGCAGC	0.587000													53	159					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47268094	47268094	+	Missense_Mutation	SNP	C	C	A	rs138988694		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:47268094C>A	ENST00000396220.1	-	22	2517	c.2495G>T	c.(2494-2496)cGg>cTg	p.R832L	PREX1_ENST00000371941.3_Missense_Mutation_p.R832L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	832					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R832L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGGCTCAGCCGGGGACCCAG	0.612000													17	118					1.99824e-07	2.55608e-07	1	1	0
DTNA	1837	broad.mit.edu	37	18	32459515	32459515	+	Splice_Site	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:32459515A>T	ENST00000283365.9	+	19	2093	c.1741_splice	c.e19-1	p.E581_splice	DTNA_ENST00000591182.1_Splice_Site_p.E286_splice|DTNA_ENST00000269192.7_Splice_Site_p.E347_splice|DTNA_ENST00000444659.1_Splice_Site_p.E638_splice|DTNA_ENST00000590831.2_Splice_Site_p.E64_splice|DTNA_ENST00000399121.5_Splice_Site_p.E585_splice|DTNA_ENST00000399113.3_Splice_Site_p.E638_splice|DTNA_ENST00000399097.3_Splice_Site_p.E286_splice|DTNA_ENST00000269190.7_Splice_Site_p.E639_splice|DTNA_ENST00000598142.1_Splice_Site_p.E581_splice|DTNA_ENST00000556414.3_Splice_Site_p.E290_splice|DTNA_ENST00000595022.1_Splice_Site_p.E578_splice|DTNA_ENST00000601125.1_Splice_Site_p.E260_splice|DTNA_ENST00000598334.1_Splice_Site_p.E578_splice	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	638					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.E286V(1)|p.E638V(1)|p.E639V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TATCTGCTAGAGGTTGGGAGT	0.398000													17	87					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191941029	191941029	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:191941029A>G	ENST00000392320.2	-	4	610	c.296T>C	c.(295-297)aTg>aCg	p.M99T	STAT4_ENST00000358470.4_Missense_Mutation_p.M99T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	99					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.M99T(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGCTACATGCATTGGATTTCC	0.343000													15	144					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532432	47532432	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:47532432A>T	ENST00000300527.4	+	3	759	c.655A>T	c.(655-657)Atg>Ttg	p.M219L	COL6A2_ENST00000357838.4_Missense_Mutation_p.M219L|COL6A2_ENST00000409416.1_Missense_Mutation_p.M219L|COL6A2_ENST00000397763.1_Missense_Mutation_p.M219L|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000310645.5_Missense_Mutation_p.M219L	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	219	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTACGCCACCATGCTGCCCGA	0.677000													10	62					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99715818	99715818	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:99715818G>T	ENST00000524871.1	+	6	691		c.e6-1		CNTN5_ENST00000418526.2_Splice_Site|CNTN5_ENST00000279463.3_Splice_Site|CNTN5_ENST00000527185.1_Splice_Site|CNTN5_ENST00000528682.1_Splice_Site	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion	anchored to membrane|plasma membrane	protein binding	p.?(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTTTCCTAAGATGGCTTCGA	0.343000													17	64					4.7546e-09	6.46226e-09	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803359	185803359	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:185803359C>A	ENST00000302277.6	+	4	3830	c.3236C>A	c.(3235-3237)aCa>aAa	p.T1079K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1079						intracellular	zinc ion binding	p.T1079K(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCCCCTAGCACACCTCTGCAG	0.517000													14	163					1.5842e-08	2.10769e-08	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61985943	61985943	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:61985943C>A	ENST00000409186.1	-	5	4394	c.2289G>T	c.(2287-2289)ccG>ccT	p.P763P	PCDH20_ENST00000409204.4_Silent_p.P763P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	736	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P763P(1)|p.P736P(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTTCTGTAACCGGGGAGCCTG	0.458000													38	135					3.76114e-14	6.07321e-14	1	1	0
CIT	11113	broad.mit.edu	37	12	120146113	120146113	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:120146113C>A	ENST00000392521.2	-	40	5137	c.5082G>T	c.(5080-5082)cgG>cgT	p.R1694R	CIT_ENST00000261833.7_Silent_p.R1652R|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1652	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.R1694R(1)|p.R1680R(1)|p.R1652R(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GACACAGTGCCCGCTCTTCTC	0.507000													20	76					1.01871e-10	1.48045e-10	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24802765	24802765	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:24802765G>T	ENST00000395799.3	+	6	2931	c.2802G>T	c.(2800-2802)tgG>tgT	p.W934C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W934C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	934	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTCTAGGTTGGGGAGATTCGT	0.473000													6	117					0.217242	0.218667	1	1	0
CCKBR	887	broad.mit.edu	37	11	6292387	6292387	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:6292387C>T	ENST00000525462.1	+	4	1168	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	CCKBR_ENST00000532715.1_Missense_Mutation_p.P236S|CCKBR_ENST00000334619.2_Missense_Mutation_p.P320S|CCKBR_ENST00000532396.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	320					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.P389S(1)|p.P320S(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGGCTCCCGGCCCACCCAGGC	0.607000													24	112					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955660	113955660	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:113955660C>T	ENST00000482457.2	-	1	765	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	88						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCGACCTTTTCAGGAAAGGCT	0.527000													6	48					0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113265779	113265779	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:113265779G>A	ENST00000369630.3	+	3	474	c.257G>A	c.(256-258)tGc>tAc	p.C86Y	FAM19A3_ENST00000361886.3_Missense_Mutation_p.C86Y			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	86						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCCCTCCTGCGTGGACGGT	0.637000													6	35					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65993515	65993515	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65993515T>G	ENST00000443035.3	-	19	2790	c.2575A>C	c.(2575-2577)Acc>Ccc	p.T859P	DENND4A_ENST00000431932.2_Missense_Mutation_p.T859P	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GAAGGCCAGGTACTTTCCAAA	0.294000													4	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403316	179403316	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179403316C>T	ENST00000589042.1	-	354	99464	c.99240G>A	c.(99238-99240)ggG>ggA	p.G33080G	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.G24140G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Silent_p.G24015G|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.G24207G|TTN_ENST00000591111.1_Silent_p.G31439G|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Silent_p.G30512G|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000415561.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31439							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G24207G(1)|p.G30510G(1)|p.G30512G(1)|p.G24140G(1)|p.G24015G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTGCTCAGCCCAGTCTCAT	0.393000													32	172					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672758	186672758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:186672758C>A	ENST00000343098.5	+	17	18992	c.18992C>A	c.(18991-18993)cCt>cAt	p.P6331H	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6242H	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.P940H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CCTACTGTGCCTGTAGCTGAT	0.313000													17	84					1.15919e-05	1.37005e-05	1	1	0
SDK1	221935	broad.mit.edu	37	7	4116810	4116810	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4116810G>T	ENST00000404826.2	+	21	3330	c.3191G>T	c.(3190-3192)gGa>gTa	p.G1064V	SDK1_ENST00000389531.3_Missense_Mutation_p.G1064V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1064					cell adhesion	integral to membrane		p.G1064L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATTTCTTCTGGAGTGCCCCCA	0.557000													12	78					2.80697e-09	3.83849e-09	1	1	0
CEP164	22897	broad.mit.edu	37	11	117261501	117261501	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:117261501G>T	ENST00000278935.3	+	16	2090	c.1943G>T	c.(1942-1944)aGg>aTg	p.R648M	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	648	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.R648M(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGTTCCTTGAGGGAGCGGCTG	0.537000													54	248					7.89702e-26	1.51999e-25	1	1	0
SAMD14	201191	broad.mit.edu	37	17	48192998	48192998	+	Nonsense_Mutation	SNP	G	G	T	rs149647865		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:48192998G>T	ENST00000330175.4	-	7	1069	c.752C>A	c.(751-753)tCg>tAg	p.S251*	SAMD14_ENST00000503131.1_Nonsense_Mutation_p.S251*	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	251										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGTGCTACCCGAGGATGCTGA	0.607000													11	344					0.00010058	0.000113314	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11521426	11521426	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:11521426G>A	ENST00000423059.3	-	7	2257	c.2006C>T	c.(2005-2007)gCg>gTg	p.A669V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	669	TSP type-1 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCTTCACCCGCATAGGCCAG	0.488000										HNSCC(18;0.044)			4	190					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50818978	50818978	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50818978G>C	ENST00000374115.3	+	1	632	c.192G>C	c.(190-192)atG>atC	p.M64I	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	64					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.M64I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TCGCCCACATGCGCGGGGGCG	0.662000													9	38					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790177	40790177	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:40790177C>A	ENST00000373198.3	-	18	2798	c.2563G>T	c.(2563-2565)Ggc>Tgc	p.G855C	PTPRT_ENST00000373187.1_Missense_Mutation_p.G833C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G842C|PTPRT_ENST00000373184.1_Missense_Mutation_p.G823C|PTPRT_ENST00000373201.1_Missense_Mutation_p.G823C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G832C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G836C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	833					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D854_G855>EC(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCGCGGCTGCCATCTGCTTCG	0.597000													29	108					1.56442e-22	2.92406e-22	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817798	77817798	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:77817798C>G	ENST00000334306.2	-	1	1204	c.1205G>C	c.(1204-1206)aGt>aCt	p.S402T		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	402								p.S402T(1)									ACTGCCATCACTCTCCTGGTC	0.582000													31	221					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643680	52643680	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:52643680T>C	ENST00000356770.4	-	15	2122	c.2120A>G	c.(2119-2121)aAt>aGt	p.N707S	PBRM1_ENST00000409767.1_Missense_Mutation_p.N754S|PBRM1_ENST00000410007.1_Missense_Mutation_p.N739S|PBRM1_ENST00000296302.7_Missense_Mutation_p.N739S|PBRM1_ENST00000409114.3_Missense_Mutation_p.N754S|PBRM1_ENST00000409057.1_Missense_Mutation_p.N739S|PBRM1_ENST00000394830.3_Missense_Mutation_p.N739S|PBRM1_ENST00000337303.4_Missense_Mutation_p.N739S			Q86U86	PB1_HUMAN	polybromo 1	739	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Y738_P741>*(2)|p.N739S(2)|p.Y706_P709>*(1)|p.N707S(1)		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)		CTCCGGCTCATTGTATGTACA	0.423000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								67	179					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44527217	44527217	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:44527217G>T	ENST00000260649.6	+	5	1075	c.999G>T	c.(997-999)aaG>aaT	p.K333N	SLC3A1_ENST00000409294.1_5'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.K55N|SLC3A1_ENST00000409387.1_Missense_Mutation_p.K333N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.K333N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.K333N|SLC3A1_ENST00000410056.3_Missense_Mutation_p.K333N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	333					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	p.K333N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAGTAAATAAGACCCAAATCC	0.383000													13	142					5.50884e-06	6.56782e-06	1	1	0
PDPR	55066	broad.mit.edu	37	16	70154618	70154618	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:70154618G>T	ENST00000288050.4	+	3	1180	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	PDPR_ENST00000568530.1_Missense_Mutation_p.G75C|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	75					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.G75C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTTGGAGCAGGGCAGGTAAGG	0.512000													11	89					5.50884e-06	6.56782e-06	1	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146224	31146224	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:31146224C>A	ENST00000304166.4	+	16	1622	c.1333C>A	c.(1333-1335)Cag>Aag	p.Q445K	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Q424K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Q501K|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Q473K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	445					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.Q445K(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGGGGCACCCAGCTCTCCAT	0.602000													19	103					1.56452e-12	2.42122e-12	1	1	0
FAM177A1	283635	broad.mit.edu	37	14	35522515	35522515	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:35522515A>G	ENST00000396472.1	+	4	587	c.128A>G	c.(127-129)gAa>gGa	p.E43G	FAM177A1_ENST00000382406.3_Missense_Mutation_p.E43G|FAM177A1_ENST00000280987.4_Missense_Mutation_p.E66G	NM_001079519.1	NP_001072987.1	Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	43								p.E43G(1)		breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						GAAAATGTAGAACTGGGAGTC	0.338000													17	95					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110394763	110394763	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:110394763G>A	ENST00000378402.5	+	4	484	c.380G>A	c.(379-381)tGc>tAc	p.C127Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	127	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C127Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATAACACCTGCAAAGGTCAC	0.408000										HNSCC(38;0.096)			26	179					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537045	65537045	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:65537045C>A	ENST00000310193.3	-	2	347	c.174G>T	c.(172-174)gtG>gtT	p.V58V		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	58					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.V58V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGTTCAGGACCACTCCAAGAT	0.383000													32	231					6.03168e-27	1.17384e-26	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176526098	176526098	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:176526098G>T	ENST00000367662.3	+	2	1804	c.640G>T	c.(640-642)Ggt>Tgt	p.G214C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G214C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	214					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G214S(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGAGACTCCGGTATCTCTTC	0.567000													64	202					9.04393e-38	1.87918e-37	1	1	0
NLRP13	126204	broad.mit.edu	37	19	56443578	56443578	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56443578G>T	ENST00000588751.1	-	1	124	c.100C>A	c.(100-102)Ctt>Att	p.L34I	NLRP13_ENST00000342929.3_Missense_Mutation_p.L34I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	34	DAPIN.						ATP binding	p.L34I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCAAGCAAAGCTTGAATTCC	0.562000													34	149					6.90743e-12	1.04979e-11	1	1	0
IGLV4-3	28786	broad.mit.edu	37	22	23213916	23213916	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:23213916C>T	ENST00000390318.2	+	0	105																											TGTGCTGACTCAGCCCCCGTC	0.532000													27	157					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40979846	40979846	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:40979846G>T	ENST00000313164.9	+	17	2544	c.2185G>T	c.(2185-2187)Gct>Tct	p.A729S	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	729	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.A729S(1)					Ovarian(839;0.0112)				GGATGTATGTGCTCAAGATGA	0.393000													8	75					0.000157383	0.000176097	1	1	0
ZNF480	147657	broad.mit.edu	37	19	52825630	52825630	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52825630G>T	ENST00000595962.1	+	5	1193	c.1127G>T	c.(1126-1128)tGt>tTt	p.C376F	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.C299F|ZNF480_ENST00000334564.7_Missense_Mutation_p.C333F	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.C376F(1)|p.C357F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAATGAATGTGGAAAGGTC	0.358000													40	90					3.61848e-18	6.38433e-18	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134268	91134268	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:91134268G>T	ENST00000373094.1	+	2	3874	c.3029G>T	c.(3028-3030)aGa>aTa	p.R1010I	PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1010I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1010I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R1010I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R1010I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1010I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1010					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R1010I(6)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTACACACCAGACCGGTAGGT	0.398000													31	97					7.72975e-29	1.53088e-28	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48162380	48162380	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:48162380A>T	ENST00000311303.3	-	9	1850	c.1505T>A	c.(1504-1506)gTg>gAg	p.V502E	ABCC12_ENST00000416054.1_Missense_Mutation_p.V502E|ABCC12_ENST00000448542.1_Missense_Mutation_p.V502E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	502	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V502E(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTTTCTCACCACAAAGCTTAT	0.537000													44	240					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56504070	56504070	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:56504070C>A	ENST00000370754.5	-	21	2851	c.2852G>T	c.(2851-2853)cGg>cTg	p.R951L	DST_ENST00000244364.6_Missense_Mutation_p.R447L|DST_ENST00000361203.3_Missense_Mutation_p.R773L|DST_ENST00000421834.2_Missense_Mutation_p.R773L|DST_ENST00000446842.2_Missense_Mutation_p.R447L|DST_ENST00000370769.4_Missense_Mutation_p.R773L|DST_ENST00000312431.6_Missense_Mutation_p.R773L|DST_ENST00000370765.6_Missense_Mutation_p.R447L|DST_ENST00000518935.1_Missense_Mutation_p.R447L|DST_ENST00000370788.2_Missense_Mutation_p.R773L			Q03001	DYST_HUMAN	dystonin	773					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.R447L(3)|p.R773L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATAGTTAACCGGGCTGGATG	0.338000													6	72					0.0293803	0.0301161	1	1	0
LCE2B	26239	broad.mit.edu	37	1	152659626	152659626	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152659626T>A	ENST00000368780.3	+	2	361	c.307T>A	c.(307-309)Tgc>Agc	p.C103S	LCE2B_ENST00000417924.2_Missense_Mutation_p.C103S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	103	Cys-rich.				keratinization			p.C103S(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGGCTGCTGCCACAGCTC	0.592000													85	178					0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87101776	87101776	+	RNA	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:87101776T>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA														p.Y146_G147>*(1)									TGGCTACCTATGGGCCTCGAG	0.323000													13	134					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45495057	45495057	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:45495057G>T	ENST00000361462.2	+	8	3493	c.3310G>T	c.(3310-3312)Gta>Tta	p.V1104L	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.V1104L|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1104	Ser-rich.						binding	p.V1104L(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGAAGACTCAGTAGTAGTTGT	0.323000													13	84					0.000219431	0.00024441	1	1	0
RBPJL	11317	broad.mit.edu	37	20	43941003	43941003	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:43941003C>G	ENST00000343694.3	+	6	659	c.587C>G	c.(586-588)tCg>tGg	p.S196W	RBPJL_ENST00000372743.1_Missense_Mutation_p.S196W|RBPJL_ENST00000372741.3_Missense_Mutation_p.S196W	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	196					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S196W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				TCGAAGCCCTCGCAGAAGAAG	0.647000													13	78					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178305762	178305762	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:178305762G>T	ENST00000264167.4	+	6	853	c.707G>T	c.(706-708)gGt>gTt	p.G236V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	236	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.G236V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ATACCAATTGGTGGTAGGTAT	0.269000													16	88					1.15088e-07	1.48142e-07	1	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148685935	148685935	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:148685935C>A	ENST00000296721.4	+	6	601	c.503C>A	c.(502-504)gCa>gAa	p.A168E	AFAP1L1_ENST00000522492.1_3'UTR|AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A168E	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	168							protein binding	p.A168E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACCCTGCAACCAGGGTG	0.572000													4	30					3.59834e-05	4.14518e-05	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56473435	56473435	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56473435C>T	ENST00000291971.3	+	4	2116	c.2045C>T	c.(2044-2046)gCg>gTg	p.A682V	NLRP8_ENST00000590542.1_Missense_Mutation_p.A682V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	682						cytoplasm	ATP binding	p.A682V(1)		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)		CCATGTAGAGCGCCAGAGAGC	0.488000													53	170					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517593	158517593	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158517593G>T	ENST00000302617.3	-	1	302	c.303C>A	c.(301-303)ggC>ggA	p.G101G		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G101G(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAGTCATGCAGCCATTGAAGG	0.453000													22	186					1.10513e-12	1.71677e-12	1	1	0
LEF1	51176	broad.mit.edu	37	4	108985506	108985506	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:108985506T>A	ENST00000379951.2	-	9	2255	c.1067A>T	c.(1066-1068)cAg>cTg	p.Q356L	LEF1_ENST00000265165.1_Missense_Mutation_p.Q384L|LEF1_ENST00000438313.2_Missense_Mutation_p.Q356L|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_Missense_Mutation_p.Q288L	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	384					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.Q384L(1)|p.Q288L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGCAGATTCCTGTAGTTTCTC	0.428000													7	78					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722377	7722377	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:7722377G>C	ENST00000572933.1	+	71	12271	c.10811G>C	c.(10810-10812)cGg>cCg	p.R3604P	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3604P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3604					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3604P(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GACTTGGCGCGGGAGGTAAGC	0.602000													9	26					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175975	112175975	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:112175975G>A	ENST00000457016.1	+	16	5064	c.4684G>A	c.(4684-4686)Gac>Aac	p.D1562N	APC_ENST00000257430.4_Missense_Mutation_p.D1562N|APC_ENST00000508376.2_Missense_Mutation_p.D1562N|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1562	Asp/Glu-rich (acidic).|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.D1562N(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTGAAAAGGACCTATTAGA	0.348000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	142					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836100	247836100	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247836100T>A	ENST00000359688.2	-	1	265	c.244A>T	c.(244-246)Atg>Ttg	p.M82L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATGTTAGCATGGTCCCCAGC	0.468000													21	75					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105162908	105162908	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:105162908G>T	ENST00000369797.3	+	4	362	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	90	S1 motif 1.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.V90M(1)|p.V90L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTGGGTTGCGTGAAAGAGGT	0.453000													76	247					4.8811e-34	9.97336e-34	1	1	0
DDHD1	80821	broad.mit.edu	37	14	53619576	53619576	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:53619576C>A	ENST00000357758.3	-	1	424	c.241G>T	c.(241-243)Gac>Tac	p.D81Y	DDHD1_ENST00000323669.5_Missense_Mutation_p.D81Y|DDHD1_ENST00000395606.1_Missense_Mutation_p.D81Y	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	81					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.D81Y(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGGCAGGGGTCCAGCGCGAGG	0.711000													8	52					3.07112e-06	3.71743e-06	1	1	0
MUC17	140453	broad.mit.edu	37	7	100675863	100675863	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100675863G>C	ENST00000306151.4	+	3	1230	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	389	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S389T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACTCTTAGTGAAGGAAGC	0.458000													65	505					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940755	86940755	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:86940755C>T	ENST00000441037.2	+	17	2490	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	AGBL1_ENST00000389298.3_Missense_Mutation_p.P530S|AGBL1_ENST00000421325.2_Missense_Mutation_p.P799S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	799					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.P799S(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CATGCTCAACCCAGATGGTGT	0.502000													26	204					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40730835	40730835	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:40730835C>A	ENST00000373198.3	-	27	3944	c.3709G>T	c.(3709-3711)Gac>Tac	p.D1237Y	PTPRT_ENST00000373187.1_Missense_Mutation_p.D1215Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1224Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1225Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1205Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1214Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1218Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1215	Tyrosine-protein phosphatase 2.		M -> L (in a colorectal cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCAGCGGTCCAGAGGCAGC	0.572000													10	162					7.48243e-07	9.33783e-07	1	1	0
OR13C4	138804	broad.mit.edu	37	9	107288831	107288831	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107288831G>A	ENST00000277216.3	-	1	659	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTAGAGGATGAACATATAGG	0.408000													28	168					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164739041	164739041	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:164739041C>A	ENST00000264382.3	-	27	3292	c.3230G>T	c.(3229-3231)cGa>cTa	p.R1077L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1077	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R1077L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCTTCTCCGTCGAATCTGGAT	0.348000										HNSCC(35;0.089)			46	168					4.64027e-19	8.29439e-19	1	1	0
IRS4	8471	broad.mit.edu	37	X	107977664	107977664	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:107977664G>T	ENST00000372129.2	-	1	1987	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	637	Pro-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.P637P(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGCTGGTGGGGGTGGAGGAG	0.473000													45	213					2.37825e-27	4.65046e-27	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064401	7064401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7064401C>A	ENST00000299481.4	+	4	1490	c.1144C>A	c.(1144-1146)Caa>Aaa	p.Q382K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	382	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.Q382K(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCTGAAGCAGCAAATGGAGAA	0.473000													25	179					8.24728e-16	1.39021e-15	1	1	0
ZNF763	284390	broad.mit.edu	37	19	12087964	12087964	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:12087964A>T	ENST00000343949.5	+	2	279	c.124A>T	c.(124-126)Aac>Tac	p.N42Y	ZNF763_ENST00000538752.1_Missense_Mutation_p.N59Y|ZNF763_ENST00000591944.1_Missense_Mutation_p.N108Y|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000358987.3_Missense_Mutation_p.N39Y|ZNF763_ENST00000592625.1_Missense_Mutation_p.N39Y|ZNF763_ENST00000590798.1_Missense_Mutation_p.N59Y	NM_001012753.1	NP_001012771.1			zinc finger protein 763									p.N41Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AACTTTCAGGAACCTGACCTC	0.453000													35	183					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201825054	201825054	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:201825054G>A	ENST00000361565.4	+	10	1183	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	372					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCAAATCACTGAGGAGCAGGT	0.343000													4	138					0	0	1	0	0
KRTCAP2	200185	broad.mit.edu	37	1	155145212	155145212	+	Splice_Site	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:155145212A>G	ENST00000295682.4	-	2	268		c.e2+1		KRTCAP2_ENST00000490672.1_5'UTR	NM_173852.3	NP_776251.1	Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2							integral to membrane		p.?(1)		endometrium(2)|large_intestine(1)|lung(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGGAGGATACAGTGAGCGA	0.627000													32	117					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64609540	64609540	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:64609540A>T	ENST00000311915.8	-	2	466	c.439T>A	c.(439-441)Tac>Aac	p.Y147N	C12orf66_ENST00000398055.3_Missense_Mutation_p.Y147N|C12orf66_ENST00000544871.1_Missense_Mutation_p.Y94N			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	147								p.Y147N(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTGAGGGTGTACATCTTCTCA	0.507000													4	71					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329184	18329184	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:18329184G>T	ENST00000355502.3	-	14	2061	c.1190C>A	c.(1189-1191)gCc>gAc	p.A397D	PDE4C_ENST00000262805.11_Missense_Mutation_p.A365D|PDE4C_ENST00000447275.2_Missense_Mutation_p.A291D|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.A397D|PDE4C_ENST00000594617.2_Missense_Mutation_p.A397D|PDE4C_ENST00000539010.1_Missense_Mutation_p.A166D			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	397					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.A397E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CGTGGACTGGGCCACGTCGGC	0.652000													75	270					3.20846e-33	6.52857e-33	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219875349	219875349	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:219875349C>T	ENST00000341552.5	-	26	4310	c.4227G>A	c.(4225-4227)atG>atA	p.M1409I	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.M1409I|CCDC108_ENST00000441968.1_Missense_Mutation_p.M1409I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1409						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCCCCATCATATGGGGGT	0.597000													15	46					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39340853	39340853	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:39340853G>A	ENST00000454994.2	-	2	1194	c.918C>T	c.(916-918)ttC>ttT	p.F306F	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000360786.3_Silent_p.F306F|GJA9_ENST00000357771.3_Silent_p.F306F			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	306					cell communication	connexon complex|integral to membrane		p.Q307*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GATTTGGCTGGAATACAGAAG	0.378000													14	209					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85590290	85590290	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:85590290G>T	ENST00000315658.7	+	4	458		c.e4+1		ELMOD3_ENST00000409890.2_Splice_Site|ELMOD3_ENST00000409344.3_Splice_Site|ELMOD3_ENST00000409013.3_Splice_Site|ELMOD3_ENST00000393852.4_Splice_Site|ELMOD3_ENST00000428955.2_Splice_Site|ELMOD3_ENST00000490508.1_Splice_Site	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3						phagocytosis	cytoskeleton		p.?(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAGCCACGTGGTAAGGTTCCC	0.507000													14	36					2.32078e-09	3.19677e-09	1	1	0
RELN	5649	broad.mit.edu	37	7	103252227	103252227	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103252227G>T	ENST00000424685.2	-	21	2885	c.2726C>A	c.(2725-2727)gCc>gAc	p.A909D	RELN_ENST00000343529.5_Missense_Mutation_p.A909D|RELN_ENST00000428762.1_Missense_Mutation_p.A909D			P78509	RELN_HUMAN	reelin	909					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A909D(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATACTTGAGGCAAGTTTAGA	0.378000													8	73					5.18039e-06	6.22154e-06	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87638259	87638259	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:87638259G>T	ENST00000320005.5	-	13	1577	c.1530C>A	c.(1528-1530)ctC>ctA	p.L510L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	510					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATCAATGGCGAGGGCTAACT	0.373000													6	77					0.00307968	0.00327149	1	1	0
NBR1	4077	broad.mit.edu	37	17	41345412	41345412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:41345412G>T	ENST00000422280.1	+	12	1740	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	NBR1_ENST00000590996.1_Missense_Mutation_p.K427N|NBR1_ENST00000589872.1_Missense_Mutation_p.K427N|NBR1_ENST00000389312.4_Missense_Mutation_p.K427N|NBR1_ENST00000542611.1_Missense_Mutation_p.K406N|NBR1_ENST00000341165.6_Missense_Mutation_p.K427N	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	427					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	p.K427N(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CAGAAAAGAAGGATGTTTTGG	0.502000													31	87					6.38683e-12	9.73081e-12	1	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:26032069C>T	ENST00000244661.2	-	1	219	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E74K(5)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGGCGATTTCTCGCACCAGG	0.607000													51	253					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137293720	137293720	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:137293720C>A	ENST00000453654.1	-	10	798	c.259G>T	c.(259-261)Ggc>Tgc	p.G87C	DGKI_ENST00000424189.2_Missense_Mutation_p.G387C|DGKI_ENST00000446122.1_Missense_Mutation_p.G387C|DGKI_ENST00000288490.5_Missense_Mutation_p.G387C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	387					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.G387C(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCTGGTTGCCTCCACTCTTG	0.383000													8	71					0.00621372	0.00650784	1	1	0
SDK1	221935	broad.mit.edu	37	7	4026893	4026893	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4026893G>T	ENST00000404826.2	+	14	2209	c.2070G>T	c.(2068-2070)tgG>tgT	p.W690C	SDK1_ENST00000389531.3_Missense_Mutation_p.W690C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	690	Fibronectin type-III 1.				cell adhesion	integral to membrane		p.W690C(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCTCTCTTGGGTCCGGCCCT	0.468000													121	250					7.08065e-59	1.49656e-58	1	1	0
OR52N5	390075	broad.mit.edu	37	11	5799384	5799384	+	Missense_Mutation	SNP	C	C	T	rs143269628		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5799384C>T	ENST00000317093.2	-	1	513	c.481G>A	c.(481-483)Ggt>Agt	p.G161S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G161S(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGCAATACACCCCTCAGGAAG	0.483000													13	66					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950912	198950912	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:198950912G>T	ENST00000428675.1	+	2	3069	c.2671G>T	c.(2671-2673)Gtt>Ttt	p.V891F	PLCL1_ENST00000437704.2_Missense_Mutation_p.V793F	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	891					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V793F(1)|p.V891F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAAAATAGCGGTTCATCCATT	0.418000													10	93					3.07112e-06	3.71743e-06	1	1	0
FLG	2312	broad.mit.edu	37	1	152283677	152283677	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152283677C>A	ENST00000368799.1	-	3	3720	c.3685G>T	c.(3685-3687)Ggc>Tgc	p.G1229C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1229	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1229C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTGGAGCCGTCTCCTGAT	0.567000									Ichthyosis				90	991					2.47556e-37	5.13079e-37	1	1	0
LRRC6	23639	broad.mit.edu	37	8	133644985	133644985	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:133644985C>A	ENST00000519595.1	-	5	752		c.e5+1		LRRC6_ENST00000250173.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site|LRRC6_ENST00000520446.1_Intron			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6							cytoplasm		p.?(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AATTTACATACAGAGTAGCAT	0.353000													30	190					5.45727e-16	9.21806e-16	1	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29884746	29884746	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29884746T>A	ENST00000308713.5	-	14	2830	c.2303A>T	c.(2302-2304)tAc>tTc	p.Y768F	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.Y698F|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.Y654F|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.Y724F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	768						endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.Y768F(1)|p.Y698F(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCACGGCTCGTACTTCACTGC	0.642000													66	171					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184101	72184101	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:72184101G>T	ENST00000340726.3	-	10	1497	c.858C>A	c.(856-858)ccC>ccA	p.P286P	EYA1_ENST00000388743.2_Silent_p.P285P|EYA1_ENST00000419131.1_Silent_p.P281P|EYA1_ENST00000388740.3_Silent_p.P253P|EYA1_ENST00000388741.2_Silent_p.P252P|EYA1_ENST00000388742.4_Silent_p.P286P|EYA1_ENST00000303824.7_Silent_p.P280P	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	286					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.P286P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATCTTTAATGGGTGTTGATG	0.453000													43	364					3.86361e-14	6.23457e-14	1	1	0
RYR2	6262	broad.mit.edu	37	1	237798224	237798224	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237798224G>T	ENST00000366574.2	+	44	7041	c.6724G>T	c.(6724-6726)Gtg>Ttg	p.V2242L	RYR2_ENST00000542537.1_Missense_Mutation_p.V2226L|RYR2_ENST00000360064.6_Missense_Mutation_p.V2240L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2242	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V2240L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCACTGGATGTGGCTGCAGC	0.433000													11	24					0.00185496	0.00199029	1	1	0
PDE8B	8622	broad.mit.edu	37	5	76633061	76633061	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:76633061G>A	ENST00000264917.5	+	6	763	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PDE8B_ENST00000333194.4_Missense_Mutation_p.E240K|PDE8B_ENST00000342343.4_Missense_Mutation_p.E220K|PDE8B_ENST00000346042.3_Missense_Mutation_p.E240K|PDE8B_ENST00000340978.3_Missense_Mutation_p.E240K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	240					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GAGATTTATGGAGAATAGCAG	0.343000													10	29					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45930211	45930211	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:45930211C>G	ENST00000275525.3	+	2	710	c.414C>G	c.(412-414)ttC>ttG	p.F138L	IGFBP1_ENST00000468955.1_Missense_Mutation_p.F138L|IGFBP1_ENST00000457280.1_Missense_Mutation_p.F138L	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	138						extracellular space	insulin-like growth factor binding	p.F138_H139>LN(1)		large_intestine(2)|lung(4)	6						TGGATAATTTCCATCTGATGG	0.517000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	206					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21391984	21391984	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:21391984C>A	ENST00000256958.2	+	15	2033	c.1937C>A	c.(1936-1938)gCc>gAc	p.A646D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	646					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.A646D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ttaatttatGCCATGAAGAAA	0.274000													17	54					9.16793e-09	1.22639e-08	1	1	0
RXRG	6258	broad.mit.edu	37	1	165380317	165380317	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:165380317C>G	ENST00000359842.5	-	5	954	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	218	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.E218Q(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCAGCTCGCTCTCGGCTCCTC	0.493000													13	100					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561247	147561247	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:147561247C>T	ENST00000281321.3	+	2	765	c.517C>T	c.(517-519)Cac>Tac	p.H173Y		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	173	Poly-His.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CACGcaccaccaccaccacca	0.672000													8	60					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812745	62812745	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:62812745G>T	ENST00000512091.1	+	15	3076	c.2329G>T	c.(2329-2331)Gtc>Ttc	p.V777F	LPHN3_ENST00000506720.1_Missense_Mutation_p.V845F|LPHN3_ENST00000508693.1_Missense_Mutation_p.V845F|LPHN3_ENST00000511324.1_Missense_Mutation_p.V845F|LPHN3_ENST00000514996.1_Missense_Mutation_p.V777F|LPHN3_ENST00000507625.1_Missense_Mutation_p.V845F|LPHN3_ENST00000506700.1_Missense_Mutation_p.V777F|LPHN3_ENST00000545650.1_Missense_Mutation_p.V777F|LPHN3_ENST00000508946.1_Missense_Mutation_p.V777F|LPHN3_ENST00000514591.1_Missense_Mutation_p.V777F|LPHN3_ENST00000509896.1_Missense_Mutation_p.V845F|LPHN3_ENST00000514157.1_Missense_Mutation_p.V777F|LPHN3_ENST00000504896.1_Missense_Mutation_p.V777F|LPHN3_ENST00000506746.1_Missense_Mutation_p.V845F|LPHN3_ENST00000507164.1_Missense_Mutation_p.V845F|LPHN3_ENST00000508078.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	764					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.V777F(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTCTGTTATTGTCAATTCCCC	0.393000													20	212					2.4624e-09	3.38046e-09	1	1	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1													p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													4	103					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347516	71347516	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71347516G>T	ENST00000413702.1	+	4	1343	c.1055G>T	c.(1054-1056)gGc>gTc	p.G352V	MUC7_ENST00000304887.5_Missense_Mutation_p.G352V|MUC7_ENST00000456088.1_Missense_Mutation_p.G352V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	352						extracellular region	protein binding	p.G352V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCTGGCCAAAATAAA	0.378000													17	134					4.7546e-09	6.46226e-09	1	1	0
ATP11B	23200	broad.mit.edu	37	3	182605388	182605388	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:182605388C>T	ENST00000323116.5	+	24	2990	c.2730C>T	c.(2728-2730)agC>agT	p.S910S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	910					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S910S(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTATGACAGCGTGTACCTGA	0.318000													18	149					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98589832	98589832	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:98589832C>A	ENST00000359863.4	+	64	10050	c.9841C>A	c.(9841-9843)Cgg>Agg	p.R3281R	TRRAP_ENST00000446306.3_Silent_p.R3252R|TRRAP_ENST00000355540.3_Silent_p.R3252R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3281					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R3281M(1)|p.R3252M(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AATAGAACAGCGGGAACGCTA	0.592000													53	461					7.47603e-22	1.38679e-21	1	1	0
OR2G2	81470	broad.mit.edu	37	1	247751880	247751880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247751880C>A	ENST00000320065.1	+	1	219	c.219C>A	c.(217-219)taC>taA	p.Y73*	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y73*(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCTTCCTGTACCGCTGCTTCA	0.463000													35	298					1.26612e-14	2.07582e-14	1	1	0
TPTE2P2	644623	broad.mit.edu	37	13	52863978	52863978	+	RNA	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:52863978A>G	ENST00000451298.1	-	0	191				RP11-64P12.8_ENST00000606031.1_RNA																							TACTCGAAGAAGAACATCCAT	0.333000													6	19					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123150081	123150081	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:123150081C>A	ENST00000466202.1	-	3	982	c.406G>T	c.(406-408)Gta>Tta	p.V136L	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Missense_Mutation_p.V136L|IQUB_ENST00000434450.1_Missense_Mutation_p.V136L			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	136	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGAATAAGTACAACTTTTACT	0.308000													24	173					9.57634e-11	1.39747e-10	1	1	0
ADAM18	8749	broad.mit.edu	37	8	39550197	39550197	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:39550197G>A	ENST00000265707.5	+	17	1945	c.1900G>A	c.(1900-1902)Ggg>Agg	p.G634R	ADAM18_ENST00000541111.1_Missense_Mutation_p.G48R|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G610R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	634	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAAAGGGAAAGGGGTAAGTCA	0.338000													6	53					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34690798	34690798	+	Silent	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:34690798T>C	ENST00000374789.3	-	6	1087	c.762A>G	c.(760-762)ggA>ggG	p.G254G	PARD3_ENST00000374794.3_Silent_p.G210G|PARD3_ENST00000544292.1_5'UTR|PARD3_ENST00000374773.1_Silent_p.G254G|PARD3_ENST00000545693.1_Silent_p.G254G|PARD3_ENST00000545260.1_Silent_p.G210G|PARD3_ENST00000340077.5_Silent_p.G254G|PARD3_ENST00000350537.4_Silent_p.G254G|PARD3_ENST00000374790.3_Silent_p.G210G|PARD3_ENST00000374776.1_Silent_p.G254G|PARD3_ENST00000374788.3_Silent_p.G254G|PARD3_ENST00000346874.4_Silent_p.G254G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	254					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G254G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCAGCATGTCCAACAGGTT	0.423000													67	263					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30510525	30510525	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30510525C>A	ENST00000356798.6	+	16	2143	c.1963C>A	c.(1963-1965)Cag>Aag	p.Q655K	RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.Q572K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	655					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.Q655K(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)	AATCTGTTTCCAGATCAAGTC	0.522000													47	147					2.14674e-31	4.31103e-31	1	1	0
NFATC3	4775	broad.mit.edu	37	16	68248276	68248276	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:68248276G>C	ENST00000329524.4	+	10	3175	c.3151G>C	c.(3151-3153)Gag>Cag	p.E1051Q	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000349223.5_Intron|NFATC3_ENST00000346183.3_Intron|RP11-96D1.5_ENST00000569088.1_RNA|NFATC3_ENST00000575270.1_Intron	NM_004555.3	NP_004546.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	0					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.E1051Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGGTTCAGCAGAGAAATGGCC	0.438000													8	69					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115099975	115099975	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:115099975T>G	ENST00000542447.2	-	5	707	c.579A>C	c.(577-579)gaA>gaC	p.E193D	CADM1_ENST00000536727.1_Missense_Mutation_p.E193D|CADM1_ENST00000452722.2_Missense_Mutation_p.E193D|CADM1_ENST00000331581.6_Missense_Mutation_p.E193D|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.E193D	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	193	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTGACCACTCTTCCACCTCCG	0.522000													5	134					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	115					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198701654	198701654	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:198701654G>T	ENST00000367376.2	+	20	2276	c.2105G>T	c.(2104-2106)gGg>gTg	p.G702V	PTPRC_ENST00000352140.3_Missense_Mutation_p.G654V|PTPRC_ENST00000348564.6_Missense_Mutation_p.G543V|PTPRC_ENST00000442510.2_Missense_Mutation_p.G704V|PTPRC_ENST00000594404.1_Missense_Mutation_p.G541V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	702	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGAGATGCAGGGTCAAACTAC	0.318000													6	48					0.0215528	0.0221851	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34263127	34263127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:34263127C>A	ENST00000346562.2	+	9	1156	c.1082C>A	c.(1081-1083)aCa>aAa	p.T361K	NPAS3_ENST00000548645.1_Missense_Mutation_p.T363K|NPAS3_ENST00000551492.1_Missense_Mutation_p.T398K|NPAS3_ENST00000357798.5_Missense_Mutation_p.T380K|NPAS3_ENST00000356141.4_Missense_Mutation_p.T393K	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	393	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAGTGTGTGACAAAGTACTAT	0.368000													18	129					3.99206e-14	6.42075e-14	1	1	0
C9orf9	11092	broad.mit.edu	37	9	135763714	135763714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:135763714G>T	ENST00000372136.3	+	4	832	c.385G>T	c.(385-387)Gag>Tag	p.E129*	C9orf9_ENST00000356311.5_Nonsense_Mutation_p.E129*|C9orf9_ENST00000350499.6_Nonsense_Mutation_p.E129*			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	129								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		CAGCTGTGACGAGGCCCGGAA	0.607000													11	134					0.000978159	0.00105738	1	1	0
SOWAHC	65124	broad.mit.edu	37	2	110373544	110373544	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:110373544A>T	ENST00000356454.3	+	1	1634	c.1478A>T	c.(1477-1479)cAg>cTg	p.Q493L		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	493								p.Q493L(1)									GACCCAGAGCAGCCGCTGGAG	0.557000													25	103					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127660853	127660853	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:127660853T>A	ENST00000373555.4	-	15	1715	c.1382A>T	c.(1381-1383)cAc>cTc	p.H461L		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	461	Gln-rich.					Golgi cisterna membrane		p.H461L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTCAAATTGGTGATTTTGTAA	0.338000													23	138					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926489	1926489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:1926489G>T	ENST00000399161.2	-	10	1799	c.1052C>A	c.(1051-1053)cCg>cAg	p.P351Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.P351Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	351					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P351Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTGCTGCGGATTCCTCTC	0.572000													12	65					3.07112e-06	3.71743e-06	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228973593	228973593	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:228973593G>T	ENST00000392056.3	-	3	247	c.201C>A	c.(199-201)ccC>ccA	p.P67P	SPHKAP_ENST00000344657.5_Silent_p.P67P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	67						cytoplasm	protein binding	p.C68fs*6(2)|p.P67P(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAATTTGGCAGGGCATCCTCT	0.458000													22	175					5.61819e-17	9.70342e-17	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21607028	21607028	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:21607028G>T	ENST00000392288.2	+	4	1676	c.1567G>T	c.(1567-1569)Ggc>Tgc	p.G523C	ZNF493_ENST00000355504.4_Missense_Mutation_p.G395C|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G523C(1)|p.G395C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGAAGAATGTGGCAAAGCTTT	0.338000													6	92					0.0293803	0.0301161	1	1	0
SLC12A8	84561	broad.mit.edu	37	3	124829095	124829095	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:124829095G>A	ENST00000423114.2	-	9	1083	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	SLC12A8_ENST00000393469.4_Missense_Mutation_p.R333C|SLC12A8_ENST00000469902.1_Missense_Mutation_p.R333C|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R134C|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.R86C			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	333					potassium ion transport	integral to membrane	symporter activity	p.R333C(1)|p.R371C(1)		endometrium(2)|kidney(2)|lung(12)	16						TGCAGGATGCGGGGAGCTCCA	0.507000													22	150					0	0	1	0	0
WDYHV1	55093	broad.mit.edu	37	8	124449469	124449469	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:124449469G>T	ENST00000523984.1	+	5	451	c.223G>T	c.(223-225)Gca>Tca	p.A75S	WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000523356.1_Missense_Mutation_p.A135S|WDYHV1_ENST00000287387.2_Missense_Mutation_p.A135S|WDYHV1_ENST00000517609.1_3'UTR			Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	135					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.A135S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AGTGATCCGTGCAGATTCATA	0.408000													15	62					6.72482e-11	9.86629e-11	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51497480	51497480	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:51497480G>A	ENST00000371117.3	-	65	11823	c.11548C>T	c.(11548-11550)Cct>Tct	p.P3850S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3850					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.P3850S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTAGTCACAGGCAAGACAGCA	0.463000													11	123					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526099	176526099	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:176526099G>C	ENST00000367662.3	+	2	1805	c.641G>C	c.(640-642)gGt>gCt	p.G214A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G214A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	214					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G214S(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGACTCCGGTATCTCTTCA	0.567000													62	205					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25347895	25347895	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:25347895C>G	ENST00000354189.5	-	1	137	c.102G>C	c.(100-102)ttG>ttC	p.L34F	CASC1_ENST00000395987.3_Intron|CASC1_ENST00000557684.1_Intron|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000320267.9_Intron|CASC1_ENST00000395990.2_Intron	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	0	Glu-rich.							p.L34F(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AGTTATTTCCCAAACCGACCC	0.517000													30	75					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8425871	8425871	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:8425871C>T	ENST00000337907.3	-	14	2082		c.e14+1		RERE_ENST00000400907.2_Splice_Site|RERE_ENST00000400908.2_Splice_Site|RERE_ENST00000476556.1_Splice_Site|RERE_ENST00000377464.1_Splice_Site	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats						multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCCCTACTCACAGAATTCACT	0.627000													13	133					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115523985	115523985	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:115523985C>A	ENST00000369522.3	+	29	2651	c.2411C>A	c.(2410-2412)cCt>cAt	p.P804H	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.P804H	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	804					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.P804H(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAAACACCTGAAATTTAT	0.289000													35	137					2.95478e-19	5.29703e-19	1	1	0
LOC101929006	101929006	broad.mit.edu	37	6	29230553	29230553	+	RNA	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29230553G>A	ENST00000441381.1	+	0	79																		p.P269I(1)									ATCCTGAGATGGACTGTTTCC	0.433000													17	107					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57317743	57317743	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57317743G>T	ENST00000293502.1	-	4	959	c.816C>A	c.(814-816)agC>agA	p.S272R		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	272						cytoplasm	binding|oxidoreductase activity	p.S272R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGATGCGAGGGCTCCGGGAAA	0.512000													22	98					1.22574e-08	1.63787e-08	1	1	0
OR5H6	79295	broad.mit.edu	37	3	97984066	97984066	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:97984066T>C	ENST00000383696.2	+	1	979	c.938T>C	c.(937-939)gTa>gCa	p.V313A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V313A(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACAAGCAAGTAATAGCTTCA	0.353000													34	106					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31592660	31592660	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:31592660G>T	ENST00000319386.3	+	2	1015	c.22G>T	c.(22-24)Gga>Tga	p.G8*	CCDC129_ENST00000451887.2_Nonsense_Mutation_p.G34*|CCDC129_ENST00000482748.1_Intron|CCDC129_ENST00000407970.3_Nonsense_Mutation_p.G8*			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	8								p.G8*(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAAATCACAAGGATCTGACAA	0.488000													4	29					0.00024832	0.000275587	1	1	0
GCNT2	2651	broad.mit.edu	37	6	10586723	10586723	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:10586723C>T	ENST00000265012.4	+	1	745	c.501C>T	c.(499-501)ctC>ctT	p.L167L	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	167						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.L167L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTCCAGACTCCAGGCTGACC	0.478000													81	262					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100061801	100061801	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:100061801C>A	ENST00000369214.1	+	4	1581	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	PRDM13_ENST00000369215.4_Silent_p.P430P	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGGGGTTGCCCCTCGAGCGCT	0.736000													3	46					1	1	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151163172	151163172	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:151163172T>A	ENST00000282466.3	-	4	4596	c.4597A>T	c.(4597-4599)Aag>Tag	p.K1533*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1533					cell differentiation|multicellular organismal development|ossification	extracellular region		p.K1533*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTGAACTTGGCATTTGGG	0.418000													31	257					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591258	60591258	+	Translation_Start_Site	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:60591258A>T	ENST00000535349.1	+	0	677				PCNXL4_ENST00000317623.4_Missense_Mutation_p.K556I|PCNXL4_ENST00000406949.1_Missense_Mutation_p.K556I|PCNXL4_ENST00000404681.2_Missense_Mutation_p.K790I|PCNXL4_ENST00000406854.1_Missense_Mutation_p.K790I					pecanex-like 4 (Drosophila)									p.K790I(1)|p.K556I(1)									AATAAAGGGAAAGCACCTCTA	0.398000													80	194					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17799600	17799600	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:17799600C>G	ENST00000378814.5	-	22	2686	c.2687G>C	c.(2686-2688)tGg>tCg	p.W896S	KIF13A_ENST00000378816.5_Missense_Mutation_p.W896S|KIF13A_ENST00000378826.2_Missense_Mutation_p.W896S|KIF13A_ENST00000378843.2_Missense_Mutation_p.W896S|KIF13A_ENST00000259711.6_Missense_Mutation_p.W896S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	896					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACACTGGTCCCAGAATGTGTA	0.483000													4	43					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36712915	36712915	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:36712915G>T	ENST00000244751.2	-	18	1965	c.1341C>A	c.(1339-1341)gcC>gcA	p.A447A	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.A155A	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	447	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATCCTGCACGGCCGCTGCAT	0.597000													12	85					0.000151284	0.000170204	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40790178	40790178	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:40790178A>T	ENST00000373198.3	-	18	2797	c.2562T>A	c.(2560-2562)gaT>gaA	p.D854E	PTPRT_ENST00000373187.1_Missense_Mutation_p.D832E|PTPRT_ENST00000356100.2_Missense_Mutation_p.D841E|PTPRT_ENST00000373184.1_Missense_Mutation_p.D822E|PTPRT_ENST00000373201.1_Missense_Mutation_p.D822E|PTPRT_ENST00000373190.1_Splice_Site_p.N831_splice|PTPRT_ENST00000373193.3_Missense_Mutation_p.D835E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	832					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D854_G855>EC(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGCGGCTGCCATCTGCTTCGA	0.602000													30	104					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345076	38345076	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:38345076G>T	ENST00000374618.3	+	5	2202	c.2024G>T	c.(2023-2025)tGt>tTt	p.C675F	ZNF33A_ENST00000458705.2_Missense_Mutation_p.C674F|ZNF33A_ENST00000307441.9_Missense_Mutation_p.C674F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.C681F|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	674						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C674F(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAATCTTTCTGTGTAAAATCA	0.388000													21	164					3.8784e-16	6.57375e-16	1	1	0
VWF	7450	broad.mit.edu	37	12	6125812	6125812	+	Silent	SNP	G	G	A	rs61750602		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6125812G>A	ENST00000261405.5	-	30	5435	c.5181C>T	c.(5179-5181)ctC>ctT	p.L1727L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1727	VWFA 3; main binding site for collagens type I and III.				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	p.L1727L(1)		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)	ACACCTGAGTGAGACGAGGCC	0.522000													18	126					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34951384	34951384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:34951384G>T	ENST00000439527.2	+	14	1621	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	UBA2_ENST00000246548.4_Nonsense_Mutation_p.E471*|UBA2_ENST00000592791.1_5'UTR			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	471					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	p.E471*(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GATAGTGAAAGAAAAATTTGC	0.333000													7	16					0.00829132	0.00865426	1	1	0
MUC6	4588	broad.mit.edu	37	11	1017909	1017909	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:1017909A>T	ENST00000421673.2	-	31	4942	c.4892T>A	c.(4891-4893)gTc>gAc	p.V1631D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1631	Approximate repeats.|Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGGGTGATGACTGTGTGAGT	0.557000													28	924					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16189280	16189280	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:16189280G>A	ENST00000428559.2	+	8	1077	c.865G>A	c.(865-867)Ggt>Agt	p.G289S	DERA_ENST00000526530.1_Missense_Mutation_p.G201S|DERA_ENST00000532964.1_Missense_Mutation_p.G246S	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	289					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding	p.G289S(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				CTTTCGAATAGGTGCCAGTAC	0.453000													9	108					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220046971	220046971	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220046971C>T	ENST00000430297.2	+	9	1388	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	418						endoplasmic reticulum|integral to membrane		p.P418S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGGGTCCCCCCCAGATGG	0.607000													46	455					0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97166207	97166207	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:97166207C>A	ENST00000310865.3	-	0	720									neuralized E3 ubiquitin protein ligase 3																		TGGTCCCATACACGTCCATCA	0.711000													11	47					1.49906e-05	1.75486e-05	1	1	0
MYH13	8735	broad.mit.edu	37	17	10209868	10209868	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10209868G>T	ENST00000418404.3	-	36	5537	c.5374C>A	c.(5374-5376)Cag>Aag	p.Q1792K	MYH13_ENST00000252172.4_Missense_Mutation_p.Q1792K|MYH13_ENST00000570743.1_Missense_Mutation_p.Q1792K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1792					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.Q1792K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCACCGTCTGCTCCAGGTTC	0.557000													60	188					1.44317e-28	2.84693e-28	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	102992199	102992199	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:102992199G>T	ENST00000375735.2	+	10	1603	c.1459G>T	c.(1459-1461)Gtt>Ttt	p.V487F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V487F|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V487F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	487	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.V487F(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAACAGTATAGTTTGGGTTCG	0.358000													13	90					1.49906e-05	1.75486e-05	1	1	0
NPAT	4863	broad.mit.edu	37	11	108044227	108044227	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:108044227G>C	ENST00000278612.8	-	13	1589	c.1484C>G	c.(1483-1485)cCg>cGg	p.P495R		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	495					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.P495R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGATTCACTCGGTACATTTGA	0.373000													15	225					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28216549	28216549	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:28216549G>T	ENST00000284984.2	-	1	1179	c.725C>A	c.(724-726)cCc>cAc	p.P242H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	242					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.P242H(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCTACCTGTGGGCTGTCCTAC	0.592000											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	49					0.184627	0.186449	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179660007	179660007	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179660007G>T	ENST00000444136.1	+	18	3287	c.3037G>T	c.(3037-3039)Gct>Tct	p.A1013S	TDRD5_ENST00000367614.1_Missense_Mutation_p.A959S|TDRD5_ENST00000294848.8_Missense_Mutation_p.A959S	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	959					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.A959S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCTTAGGTGCTGCCGCACG	0.502000													19	111					4.63292e-17	8.013e-17	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155115637	155115637	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:155115637G>A	ENST00000392825.3	+	8	1528	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	GALNT13_ENST00000409237.1_Missense_Mutation_p.E321K|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	321	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGAGAATCTTGAAATGTCTTT	0.378000													11	157					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78511847	78511847	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78511847C>A	ENST00000397909.2	+	14	2983	c.2810C>A	c.(2809-2811)aCc>aAc	p.T937N	NAV3_ENST00000266692.7_Missense_Mutation_p.T937N|NAV3_ENST00000536525.2_Missense_Mutation_p.T937N|NAV3_ENST00000228327.6_Missense_Mutation_p.T937N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	937						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAGACGAGACCTGGGATAGT	0.403000										HNSCC(70;0.22)			21	370					5.45024e-15	9.03225e-15	1	1	0
CLINT1	9685	broad.mit.edu	37	5	157214823	157214823	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:157214823G>A	ENST00000523094.1	-	12	1914	c.1709C>T	c.(1708-1710)cCg>cTg	p.P570L	CLINT1_ENST00000411809.2_Missense_Mutation_p.P570L|CLINT1_ENST00000296951.5_Missense_Mutation_p.P570L|CLINT1_ENST00000530742.1_Missense_Mutation_p.P570L|CLINT1_ENST00000523908.1_Missense_Mutation_p.P588L	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	570	Met-rich.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	p.P570L(2)		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)			GTTCATCATCGGAGTATTTCC	0.532000													38	100					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321725	233321725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:233321725G>T	ENST00000295463.3	+	4	494	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	139					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCTTTAACCAGTGCAACACGA	0.637000													18	59					1.33834e-09	1.85285e-09	1	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238688153	238688153	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:238688153G>A	ENST00000308482.9	+	24	1970	c.1901G>A	c.(1900-1902)aGt>aAt	p.S634N		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	p.S634N(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GCAAATCGGAGTGCACTCTTG	0.498000													4	99					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861912	57861912	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57861912C>G	ENST00000228682.2	+	10	1304	c.1213C>G	c.(1213-1215)Cgg>Ggg	p.R405G	GLI1_ENST00000543426.1_Missense_Mutation_p.R277G|GLI1_ENST00000546141.1_Missense_Mutation_p.R364G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	405					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R405G(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCCCCTGCCTCGGGCACCATC	0.592000													14	71					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89920946	89920946	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:89920946A>T	ENST00000378247.3	+	5	821	c.778A>T	c.(778-780)Aag>Tag	p.K260*	SPIRE2_ENST00000393062.2_Nonsense_Mutation_p.K260*	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	260	WH2 1.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGTGAAGCTGAAGAAGGTGCA	0.632000													7	148					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36339228	36339228	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:36339228C>A	ENST00000373738.1	-	4	1223	c.378G>T	c.(376-378)agG>agT	p.R126S	ETV7_ENST00000373737.4_Intron|ETV7_ENST00000538992.1_Missense_Mutation_p.R30S|ETV7_ENST00000340181.4_Missense_Mutation_p.R181S|ETV7_ENST00000339796.5_Missense_Mutation_p.R181S	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	181					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAGGGGTCCACCTTGCCAGGC	0.657000													3	28					1	1	1	1	0
ALCAM	214	broad.mit.edu	37	3	105264032	105264032	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:105264032G>T	ENST00000481337.1	+	10	1120		c.e10-1		ALCAM_ENST00000306107.5_Intron|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000486979.2_Intron			Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTACATTTCAGAGTTAGCACT	0.343000													9	57					0.000274275	0.000302072	1	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20489434	20489434	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:20489434C>T	ENST00000555186.1	+	0	422					NR_038836.1																						CACTGAAGGACCAGATCACCA	0.413000													4	142					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039763	31039763	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:31039763G>T	ENST00000355537.3	+	4	3384	c.3237G>T	c.(3235-3237)atG>atT	p.M1079I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1079					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.M1079I(1)		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)					CTGAGAAGATGGCCCAAGGTC	0.537000													18	134					3.99206e-14	6.42075e-14	1	1	0
MARCO	8685	broad.mit.edu	37	2	119750717	119750717	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:119750717G>A	ENST00000541757.1	+	17	1416	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	MARCO_ENST00000327097.4_Missense_Mutation_p.V424I			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	424	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.V424I(1)|p.V424F(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTCAGTGTCCGTCAGGATTGT	0.517000													34	197					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72049909	72049909	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:72049909G>A	ENST00000305425.4	-	9	2371	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	DACH1_ENST00000313174.7_Missense_Mutation_p.T502M|DACH1_ENST00000359684.2_Missense_Mutation_p.T702M|DACH1_ENST00000354591.4_Missense_Mutation_p.T448M	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	700	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.T650M(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ACGCCGTTTCGTCTCAAACTC	0.388000													108	268					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902365	247902365	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247902365G>T	ENST00000283225.2	+	1	449	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.R150I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TGGCTCAACAGAGGGGCCTTG	0.527000													21	203					1.01871e-10	1.48045e-10	1	1	0
DMRTB1	63948	broad.mit.edu	37	1	53925146	53925146	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:53925146G>T	ENST00000371445.3	+	1	75	c.20G>T	c.(19-21)cGc>cTc	p.R7L		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	7					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R7L(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AAAATGGTGCGCACCCCCAAG	0.627000													24	83					1.42536e-11	2.13196e-11	1	1	0
GPR137B	7107	broad.mit.edu	37	1	236341796	236341796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:236341796G>T	ENST00000366592.3	+	3	638	c.547G>T	c.(547-549)Gga>Tga	p.G183*	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	183						integral to plasma membrane|membrane fraction		p.G183*(1)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGTAAAGACGGGAAATTGGGA	0.507000													16	132					6.72482e-11	9.86629e-11	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228883020	228883020	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:228883020C>A	ENST00000392056.3	-	7	2596	c.2550G>T	c.(2548-2550)gaG>gaT	p.E850D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E850D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	850						cytoplasm	protein binding	p.E850D(4)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCATTCATTCTCACTGTGAT	0.502000													10	222					0.000673444	0.000730879	1	1	0
CNOT2	4848	broad.mit.edu	37	12	70713103	70713103	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:70713103G>T	ENST00000229195.3	+	4	776	c.197G>T	c.(196-198)gGt>gTt	p.G66V	CNOT2_ENST00000418359.3_Missense_Mutation_p.G66V	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	66					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.G66V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCTACATCAGGTCAGCTGTCT	0.343000													10	120					5.50884e-06	6.56782e-06	1	1	0
FCN1	2219	broad.mit.edu	37	9	137809691	137809691	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137809691G>T	ENST00000371806.3	-	1	118	c.27C>A	c.(25-27)gcC>gcA	p.A9A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	9					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.A9A(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGAGCCCCCGGGCCATGGTGG	0.592000													11	123					1.61879e-10	2.34143e-10	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87679886	87679886	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:87679886C>T	ENST00000436978.1	+	22	3849	c.3369C>T	c.(3367-3369)atC>atT	p.I1123I	PTPN13_ENST00000316707.6_Silent_p.I932I|PTPN13_ENST00000511467.1_Silent_p.I1123I|PTPN13_ENST00000411767.2_Silent_p.I1123I|PTPN13_ENST00000427191.2_Silent_p.I1104I	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1123	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.I1123I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCATATTTATCAGTTCAGTTG	0.388000													23	157					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36122805	36122805	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:36122805A>T	ENST00000378660.1	+	8	1230	c.1042A>T	c.(1042-1044)Aaa>Taa	p.K348*	CHDC2_ENST00000313548.4_Nonsense_Mutation_p.K348*					calponin homology domain containing 2									p.K348*(1)									AAACTGTCACAAAGGTGAGAA	0.338000													14	27					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100460	168100460	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:168100460T>A	ENST00000409195.1	+	9	2647	c.2558T>A	c.(2557-2559)cTa>cAa	p.L853Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L853Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L631Q|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	678					actin cytoskeleton organization	cell junction	actin binding	p.L853Q(1)		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						TTAGACATTCTAAAAGAAGTT	0.368000													31	238					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158482646	158482646	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:158482646C>T	ENST00000409339.3	-	6	651		c.e6-1		NCAPG2_ENST00000449727.2_Splice_Site|NCAPG2_ENST00000356309.3_Splice_Site|NCAPG2_ENST00000409423.1_Splice_Site			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2						cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.?(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CGTCTGCACCCTAGGAATGAC	0.313000													11	40					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152311424	152311424	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:152311424C>T	ENST00000243326.4	+	21	2843	c.2360C>T	c.(2359-2361)tCa>tTa	p.S787L	RIF1_ENST00000444746.2_Missense_Mutation_p.S787L|RIF1_ENST00000430328.2_Missense_Mutation_p.S787L|RIF1_ENST00000428287.2_Missense_Mutation_p.S787L|RIF1_ENST00000453091.2_Missense_Mutation_p.S787L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	787					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.S787L(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGAGACCTTCAGATTGGTCC	0.328000													9	58					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617853	31617853	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:31617853A>G	ENST00000409210.1	+	6	883	c.699A>G	c.(697-699)ctA>ctG	p.L233L	CCDC129_ENST00000451887.2_Silent_p.L351L|CCDC129_ENST00000407970.3_Silent_p.L325L|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	325								p.L325L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATGATTTGCTACCTTATCCTC	0.502000													15	82					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156518501	156518501	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:156518501T>C	ENST00000353442.4	-	13	1260	c.1024A>G	c.(1024-1026)Acg>Gcg	p.T342A	LMBR1_ENST00000354505.4_Missense_Mutation_p.T383A|LMBR1_ENST00000359422.4_Missense_Mutation_p.T190A|LMBR1_ENST00000461603.1_5'UTR|LMBR1_ENST00000540390.1_Missense_Mutation_p.T321A	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	342						integral to membrane	receptor activity	p.T342A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AAACCAAACGTAGAAAGAGAG	0.393000													8	131					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28662236	28662236	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:28662236T>A	ENST00000280904.6	-	9	1674	c.1231A>T	c.(1231-1233)Aaa>Taa	p.K411*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.K411*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	411	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.K411*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATTGGTTTTGGCATCTGTT	0.299000													34	138					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336223	127336223	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:127336223G>C	ENST00000265056.7	+	11	2119	c.1875G>C	c.(1873-1875)acG>acC	p.T625T		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	625	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.T625T(1)		ovary(3)|skin(2)|stomach(1)	6						CTCGCTGCACGGTCATTGCTG	0.622000													8	62					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118151596	118151596	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:118151596G>T	ENST00000365713.2	+	10	2263	c.2100G>T	c.(2098-2100)aaG>aaT	p.K700N	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.K485N|LONRF3_ENST00000304778.7_Missense_Mutation_p.K700N|LONRF3_ENST00000371628.3_Missense_Mutation_p.K741N			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	741	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.K741N(1)|p.K700N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GGTCCTTAAAGGACAGACTGA	0.542000													17	82					3.70931e-20	6.75321e-20	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99772061	99772061	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:99772061C>A	ENST00000370185.3	+	7	2284	c.1787C>A	c.(1786-1788)aCt>aAt	p.T596N	LPPR4_ENST00000457765.1_Missense_Mutation_p.T538N|LPPR4_ENST00000370184.1_Missense_Mutation_p.T438N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		596							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCCAAGAACACTGAAGGCAGC	0.552000													8	143					0.0581538	0.0592884	1	1	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290871	31290871	+	RNA	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:31290871A>G	ENST00000554665.1	-	0	208																											TTTATAACTAATCACCTAATG	0.433000													4	46					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169526046	169526046	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:169526046G>T	ENST00000367796.3	-	6	991	c.790C>A	c.(790-792)Cca>Aca	p.P264T	F5_ENST00000546081.1_Missense_Mutation_p.P127T|F5_ENST00000367797.3_Missense_Mutation_p.P264T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	264	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P264T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AATAATTCTGGCCCCGAGCTC	0.493000													15	78					2.31682e-05	2.68149e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179438584	179438584	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179438584G>A	ENST00000589042.1	-	326	72499	c.72275C>T	c.(72274-72276)tCa>tTa	p.S24092L	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15152L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15027L|TTN_ENST00000342175.6_Missense_Mutation_p.S15219L|TTN_ENST00000591111.1_Missense_Mutation_p.S22451L|TTN_ENST00000342992.6_Missense_Mutation_p.S21524L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22451	Fibronectin type-III 75.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTTGTTGAATCTTTGTT	0.408000													10	131					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677941	48677941	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:48677941G>A	ENST00000544264.1	-	35	9372	c.9092C>T	c.(9091-9093)gCc>gTc	p.A3031V	CELSR3_ENST00000164024.4_Missense_Mutation_p.A3026V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3026					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.A3026V(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCTCAGGGGCACCTCGGGT	0.642000													19	54					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134664758	134664758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:134664758C>A	ENST00000368586.5	-	40	5726	c.5626G>T	c.(5626-5628)Ggc>Tgc	p.G1876C	TTC40_ENST00000263170.5_Missense_Mutation_p.G37C	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	37										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCACGAGGCCGAGCTTGAGG	0.612000													11	81					8.10497e-08	1.05322e-07	1	1	0
PHRF1	57661	broad.mit.edu	37	11	607913	607913	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:607913C>G	ENST00000264555.5	+	14	2585	c.2457C>G	c.(2455-2457)atC>atG	p.I819M	PHRF1_ENST00000533464.1_Missense_Mutation_p.I815M|PHRF1_ENST00000413872.2_Missense_Mutation_p.I817M|PHRF1_ENST00000416188.2_Missense_Mutation_p.I818M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	819							RNA polymerase binding|zinc ion binding	p.I819M(1)|p.I824M(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTCTCCATCAAGAAGACGA	0.642000													29	213					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10912016	10912016	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:10912016C>A	ENST00000381661.3	+	7	631	c.522C>A	c.(520-522)ttC>ttA	p.F174L	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F174L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.F174L(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532000													44	250					1.02067e-35	2.09595e-35	1	1	0
WDR37	22884	broad.mit.edu	37	10	1170222	1170222	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:1170222G>T	ENST00000358220.1	+	12	1312	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L	WDR37_ENST00000482165.1_3'UTR|WDR37_ENST00000263150.4_Missense_Mutation_p.V390L			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	390								p.V390L(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGACCGCACGGTGAAAGTCTG	0.488000													29	136					9.65021e-13	1.50386e-12	1	1	0
CDH10	1008	broad.mit.edu	37	5	24491830	24491830	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:24491830G>C	ENST00000264463.4	-	11	2238	c.1731C>G	c.(1729-1731)agC>agG	p.S577R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	577	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S577R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCCTGTGCTGCTCTGAATTG	0.488000										HNSCC(23;0.051)			13	82					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124497156	124497156	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:124497156C>T	ENST00000539644.1	+	6	2295	c.465C>T	c.(463-465)acC>acT	p.T155T	ZNF664_ENST00000538932.2_Silent_p.T155T|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000392404.3_Silent_p.T155T|ZNF664_ENST00000337815.4_Silent_p.T155T			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T155T(1)		breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCAGGCACACCTCCAGCCTCT	0.498000													19	264					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31014634	31014634	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:31014634G>T	ENST00000409316.1	+	6	597	c.160G>T	c.(160-162)Gcc>Tcc	p.A54S	GHRHR_ENST00000326139.2_Silent_p.G287G|GHRHR_ENST00000409904.3_Silent_p.G223G|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	157					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	p.G287G(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCATCAAAGGGCCCATTGTCC	0.577000											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	183					3.93418e-24	7.48439e-24	1	1	0
DSG3	1830	broad.mit.edu	37	18	29055792	29055792	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:29055792G>T	ENST00000257189.4	+	16	2652	c.2569G>T	c.(2569-2571)Gca>Tca	p.A857S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	857					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.A857S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAAAAAACTTGCAGAGATAAG	0.473000													15	104					1.05317e-09	1.46882e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179605626	179605626	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179605626G>C	ENST00000589042.1	-	48	12558	c.12334C>G	c.(12334-12336)Cag>Gag	p.Q4112E	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3874E|TTN_ENST00000460472.2_Missense_Mutation_p.Q3749E|TTN_ENST00000342175.6_Missense_Mutation_p.Q3941E|TTN_ENST00000591111.1_Missense_Mutation_p.Q3795E|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3795							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q3874E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAATTCCTGAGCTCCCAAA	0.413000													36	189					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76254898	76254898	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:76254898G>A	ENST00000319942.3	+	3	237	c.166G>A	c.(166-168)Gta>Ata	p.V56I	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.V56I	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	56					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	p.V56I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GGGTCTGACAGTAATGGATCT	0.363000													30	133					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34957912	34957912	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:34957912C>G	ENST00000439527.2	+	16	1944	c.1446C>G	c.(1444-1446)acC>acG	p.T482T	UBA2_ENST00000246548.4_Silent_p.T578T|UBA2_ENST00000592791.1_Silent_p.T104T			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	578					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	p.T578T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGCCCTCCACCTCCACAGGTG	0.463000													7	73					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100444090	100444090	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:100444090C>T	ENST00000279907.7	-	17	3786	c.3574G>A	c.(3574-3576)Gtt>Att	p.V1192I	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.V842I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1192								p.V1192I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AATACCACAACGGACATCTAT	0.333000													14	70					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134466	48134466	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:48134466G>C	ENST00000405493.2	-	21	2273	c.2064C>G	c.(2062-2064)ccC>ccG	p.P688P	RAPGEF3_ENST00000449771.2_Silent_p.P730P|RAPGEF3_ENST00000171000.4_Silent_p.P688P|RAPGEF3_ENST00000549151.1_Silent_p.P688P|RAPGEF3_ENST00000548919.1_Silent_p.P639P|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Silent_p.P730P	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	688					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	p.P688P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCTGGGCCCGGGGGCCGGGCA	0.652000													23	96					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158669353	158669353	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:158669353G>A	ENST00000407559.3	+	4	702	c.544G>A	c.(544-546)Gat>Aat	p.D182N		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	182								p.D182N(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGGAGATGAAGATAGAGAAAG	0.343000													3	24					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107113822	107113822	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:107113822G>T	ENST00000392842.1	+	12	1637	c.1223G>T	c.(1222-1224)tGt>tTt	p.C408F	RFX4_ENST00000229387.5_Missense_Mutation_p.C314F|RFX4_ENST00000357881.4_Missense_Mutation_p.C417F|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	408	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding	p.C417F(1)|p.C314F(1)|p.C408F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTTGACCGCTGTGTTGTGAAG	0.537000													10	95					9.70103e-10	1.35682e-09	1	1	0
PHRF1	57661	broad.mit.edu	37	11	608852	608852	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:608852C>G	ENST00000264555.5	+	14	3524	c.3396C>G	c.(3394-3396)ctC>ctG	p.L1132L	PHRF1_ENST00000533464.1_Silent_p.L1128L|PHRF1_ENST00000413872.2_Silent_p.L1130L|PHRF1_ENST00000416188.2_Silent_p.L1131L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1132	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGGAGAGGCTCTGCAGGCACA	0.627000													14	60					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791322	110791322	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:110791322G>A	ENST00000327908.3	+	4	1632	c.868G>A	c.(868-870)Gca>Aca	p.A290T	LRIT3_ENST00000379920.3_Missense_Mutation_p.A428T|LRIT3_ENST00000594814.1_Missense_Mutation_p.A473T|LRIT3_ENST00000409621.2_Missense_Mutation_p.A290T			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	428	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGAAGAGCTGGCATTGTTGGA	0.448000													8	79					0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101256815	101256815	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:101256815G>A	ENST00000223167.4	-	8	798	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	207	EF-hand 3.					mitochondrion	calcium ion binding	p.C207C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCAGGTTGCCGCACACATCTG	0.557000													19	167					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406410	148406410	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:148406410G>T	ENST00000394358.2	-	12	2992	c.2540C>A	c.(2539-2541)cCa>cAa	p.P847Q	SH3TC2_ENST00000515425.1_Intron|SH3TC2_ENST00000538184.1_Intron|SH3TC2_ENST00000512049.1_Intron			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	0							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAGCATGGGACATACTT	0.443000													32	247					5.60225e-13	8.80866e-13	1	1	0
PIGR	5284	broad.mit.edu	37	1	207111097	207111097	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:207111097C>A	ENST00000356495.4	-	4	572		c.e4-1			NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor							extracellular region|integral to plasma membrane	protein binding	p.?(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCCAGGACCTGCAGGATGA	0.493000													13	31					7.03913e-09	9.48332e-09	1	1	0
TARS	6897	broad.mit.edu	37	5	33453500	33453500	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:33453500G>T	ENST00000265112.3	+	4	747	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	TARS_ENST00000455217.2_Missense_Mutation_p.D179Y|TARS_ENST00000502553.1_Missense_Mutation_p.D146Y|TARS_ENST00000414361.2_Intron|TARS_ENST00000541634.1_Missense_Mutation_p.D42Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	146					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.D146Y(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CAAGTTTGAGGATGAGGAAGC	0.448000													41	197					2.65591e-33	5.41321e-33	1	1	0
SEMA4D	10507	broad.mit.edu	37	9	92006264	92006264	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:92006264C>A	ENST00000450295.1	-	9	1465	c.689G>T	c.(688-690)aGg>aTg	p.R230M	SEMA4D_ENST00000438547.2_Missense_Mutation_p.R230M|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R230M|SEMA4D_ENST00000422704.2_Missense_Mutation_p.R230M|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R230M|SEMA4D_ENST00000420987.1_Missense_Mutation_p.R230M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R230M|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R230M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	230	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.R230I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGTAGACCCTGTCATCCTC	0.537000													25	154					7.92952e-12	1.19625e-11	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42643085	42643085	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:42643085G>C	ENST00000282030.5	+	6	4509	c.4213G>C	c.(4213-4215)Gaa>Caa	p.E1405Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1405						nucleus	DNA binding	p.E1351Q(1)|p.E1405Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGGGAGATCGAAGCCATCCA	0.547000									Schinzel-Giedion syndrome				26	119					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113148238	113148238	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:113148238G>T	ENST00000401783.2	-	43	10513	c.10177C>A	c.(10177-10179)Cac>Aac	p.H3393N	SVEP1_ENST00000297826.5_Missense_Mutation_p.H1319N|SVEP1_ENST00000374469.1_Missense_Mutation_p.H3370N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3393	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.H3396N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATGATGCCGTGGCCCTGCAGC	0.502000													12	96					6.40141e-05	7.27191e-05	1	1	0
TMEM80	283232	broad.mit.edu	37	11	702964	702964	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:702964A>G	ENST00000397512.3	+	5	407	c.297A>G	c.(295-297)acA>acG	p.T99T	TMEM80_ENST00000397510.2_Silent_p.T107T	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN	transmembrane protein 80	107						integral to membrane		p.T62T(1)|p.T107T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAACCTGACAGAGGCTGAGA	0.697000													25	110					0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151265679	151265679	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:151265679G>T	ENST00000367321.3	+	14	1772	c.1498G>T	c.(1498-1500)Gct>Tct	p.A500S		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	500	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.A500S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TAACTTGCTGGCTGCCGCCAT	0.423000													13	35					7.93312e-07	9.82539e-07	1	1	0
TRIP11	9321	broad.mit.edu	37	14	92480596	92480596	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:92480596T>A	ENST00000267622.4	-	7	1522	c.1149A>T	c.(1147-1149)tcA>tcT	p.S383S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	383					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.S383S(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTCTTCCACTGATGCACTCT	0.378000			T	PDGFRB	AML								23	89					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74778254	74778254	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:74778254C>A	ENST00000397860.3	-	3	353	c.139_splice	c.e3+1	p.G47_splice	MBP_ENST00000397863.1_Splice_Site_p.G47_splice|MBP_ENST00000580402.1_Splice_Site_p.G47_splice|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000579129.1_Splice_Site_p.G47_splice|MBP_ENST00000355994.2_Splice_Site_p.G47_splice	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	47					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	p.G47R(1)|p.G47*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CGTCACCTACCGAACACTTCG	0.463000													21	106					7.41877e-09	9.95747e-09	1	1	0
DPP6	1804	broad.mit.edu	37	7	154679411	154679411	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:154679411G>C	ENST00000404039.1	+	23	2666	c.2079G>C	c.(2077-2079)ttG>ttC	p.L693F	DPP6_ENST00000427557.1_Missense_Mutation_p.L650F|DPP6_ENST00000377770.3_Missense_Mutation_p.L757F|DPP6_ENST00000332007.3_Missense_Mutation_p.L695F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	757					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.L757F(2)|p.L693F(2)|p.L695F(2)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGAGGTACTTGGGCCTCCATG	0.577000													84	395					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9676905	9676905	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:9676905T>G	ENST00000310823.3	-	3	465	c.283A>C	c.(283-285)Aag>Cag	p.K95Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.K95Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	95					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	p.K95Q(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACCACGACCTTGAAATTTTGT	0.373000													9	70					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386463	45386463	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:45386463T>A	ENST00000389039.6	-	34	4917	c.4532A>T	c.(4531-4533)aAg>aTg	p.K1511M	DUOX2_ENST00000603300.1_Missense_Mutation_p.K1511M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1511					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.K1511M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACCCCGATCTTGCGCACCTG	0.577000													12	75					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100417903	100417903	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:100417903C>T	ENST00000372927.1	+	21	2495	c.2218C>T	c.(2218-2220)Cat>Tat	p.H740Y	CENPI_ENST00000218507.5_Missense_Mutation_p.H726Y|CENPI_ENST00000423383.1_Missense_Mutation_p.H740Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	740					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.H740Y(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AAGTAGTGTTCATCATTCTTC	0.383000													17	89					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628918	87628918	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:87628918A>G	ENST00000327946.7	-	6	885	c.800T>C	c.(799-801)aTc>aCc	p.I267T		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	267						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I267T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CAGATCCAGGATCTCCGGGTC	0.507000										Multiple Myeloma(13;0.14)			39	162					0	0	1	0	0
YAE1D1	57002	broad.mit.edu	37	7	39610208	39610208	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:39610208G>T	ENST00000432096.2	+	2	246	c.233G>T	c.(232-234)cGa>cTa	p.R78L	YAE1D1_ENST00000223273.2_Missense_Mutation_p.R78L|YAE1D1_ENST00000448268.1_Missense_Mutation_p.R78L			Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	78								p.R78L(1)									AACTATGGACGACTCCGAGGA	0.353000													23	143					1.10923e-09	1.54262e-09	1	1	0
POTEH	23784	broad.mit.edu	37	22	16279301	16279301	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:16279301G>T	ENST00000343518.6	-	4	973	c.921_splice	c.e4-1	p.H308_splice		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	308										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTGAGGCCATGCTGTAAAACA	0.323000													10	557					5.50884e-06	6.56782e-06	1	1	0
TGS1	96764	broad.mit.edu	37	8	56723472	56723472	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:56723472G>T	ENST00000260129.5	+	11	2653	c.2176G>T	c.(2176-2178)Gcc>Tcc	p.A726S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	726	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	p.A726S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTTAAGATTGCCCTTGCTCG	0.353000													36	268					2.3623e-07	3.01236e-07	1	1	0
TMEM132E	124842	broad.mit.edu	37	17	32964379	32964379	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:32964379G>C	ENST00000321639.5	+	10	2411	c.2083G>C	c.(2083-2085)Gca>Cca	p.A695P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	695						integral to membrane		p.A695P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCTGCTTCGCGCAGAGCTAAC	0.637000													44	168					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44950057	44950057	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:44950057C>G	ENST00000393461.2	+	2	305	c.252C>G	c.(250-252)ctC>ctG	p.L84L	WNT9B_ENST00000290015.2_Silent_p.L84L			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	84					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	p.L90L(1)|p.L84L(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGCGCACCTCGGCCTGCTTG	0.652000													23	60					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240497463	240497463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:240497463C>T	ENST00000319653.9	+	13	4929	c.4699C>T	c.(4699-4701)Cag>Tag	p.Q1567*	FMN2_ENST00000545751.1_Nonsense_Mutation_p.Q163*	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1567	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGACCTTTTTCAGGCCTCACA	0.363000													21	518					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35451812	35451812	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:35451812G>A	ENST00000404801.1	-	2	506	c.120C>T	c.(118-120)tgC>tgT	p.C40C		NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D41Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCATCACATCGCAGTACAGGA	0.582000													48	192					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860404	113860404	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:113860404G>T	ENST00000504030.2	+	9	1801	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	HTR3A_ENST00000355556.2_Silent_p.L490L|HTR3A_ENST00000535865.1_Silent_p.L196L|HTR3A_ENST00000506841.2_Silent_p.L484L|HTR3A_ENST00000375498.2_Silent_p.L458L|HTR3A_ENST00000299961.5_Silent_p.L437L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	452					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.L484L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGACAAGCTGCTATTCCACA	0.592000													25	172					1.64293e-13	2.61506e-13	1	1	0
ZNF649	65251	broad.mit.edu	37	19	52394293	52394293	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:52394293T>A	ENST00000354957.3	-	5	1380	c.1096A>T	c.(1096-1098)Aga>Tga	p.R366*	ZNF649_ENST00000600738.1_Nonsense_Mutation_p.R338*|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R366*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTATGATATCTCTGATGTGCT	0.448000													43	78					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64746747	64746747	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:64746747C>T	ENST00000557772.1	-	2	486	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	ESR2_ENST00000554572.1_Missense_Mutation_p.V163I|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000341099.4_Missense_Mutation_p.V163I|ESR2_ENST00000357782.2_Missense_Mutation_p.V163I|ESR2_ENST00000555278.1_Missense_Mutation_p.V163I|ESR2_ENST00000267525.6_Missense_Mutation_p.V163I|ESR2_ENST00000553796.1_Missense_Mutation_p.V163I|ESR2_ENST00000542956.1_Missense_Mutation_p.V163I|ESR2_ENST00000358599.5_Missense_Mutation_p.V163I|ESR2_ENST00000353772.3_Missense_Mutation_p.V163I	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	163					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.V163I(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CACGACCAGACTCCATAGTGA	0.453000													207	417					0	0	1	0	0
HSPB11	51668	broad.mit.edu	37	1	54405720	54405720	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:54405720C>A	ENST00000194214.5	-	2	425	c.36G>T	c.(34-36)ggG>ggT	p.G12G	HSPB11_ENST00000371378.2_Silent_p.G12G|HSPB11_ENST00000371376.1_Silent_p.G12G|HSPB11_ENST00000371377.3_Silent_p.G12G	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	12					cell adhesion|response to stress			p.G12G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCACTTCGGACCCTTCAGAGC	0.318000													5	93					1.23904e-05	1.45532e-05	1	1	0
MYLK	4638	broad.mit.edu	37	3	123456333	123456333	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:123456333G>T	ENST00000360772.3	-	9	1024	c.646C>A	c.(646-648)Cag>Aag	p.Q216K	MYLK_ENST00000360304.3_Missense_Mutation_p.Q216K|MYLK_ENST00000359169.1_Missense_Mutation_p.Q216K|MYLK_ENST00000346322.5_Missense_Mutation_p.Q216K|MYLK_ENST00000475616.1_Missense_Mutation_p.Q216K			Q15746	MYLK_HUMAN	myosin light chain kinase	216	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.Q216K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCAGAACCTGCATGCCGTTC	0.537000													43	291					9.84934e-19	1.75036e-18	1	1	0
PMM1	5372	broad.mit.edu	37	22	41982110	41982110	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:41982110T>A	ENST00000216259.7	-	2	259	c.175A>T	c.(175-177)Atc>Ttc	p.I59F	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	59					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	p.I59F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TGCTCAGCGATCTTACAGTAG	0.567000													37	204					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209851	65209851	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:65209851G>T	ENST00000247226.7	+	15	3230	c.2922G>T	c.(2920-2922)ggG>ggT	p.G974G	PLEKHG3_ENST00000484731.2_Silent_p.G535G|PLEKHG3_ENST00000394691.1_Silent_p.G1030G|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000471182.2_Silent_p.G563G	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1030					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.G974G(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCTCGCCTGGGGGCCGGCCCT	0.672000													140	275					1.25597e-82	2.6823e-82	1	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99764641	99764641	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:99764641C>T	ENST00000360039.4	-	2	470	c.78G>A	c.(76-78)atG>atA	p.M26I	GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M26I|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M26I|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.M26I|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.D66N	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	26					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.M26I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCAATGGTCATGAAGACTC	0.627000													4	18					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41184896	41184896	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:41184896C>A	ENST00000564680.1	-	0	314																											TGAGGGTCCACGTAGGAGACG	0.562000													22	156					1.17739e-12	1.82555e-12	1	1	0
DDR2	4921	broad.mit.edu	37	1	162724443	162724443	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:162724443G>T	ENST00000367922.2	+	6	653	c.215G>T	c.(214-216)tGg>tTg	p.W72L	DDR2_ENST00000367921.3_Missense_Mutation_p.W72L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	72	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.W72L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATGGAGCCTGGTGCCCTGAG	0.552000													54	148					3.53049e-34	7.21971e-34	1	1	0
CEP135	9662	broad.mit.edu	37	4	56865740	56865740	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:56865740G>A	ENST00000257287.4	+	17	2333	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	737					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.D737N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAAGAAAAAGACTTTCTCCA	0.333000													12	97					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98775122	98775122	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:98775122G>T	ENST00000407474.3	+	4	1746	c.1233G>T	c.(1231-1233)ctG>ctT	p.L411L				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ATCCAGTGCTGGAAAATACTT	0.383000													8	53					1.12685e-05	1.33376e-05	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30724540	30724540	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30724540G>A	ENST00000262518.4	+	15	2527	c.2142G>A	c.(2140-2142)aaG>aaA	p.K714K	SRCAP_ENST00000344771.4_Silent_p.K714K|SRCAP_ENST00000395059.2_Silent_p.K714K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	714	Helicase ATP-binding.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.K714K(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTGGACCAAGCCCAATGCCT	0.493000													53	182					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453096	140453096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:140453096C>A	ENST00000288602.6	-	15	1899	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	613	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L613F(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGGATCCAGACAACTGTTCAA	0.393000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				12	136					7.03913e-09	9.48332e-09	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21603922	21603922	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:21603922C>G	ENST00000328843.6	+	6	1132	c.1101C>G	c.(1099-1101)acC>acG	p.T367T	DNAH11_ENST00000409508.3_Silent_p.T367T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	367	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						TATTTCATACCATCTGTCTGA	0.418000									Kartagener syndrome				7	112					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212288980	212288980	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:212288980A>T	ENST00000342788.4	-	23	3076	c.2766T>A	c.(2764-2766)gaT>gaA	p.D922E	ERBB4_ENST00000436443.1_Missense_Mutation_p.D922E|ERBB4_ENST00000402597.1_Missense_Mutation_p.D912E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	922	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D922E(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGGAATTCCATCATAGGGTT	0.378000										TSP Lung(8;0.080)			12	87					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109672096	109672096	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:109672096C>A	ENST00000296486.3	-	7	851	c.697G>T	c.(697-699)Gca>Tca	p.A233S	ETNPPL_ENST00000411864.2_Missense_Mutation_p.A227S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.A193S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.A175S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.A233S(1)									ACATACTCTGCCACTTTCTGG	0.433000													26	243					7.72975e-29	1.53088e-28	1	1	0
CPZ	8532	broad.mit.edu	37	4	8609143	8609143	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:8609143C>A	ENST00000382480.2	+	7	1607	c.807C>A	c.(805-807)ccC>ccA	p.P269P	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Silent_p.P406P|CPZ_ENST00000315782.6_Silent_p.P395P	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	406					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCCCACGCCCGACGAGAAGG	0.627000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	70					2.56e-06	3.11255e-06	1	1	0
NOBOX	135935	broad.mit.edu	37	7	144097361	144097361	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:144097361G>T	ENST00000467773.1	-	5	888	c.889C>A	c.(889-891)Cct>Act	p.P297T	NOBOX_ENST00000483238.1_Missense_Mutation_p.P297T|NOBOX_ENST00000223140.5_Missense_Mutation_p.P212T	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	297					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCACTGTCAGGATAGTGGTCT	0.542000													18	129					0.000175454	0.00019596	1	1	0
PRKAA1	5562	broad.mit.edu	37	5	40775031	40775031	+	Splice_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:40775031T>C	ENST00000354209.3	-	4	591	c.408_splice	c.e4+1	p.E136_splice	PRKAA1_ENST00000296800.4_Intron|PRKAA1_ENST00000397128.2_Intron			Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	121	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.E136G(1)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AATTCCTACCTCCTTCGTGGA	0.373000													14	122					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342471	60342471	+	RNA	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:60342471G>A	ENST00000581291.1	-	0	1682																				breast(2)|kidney(1)|lung(2)	5						CCCTAGCTCTGAAGGGGGTGC	0.607000													47	334					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720200	140720200	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140720200C>G	ENST00000394576.2	+	1	1662	c.1662C>G	c.(1660-1662)gaC>gaG	p.D554E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.D554E(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACCAGAACGACA	0.607000													40	399					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240586	126240586	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:126240586A>T	ENST00000394329.3	+	1	3033	c.3020A>T	c.(3019-3021)gAg>gTg	p.E1007V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1007	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E1007V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACCCTTTCTGAGTCAGAACCT	0.393000													26	177					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945598	55945598	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:55945598G>A	ENST00000394256.2	+	1	616	c.588G>A	c.(586-588)atG>atA	p.M196I	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TAGAACTGATGGTCATCCTCT	0.473000													11	147					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90025573	90025573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:90025573C>A	ENST00000405460.2	+	50	10637	c.10541C>A	c.(10540-10542)tCa>tAa	p.S3514*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3514					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACACCAGCCTCAGGAATAGGT	0.378000													4	52					0.184627	0.186449	1	1	0
FAM46B	115572	broad.mit.edu	37	1	27332971	27332971	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:27332971C>T	ENST00000289166.5	-	2	907	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	248								p.E247K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TACAGGCTTTCGCCTGTGACC	0.622000													9	76					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63543865	63543865	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:63543865G>T	ENST00000299178.2	-	1	857	c.752C>A	c.(751-753)aCg>aAg	p.T251K		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	251					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.T251M(1)|p.T251K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCGCGACGCCGTCTTCCCGCG	0.617000													43	331					2.9001e-28	5.71183e-28	1	1	0
SECISBP2	79048	broad.mit.edu	37	9	91943595	91943595	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:91943595G>T	ENST00000375807.3	+	5	666	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.D131Y|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D126Y	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	199					translation	nucleus	mRNA 3'-UTR binding	p.D199Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TAAGCGAACAGACAGGAAATC	0.353000													17	89					0.000566183	0.000620779	1	1	0
JPH3	57338	broad.mit.edu	37	16	87678562	87678562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:87678562G>T	ENST00000284262.2	+	2	1323	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	361					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.E361*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAAGATCCGCGAGAAGGTGGA	0.677000													13	81					1.05317e-09	1.46882e-09	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47118740	47118740	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:47118740G>C	ENST00000290341.3	+	8	1153	c.818_splice	c.e8-1	p.T273_splice	IGF2BP1_ENST00000431824.2_Splice_Site_p.Q134_splice	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	273	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.T273T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTCCCAAGGGCTGACGAGG	0.498000													6	146					0	0	1	0	0
BBS5	129880	broad.mit.edu	37	2	170356090	170356090	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:170356090C>G	ENST00000295240.3	+	9	1152	c.776C>G	c.(775-777)gCc>gGc	p.A259G	BBS5_ENST00000554017.1_Missense_Mutation_p.A259G|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.A259G|BBS5_ENST00000392663.2_Missense_Mutation_p.A238G	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5									p.A259G(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTCTATTCTGCCAGTCCCATA	0.333000									Bardet-Biedl syndrome				23	149					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754562	47754562	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:47754562A>T	ENST00000359568.5	+	3	626	c.519A>T	c.(517-519)acA>acT	p.T173T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	173					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.T173T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGATGTTCACAATCAGTGACC	0.542000													13	135					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762699	130762699	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:130762699G>T	ENST00000392429.1	+	2	3510	c.1132G>T	c.(1132-1134)Gcc>Tcc	p.A378S	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A378S|TMEM200A_ENST00000296978.3_Missense_Mutation_p.A378S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	378						integral to membrane		p.A378S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCTGGGGCTGCCAGAAGACA	0.527000													12	90					5.50884e-06	6.56782e-06	1	1	0
CHD4	1108	broad.mit.edu	37	12	6710533	6710533	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6710533C>A	ENST00000309577.6	-	6	884	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	CHD4_ENST00000544040.1_Missense_Mutation_p.V234L|CHD4_ENST00000357008.2_Missense_Mutation_p.V241L|CHD4_ENST00000544484.1_Missense_Mutation_p.V238L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	241					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.V241L(2)		central_nervous_system(2)	2						GTGGCTGTCACCATGCTCTCC	0.577000													42	336					2.26627e-22	4.22946e-22	1	1	0
GDF6	392255	broad.mit.edu	37	8	97156800	97156800	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:97156800G>T	ENST00000287020.5	-	2	1458	c.1359C>A	c.(1357-1359)ggC>ggA	p.G453G		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	453					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCTACCTGCAGCCGCACGACT	0.617000													11	38					5.50884e-06	6.56782e-06	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41038867	41038867	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:41038867C>T	ENST00000399564.4	-	21	2635	c.2185G>A	c.(2185-2187)Gtc>Atc	p.V729I	MROH2B_ENST00000506092.2_Missense_Mutation_p.V284I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.V729I(1)									AGAGACAGGACTTGGGATATG	0.517000													20	84					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55474092	55474092	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:55474092G>A	ENST00000360586.3	-	7	571	c.504_splice	c.e7-1	p.T169_splice	WDHD1_ENST00000421192.1_Splice_Site_p.T46_splice|WDHD1_ENST00000420358.2_Splice_Site_p.T46_splice	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	169						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AATAGCACATGTCTAATTGGT	0.333000													4	89					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176315748	176315748	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:176315748T>A	ENST00000292432.5	-	9	1123	c.1032A>T	c.(1030-1032)caA>caT	p.Q344H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	344	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.Q344H(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGATGCTGCCTTGGCTCAGCA	0.622000													12	116					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44285403	44285403	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:44285403C>A	ENST00000216177.4	-	4	640	c.508G>T	c.(508-510)Gct>Tct	p.A170S	PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000597664.1_Missense_Mutation_p.A170S|PNPLA5_ENST00000593866.1_Intron	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	170	Patatin.				lipid catabolic process		hydrolase activity	p.A170S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTGCTCAGAGCCCCATCGATG	0.632000													34	206					2.20474e-14	3.58836e-14	1	1	0
ASTN1	460	broad.mit.edu	37	1	177001826	177001826	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:177001826C>T	ENST00000367654.2	-	3	644	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	ASTN1_ENST00000367657.3_Missense_Mutation_p.G211R|ASTN1_ENST00000361833.2_Missense_Mutation_p.G211R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G211R			O14525	ASTN1_HUMAN	astrotactin 1	211					cell migration|neuron cell-cell adhesion	integral to membrane		p.G211R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGTCCGTGCCCGCCGATCAGC	0.642000													58	149					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102364680	102364680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:102364680G>T	ENST00000438793.3	+	25	3303	c.2833G>T	c.(2833-2835)Ggc>Tgc	p.G945C	PAM_ENST00000379787.4_Missense_Mutation_p.G307C|PAM_ENST00000274392.9_Missense_Mutation_p.G847C|PAM_ENST00000348126.2_Missense_Mutation_p.G838C|PAM_ENST00000455264.2_Missense_Mutation_p.G877C|PAM_ENST00000304400.7_Missense_Mutation_p.G946C|PAM_ENST00000346918.2_Missense_Mutation_p.G859C	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	945					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TAGCACTGAGGGCAGTGACCA	0.488000													9	95					0.000442599	0.000485495	1	1	0
CEACAM5	1048	broad.mit.edu	37	19	42221645	42221645	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:42221645T>G	ENST00000221992.6	+	5	1344	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.N410K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.N409K	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	410	Ig-like 4.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.N410K(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCATCCTGAATGTCCTCTGTG	0.517000													54	284					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072236	134072236	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:134072236G>T	ENST00000264360.4	+	1	1767	c.941G>T	c.(940-942)gGc>gTc	p.G314V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	314	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G314V(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGGTAAGCGGCGAGTTGGAC	0.622000													21	142					7.45023e-12	1.1274e-11	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369305	56369305	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56369305C>A	ENST00000301295.6	+	3	968	c.546C>A	c.(544-546)ttC>ttA	p.F182L	NLRP4_ENST00000346986.5_Missense_Mutation_p.F182L|NLRP4_ENST00000587891.1_Missense_Mutation_p.F107L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	182	NACHT.						ATP binding	p.F182L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGATAGGTTCCTGTACACGT	0.502000													51	163					6.27289e-28	1.2325e-27	1	1	0
TUBA1B	10376	broad.mit.edu	37	12	49521755	49521755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49521755C>A	ENST00000336023.5	-	4	1436	c.1342G>T	c.(1342-1344)Gga>Tga	p.G448*	RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	448					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	p.G448*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TATTCCTCTCCTTCTTCCTCA	0.473000													41	250					1.62957e-23	3.07864e-23	1	1	0
FLNC	2318	broad.mit.edu	37	7	128470853	128470853	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:128470853C>A	ENST00000325888.8	+	1	423	c.162C>A	c.(160-162)ggC>ggA	p.G54G	FLNC_ENST00000346177.6_Silent_p.G54G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	54	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			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						AGTGCGTGGGCAAGCGCCTGA	0.642000													10	74					0.00829132	0.00865426	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547000													4	203					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45051245	45051245	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:45051245C>T	ENST00000398000.2	-	2	323	c.249G>A	c.(247-249)ctG>ctA	p.L83L	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Silent_p.L83L	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	83						extracellular region		p.L83L(2)		endometrium(1)|large_intestine(2)|lung(4)	7						GGTGGGAAGCCAGCCAGTTGT	0.522000													10	17					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056877	9056877	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9056877G>T	ENST00000397910.4	-	3	30772	c.30569C>A	c.(30568-30570)cCt>cAt	p.P10190H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10192	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5823H(1)|p.P10190H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGACCCAGGAGAAGAAGG	0.453000													14	64					9.31168e-06	1.10534e-05	1	1	0
VPS16	64601	broad.mit.edu	37	20	2843379	2843379	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:2843379G>T	ENST00000380443.3	+	1	277	c.188G>T	c.(187-189)gGg>gTg	p.G63V	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380445.3_Intron|VPS16_ENST00000481812.2_Intron			Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	401					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GGCCGGGCCGGGGAGGGTGGG	0.647000													27	55					1.7881e-09	2.47274e-09	1	1	0
STK10	6793	broad.mit.edu	37	5	171509466	171509466	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:171509466C>T	ENST00000176763.5	-	12	2196	c.1853G>A	c.(1852-1854)cGt>cAt	p.R618H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	618							ATP binding|protein serine/threonine kinase activity	p.R618H(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTTTGCTGACGCTCCAGGTT	0.547000													34	140					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81747008	81747008	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:81747008T>A	ENST00000550584.2	-	16	2179	c.1884A>T	c.(1882-1884)agA>agT	p.R628S	PPFIA2_ENST00000550359.2_Missense_Mutation_p.R475S|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R628S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R529S|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R628S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R610S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R610S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R554S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R195S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R628S	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	554								p.R628S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAATTGTTTCTCTGTCATCAT	0.433000													28	115					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90347593	90347593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:90347593C>T	ENST00000300060.6	-	6	1383	c.1070G>A	c.(1069-1071)tGg>tAg	p.W357*		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	357	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.W357*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CACCAGTCCCCAGTTCTCCAT	0.612000													19	119					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769450	247769450	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247769450C>T	ENST00000320002.2	+	1	595	c.563C>T	c.(562-564)gCt>gTt	p.A188V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCAAGTTGGCTTGTGTGGAC	0.438000													4	140					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538024	27538024	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:27538024C>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTAGGTGGACCTGTGACTTCA	0.502000													43	269					1.41504e-22	2.6509e-22	1	1	0
PSMD4	5710	broad.mit.edu	37	1	151239025	151239025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:151239025G>T	ENST00000368884.3	+	9	1005	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	PSMD4_ENST00000368881.4_Missense_Mutation_p.D312Y	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	309					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	p.D309Y(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCAGACATTGATGCCAGCTC	0.537000													74	70					4.18771e-30	8.3618e-30	1	1	0
NDUFS1	4719	broad.mit.edu	37	2	207008742	207008742	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207008742C>A	ENST00000233190.5	-	10	1253	c.987_splice	c.e10+1	p.M329_splice	NDUFS1_ENST00000449699.1_Splice_Site_p.M329_splice|NDUFS1_ENST00000432169.1_Splice_Site_p.M218_splice|NDUFS1_ENST00000440274.1_Splice_Site_p.M293_splice|NDUFS1_ENST00000423725.1_Splice_Site_p.M272_splice|NDUFS1_ENST00000457011.1_Splice_Site_p.M213_splice|NDUFS1_ENST00000455934.2_Splice_Site_p.M343_splice	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	329					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CAAATTTTACCATTCCAGCTA	0.378000													20	104					1.01871e-10	1.48045e-10	1	1	0
BMPER	168667	broad.mit.edu	37	7	34182962	34182962	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:34182962G>A	ENST00000297161.2	+	15	2240	c.1866G>A	c.(1864-1866)caG>caA	p.Q622Q	BMPER_ENST00000426693.1_Silent_p.Q622Q	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	622					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.Q622Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCCTCAGCAGAATTGTGCAG	0.483000													10	118					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259913	215259913	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:215259913G>A	ENST00000444842.2	+	2	399	c.249G>A	c.(247-249)ttG>ttA	p.L83L	KCNK2_ENST00000391895.2_Silent_p.L79L|KCNK2_ENST00000391894.2_Silent_p.L68L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	83							outward rectifier potassium channel activity	p.L83L(1)|p.L68L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCAAAGCATTGGAGCAGCCTC	0.468000													19	165					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65940369	65940369	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:65940369A>T	ENST00000321892.4	+	22	7020	c.6959A>T	c.(6958-6960)cAg>cTg	p.Q2320L	BPTF_ENST00000424123.3_Missense_Mutation_p.Q2181L|BPTF_ENST00000306378.6_Missense_Mutation_p.Q2194L|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000335221.5_Missense_Mutation_p.Q2320L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2320					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.Q2320L(1)|p.Q2194L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCCAGGCCAGCAGCTAATG	0.512000													126	216					0	0	1	0	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34392515	34392515	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:34392515G>C	ENST00000605528.1	-	3	269	c.253C>G	c.(253-255)Ctg>Gtg	p.L85V	RPS10_ENST00000326199.8_Missense_Mutation_p.L85V|RPS10_ENST00000344700.3_Missense_Mutation_p.L85V|RPS10_ENST00000494077.1_5'UTR	NM_001202470.2	NP_001189399.1																					TCCGGGGGCAGATGAAGGTAA	0.537000													5	55					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101717915	101717915	+	Splice_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:101717915T>C	ENST00000251127.6	-	40	4528		c.e40-2			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective							integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.?(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATCACCCCCTGCGGGGCAGA	0.512000													12	145					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49086998	49086998	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:49086998T>C	ENST00000344532.3	-	7	806	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000430805.2_Missense_Mutation_p.Y133C|RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000544904.1_Missense_Mutation_p.Y104C	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	128							Ran guanyl-nucleotide exchange factor activity	p.Y128C(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CAGCTGGCTATAAGCATTATG	0.368000													32	85					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450570	107450570	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:107450570C>A	ENST00000409382.3	-	3	1586	c.976G>T	c.(976-978)Gct>Tct	p.A326S	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A326S|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A326S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	326					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A326S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGTGTAGGAGCAGAGTTAAAT	0.373000													23	232					5.35047e-06	6.42266e-06	1	1	0
CLIP3	25999	broad.mit.edu	37	19	36517911	36517911	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36517911C>T	ENST00000360535.4	-	4	570	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	CLIP3_ENST00000593074.1_Missense_Mutation_p.G115R|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	115					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	p.G115R(2)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCGGTCAGCCCGTCACGATCG	0.632000													19	98					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71384525	71384525	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:71384525C>T	ENST00000339336.4	+	2	161	c.31C>T	c.(31-33)Cta>Tta	p.L11L	AMTN_ENST00000504451.1_Silent_p.L11L	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	11					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		p.L11L(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			GTTTTGTCTTCTAGGATCAAC	0.383000													18	131					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64480928	64480928	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:64480928G>A	ENST00000265459.6	-	2	705	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	NRXN2_ENST00000409571.1_Silent_p.L82L|NRXN2_ENST00000377559.3_Silent_p.L82L|NRXN2_ENST00000377551.1_Silent_p.L82L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	82	Laminin G-like 1.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCGTCCACCAGCAGCAGCTCC	0.716000													4	7					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24959289	24959289	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:24959289G>T	ENST00000396432.2	-	3	587	c.101C>A	c.(100-102)aCt>aAt	p.T34N		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	33					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.T33N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAGTGATACAGTTTCACTTTG	0.313000													17	77					6.94344e-10	9.73906e-10	1	1	0
LRP12	29967	broad.mit.edu	37	8	105503353	105503353	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:105503353C>A	ENST00000276654.5	-	7	2236	c.2128G>T	c.(2128-2130)Gat>Tat	p.D710Y	LRP12_ENST00000424843.2_Missense_Mutation_p.D691Y|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	710					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGTCACATCCCTTCCATTA	0.522000													8	118					0.000157383	0.000176097	1	1	0
GPR98	84059	broad.mit.edu	37	5	90012412	90012412	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:90012412C>A	ENST00000405460.2	+	43	9409	c.9313C>A	c.(9313-9315)Cgg>Agg	p.R3105R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3105					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R3105R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTACATTGTTCGGGAACCTGC	0.438000													12	59					0.00136819	0.0014693	1	1	0
FAM13A	10144	broad.mit.edu	37	4	89679943	89679943	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:89679943G>C	ENST00000264344.5	-	14	1895	c.1688C>G	c.(1687-1689)tCg>tGg	p.S563W	FAM13A_ENST00000395002.2_Missense_Mutation_p.S237W|FAM13A_ENST00000513837.1_Missense_Mutation_p.S209W|FAM13A_ENST00000503556.1_Missense_Mutation_p.S223W|FAM13A_ENST00000508369.1_Missense_Mutation_p.S237W|FAM13A_ENST00000511976.1_Missense_Mutation_p.S149W	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	563					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S563W(1)|p.S237W(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGTCAGGTCCGACTGGGGCAC	0.453000													20	108					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249357	43249357	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:43249357T>C	ENST00000255226.6	+	16	2939	c.2123T>C	c.(2122-2124)tTg>tCg	p.L708S	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L708S|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L185S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	708						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.L708S(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACTGTGACTTTGTACCTGGCA	0.572000													34	366					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29629149	29629149	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29629149C>G	ENST00000318184.5	-	13	1460	c.1461G>C	c.(1459-1461)aaG>aaC	p.K487N	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	487	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.K487N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAACTTGTGCTTTTCTTCAG	0.403000													15	244					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78510671	78510671	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78510671G>T	ENST00000397909.2	+	13	2929	c.2756G>T	c.(2755-2757)aGg>aTg	p.R919M	NAV3_ENST00000266692.7_Missense_Mutation_p.R919M|NAV3_ENST00000536525.2_Missense_Mutation_p.R919M|NAV3_ENST00000228327.6_Missense_Mutation_p.R919M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	919						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R919M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTCCCCTCTAGGAAGAATACT	0.438000										HNSCC(70;0.22)			26	187					1.16021e-09	1.61169e-09	1	1	0
PCLO	27445	broad.mit.edu	37	7	82474642	82474642	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:82474642C>A	ENST00000423517.2	-	13	14328	c.13991G>T	c.(13990-13992)aGc>aTc	p.S4664I	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.S4664I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4552	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4664I(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCCCAGGGCTGGGAACGGA	0.512000													8	62					3.07112e-06	3.71743e-06	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32589888	32589888	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:32589888C>A	ENST00000286827.3	-	10	2594	c.2123G>T	c.(2122-2124)gGa>gTa	p.G708V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.G708V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	708					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.G708V(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTTGGCCGTCCCTGCTTCTT	0.517000													20	171					8.10497e-08	1.05322e-07	1	1	0
SALL3	27164	broad.mit.edu	37	18	76753279	76753279	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:76753279G>T	ENST00000536229.3	+	1	1598	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	SALL3_ENST00000575389.2_Missense_Mutation_p.G430C|SALL3_ENST00000537592.2_Missense_Mutation_p.G430C			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G430C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAAGGTCTTCGGCAGCGACAG	0.632000													5	62					0.00116845	0.00125644	1	1	0
MYLK4	340156	broad.mit.edu	37	6	2749382	2749382	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:2749382A>G	ENST00000274643.7	-	2	489	c.147T>C	c.(145-147)tcT>tcC	p.S49S	MYLK4_ENST00000268446.5_Silent_p.S49S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	49							ATP binding|protein serine/threonine kinase activity	p.S49S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CATTATGTCCAGATCTTGAAT	0.383000													21	249					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84784942	84784942	+	Silent	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:84784942T>G	ENST00000389394.3	+	11	1823	c.1686T>G	c.(1684-1686)gcT>gcG	p.A562A	DNAH6_ENST00000237449.6_Silent_p.A562A|DNAH6_ENST00000398278.2_Silent_p.A562A	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	562	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A141A(1)|p.A562A(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTTGATGCTTTCACCAGCC	0.383000													23	215					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98589833	98589833	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:98589833G>T	ENST00000359863.4	+	64	10051	c.9842G>T	c.(9841-9843)cGg>cTg	p.R3281L	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3252L|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3252L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3281					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R3281L(1)|p.R3281M(1)|p.R3252L(1)|p.R3252M(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATAGAACAGCGGGAACGCTAC	0.592000													53	452					1.59911e-31	3.21393e-31	1	1	0
BRCA2	675	broad.mit.edu	37	13	32913803	32913803	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:32913803G>T	ENST00000544455.1	+	11	5538	c.5311G>T	c.(5311-5313)Ggt>Tgt	p.G1771C	BRCA2_ENST00000380152.3_Missense_Mutation_p.G1771C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1771			G -> D (in BC; unknown pathological significance).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.G1771C(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTTGATTCTGGTATTGAGCC	0.313000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	114					0.00010058	0.000113314	1	1	0
SASH1	23328	broad.mit.edu	37	6	148664245	148664245	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:148664245G>T	ENST00000367467.3	+	1	517	c.42G>T	c.(40-42)gaG>gaT	p.E14D	SASH1_ENST00000367469.1_Intron	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	14	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		cggagcctgagcccgagcccg	0.791000													3	17					0.004672	0.00491621	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3238801	3238801	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:3238801C>A	ENST00000217939.6	-	5	5079	c.4925G>T	c.(4924-4926)tGg>tTg	p.W1642L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1642						extracellular region		p.W1642L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGTTGGTCCAGTGACGAGG	0.463000													20	142					7.41877e-09	9.95747e-09	1	1	0
WDR75	84128	broad.mit.edu	37	2	190323582	190323582	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:190323582G>T	ENST00000314761.4	+	7	733	c.673G>T	c.(673-675)Ggc>Tgc	p.G225C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	225						nucleolus		p.D224_G225>EC(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCACATGGATGGCAAAATTCG	0.408000													39	197					3.4345e-17	5.95281e-17	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20784906	20784906	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:20784906C>A	ENST00000404938.2	+	26	3926	c.3274C>A	c.(3274-3276)Caa>Aaa	p.Q1092K	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q647K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	647					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	p.Q647K(1)|p.Q1092K(1)		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						GCTCCGTTCCCAAATAGCAAT	0.458000													40	140					3.05275e-18	5.3978e-18	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41316138	41316138	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:41316138C>A	ENST00000551295.2	+	5	425	c.308C>A	c.(307-309)cCt>cAt	p.P103H	CNTN1_ENST00000348761.2_Missense_Mutation_p.P92H|CNTN1_ENST00000547849.1_Missense_Mutation_p.P103H|CNTN1_ENST00000360099.3_Missense_Mutation_p.P103H|CNTN1_ENST00000547702.1_Missense_Mutation_p.P103H|CNTN1_ENST00000347616.1_Missense_Mutation_p.P103H	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	103	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.P103H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATCAACAACCCTGACAAACAG	0.398000													31	126					5.45727e-16	9.21806e-16	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76787428	76787428	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:76787428G>A	ENST00000286719.7	-	15	2190	c.1834C>T	c.(1834-1836)Cca>Tca	p.P612S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	612					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.P612S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCAGCTGTGGCCTCAGCATC	0.537000													23	132					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089569	32089569	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:32089569C>A	ENST00000438447.1	+	20	6403	c.6015C>A	c.(6013-6015)gtC>gtA	p.V2005V	PDZD2_ENST00000282493.3_Silent_p.V2005V			O15018	PDZD2_HUMAN	PDZ domain containing 2	2005					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.V2005V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACATGGCTGTCCTCTCTGAAC	0.607000													37	375					1.60099e-16	2.74008e-16	1	1	0
GPR158	57512	broad.mit.edu	37	10	25840010	25840010	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:25840010C>T	ENST00000376351.3	+	6	1869	c.1510C>T	c.(1510-1512)Cac>Tac	p.H504Y		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	504						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H504Y(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCTCAAACTTCACAGGTATAT	0.403000													23	214					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803248	157803248	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:157803248T>A	ENST00000368174.4	-	5	869	c.773A>T	c.(772-774)gAg>gTg	p.E258V		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	258	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.E258V(1)		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)			GTGCAGCACCTCCAGTCGCCC	0.567000													40	273					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													5	133					8.12818e-05	9.18253e-05	1	1	0
RADIL	55698	broad.mit.edu	37	7	4839071	4839071	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4839071G>T	ENST00000399583.3	-	15	3353	c.3166C>A	c.(3166-3168)Ctg>Atg	p.L1056M	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.L816M	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1056	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.L1056M(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGCGACCAGGAACCGCATC	0.652000													25	213					4.7796e-09	6.48547e-09	1	1	0
OLFM1	10439	broad.mit.edu	37	9	137967559	137967559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137967559G>T	ENST00000252854.4	+	1	194	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	OLFM1_ENST00000277415.11_Missense_Mutation_p.G3C|OLFM1_ENST00000371801.4_Missense_Mutation_p.G3C|OLFM1_ENST00000371799.4_Missense_Mutation_p.G3C	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	0					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTGCATGCCAGGTCGTTGGAG	0.711000													5	39					0.0215528	0.0221851	1	1	0
VPS72	6944	broad.mit.edu	37	1	151149508	151149508	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:151149508C>A	ENST00000354473.4	-	6	776	c.740G>T	c.(739-741)aGa>aTa	p.R247I	VPS72_ENST00000496809.1_Splice_Site	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	236					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGATCAAGTCTGAGGACaaa	0.507000													7	108					0.0293803	0.0301161	1	1	0
NCOA7	135112	broad.mit.edu	37	6	126203632	126203632	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:126203632G>A	ENST00000368357.3	+	8	986	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	NCOA7_ENST00000392477.2_Missense_Mutation_p.E212K|NCOA7_ENST00000229634.9_Missense_Mutation_p.E108K	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	212					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.E212K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GTCTACTTCTGAAGAAGATGA	0.353000													6	47					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137801875	137801875	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:137801875G>T	ENST00000371806.3	-	9	841	c.750C>A	c.(748-750)ggC>ggA	p.G250G		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	250	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.G250G(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TGTTGTTGTGGCCCGTTAGAG	0.507000													38	307					7.63091e-17	1.31427e-16	1	1	0
TCHH	7062	broad.mit.edu	37	1	152080784	152080784	+	Missense_Mutation	SNP	G	G	T	rs71585886		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152080784G>T	ENST00000368804.1	-	2	4908	c.4909C>A	c.(4909-4911)Cac>Aac	p.H1637N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1637	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.H1637N(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGCGGTGCAGCTGCTGT	0.617000													25	339					7.92952e-12	1.19625e-11	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140737049	140737049	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140737049C>A	ENST00000571252.1	+	1	2282	c.2282C>A	c.(2281-2283)gCg>gAg	p.A761E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTCACCGCGGACTCGCGG	0.592000													38	163					1.96642e-18	3.47948e-18	1	1	0
CILP2	148113	broad.mit.edu	37	19	19656806	19656806	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:19656806G>A	ENST00000586018.1	+	8	3572	c.3470G>A	c.(3469-3471)cGg>cAg	p.R1157Q	CILP2_ENST00000291495.4_Missense_Mutation_p.R1151Q			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1151						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCACCCGCCGGGGTAGGGTC	0.682000													5	20					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720447	146720447	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:146720447G>T	ENST00000392299.2	+	8	2742	c.2272G>T	c.(2272-2274)Ggc>Tgc	p.G758C	GRM1_ENST00000507907.1_Missense_Mutation_p.G758C|GRM1_ENST00000355289.4_Missense_Mutation_p.G758C|GRM1_ENST00000492807.2_Missense_Mutation_p.G758C|GRM1_ENST00000282753.1_Missense_Mutation_p.G758C|GRM1_ENST00000361719.2_Missense_Mutation_p.G758C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	758					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.G758C(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCCCCTTTGGGCTACAATGG	0.512000													6	177					0.00307968	0.00327149	1	1	0
ABHD16A	7920	broad.mit.edu	37	6	31657481	31657481	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31657481C>A	ENST00000375842.4	-	12	1287	c.300_splice	c.e12-1	p.G101_splice	ABHD16A_ENST00000395952.3_Splice_Site_p.G320_splice|ABHD16A_ENST00000440843.2_Splice_Site_p.G287_splice|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'UTR			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	320						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AATGGCACCCCCTGCAGGAGA	0.592000													7	64					2.17888e-05	2.53377e-05	1	1	0
AC010731.4	0	broad.mit.edu	37	2	207508978	207508978	+	RNA	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207508978C>G	ENST00000543490.1	+	0	193																											ATCCTGGGAACAGAGGAGGGA	0.502000													3	61					0	0	1	0	0
MGAT1	4245	broad.mit.edu	37	5	180219359	180219359	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:180219359C>A	ENST00000446023.2	-	3	1363	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	MGAT1_ENST00000393340.3_Missense_Mutation_p.A205S|MGAT1_ENST00000333055.3_Missense_Mutation_p.A205S|MGAT1_ENST00000427865.2_Missense_Mutation_p.A205S|MGAT1_ENST00000307826.4_Missense_Mutation_p.A205S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	205					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.A205S(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACCACGGCCGCGGGGAAG	0.672000													29	132					1.88708e-17	3.29401e-17	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181607	57181607	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:57181607G>A	ENST00000504228.1	+	6	2044	c.1939G>A	c.(1939-1941)Gcg>Acg	p.A647T	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A647T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A640T			Q6ZU35	K1211_HUMAN	KIAA1211	647										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGACGCGAGGGCGGGCAGCGG	0.672000													6	74					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167974027	167974027	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:167974027G>C	ENST00000367840.3	+	10	1468	c.1374G>C	c.(1372-1374)caG>caC	p.Q458H	DCAF6_ENST00000432587.2_Missense_Mutation_p.Q427H|DCAF6_ENST00000312263.6_Missense_Mutation_p.Q458H|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q458H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	458					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	p.Q458H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CACATCATCAGTCTGGTGAGG	0.398000													14	84					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30507518	30507518	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:30507518G>T	ENST00000356798.6	+	14	1784	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.G452V	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	535					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.G535V(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)	AACGGCGATGGGCTGGTAGAC	0.622000													91	251					7.70235e-37	1.59234e-36	1	1	0
CHST1	8534	broad.mit.edu	37	11	45671848	45671848	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:45671848C>A	ENST00000308064.2	-	4	1296	c.626G>T	c.(625-627)cGc>cTc	p.R209L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	209					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.R209L(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTCGGGCACGCGCACCGTCTT	0.677000													13	113					0.00498961	0.00524592	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140177024	140177024	+	Nonstop_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:140177024G>T	ENST00000378132.1	+	1	2581	c.2475G>T	c.(2473-2475)taG>taT	p.*825Y	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_031495.1	NP_113683.1												p.*825Y(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGATTCATAGTTCTTCATTT	0.244000													14	51					4.36969e-10	6.17489e-10	1	1	0
PDE1B	5153	broad.mit.edu	37	12	54963069	54963069	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:54963069G>T	ENST00000243052.3	+	4	765	c.329G>T	c.(328-330)cGg>cTg	p.R110L	PDE1B_ENST00000550620.1_Missense_Mutation_p.R90L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.R69L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	110					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R110L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CAGCAGGCCCGGGCCAAAGGC	0.647000													18	130					9.16793e-09	1.22639e-08	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20784905	20784905	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:20784905C>A	ENST00000404938.2	+	26	3925	c.3273C>A	c.(3271-3273)tcC>tcA	p.S1091S	ABCB5_ENST00000258738.6_Silent_p.S646S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	646					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	p.Q647K(1)|p.Q1092K(1)		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						GGCTCCGTTCCCAAATAGCAA	0.463000													40	136					1.7489e-18	3.10131e-18	1	1	0
MMRN1	22915	broad.mit.edu	37	4	90874276	90874276	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90874276C>A	ENST00000394980.1	+	9	3713	c.3394C>A	c.(3394-3396)Cca>Aca	p.P1132T	MMRN1_ENST00000264790.2_Missense_Mutation_p.P1132T|MMRN1_ENST00000508372.1_Missense_Mutation_p.P874T|MMRN1_ENST00000394981.1_Missense_Mutation_p.P435T			Q13201	MMRN1_HUMAN	multimerin 1	1132	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P1132T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTCATATACCCCAAGAACTGG	0.368000													16	104					0.000308642	0.000339769	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39228545	39228545	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:39228545C>T	ENST00000340369.3	-	2	2620	c.2392G>A	c.(2392-2394)Ggg>Agg	p.G798R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G798R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	798							actin binding	p.G798R(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAGCTCCCCTGGCCCTCGG	0.607000													20	133					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417278	89417278	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:89417278C>A	ENST00000490686.1	-	0	57																											AGCAGGAGCCCCAGGAGCTGA	0.527000													9	499					3.52763e-06	4.26162e-06	1	1	0
ITGA10	8515	broad.mit.edu	37	1	145539090	145539090	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145539090C>T	ENST00000369304.3	+	25	3205	c.3030C>T	c.(3028-3030)aaC>aaT	p.N1010N	ITGA10_ENST00000538811.1_Silent_p.N879N|ITGA10_ENST00000539363.1_Silent_p.N867N	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1010					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.N1010N(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCATCACTAACAATGTGAGTC	0.542000													29	140					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092199	35092199	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:35092199G>C	ENST00000378617.3	-	7	2079	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.S562C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	562					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.S562C(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAAACTATCAGAGAAGAACAC	0.597000													11	159					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17756803	17756803	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:17756803G>A	ENST00000428389.2	-	19	2425	c.2426C>T	c.(2425-2427)cCg>cTg	p.P809L	UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	721					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCCCACACCGGGTTGAGGTT	0.572000													6	33					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7079972	7079972	+	Splice_Site	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:7079972A>G	ENST00000389658.3	-	3	439		c.e3+1		RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.?(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCTCACCTACCTGTCTTAA	0.468000													16	45					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104513165	104513165	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:104513165C>A	ENST00000406091.3	+	1	51	c.51C>A	c.(49-51)gcC>gcA	p.A17A	RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	17					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.A17E(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCCGGCGGCCTCTCAGCCGC	0.652000										HNSCC(12;0.0054)			7	98					8.12818e-05	9.18253e-05	1	1	0
WIPI2	26100	broad.mit.edu	37	7	5239262	5239262	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:5239262G>T	ENST00000288828.4	+	3	416	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	WIPI2_ENST00000401525.3_Missense_Mutation_p.D44Y|WIPI2_ENST00000485854.1_3'UTR|WIPI2_ENST00000404704.3_Missense_Mutation_p.D62Y|WIPI2_ENST00000382384.2_Missense_Mutation_p.D44Y	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	62					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.D62Y(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTCTTCTGTGGATAAGCTGGA	0.358000													64	233					5.94106e-25	1.13551e-24	1	1	0
ANO6	196527	broad.mit.edu	37	12	45771893	45771893	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:45771893T>A	ENST00000320560.8	+	10	1364	c.1162T>A	c.(1162-1164)Tgg>Agg	p.W388R	ANO6_ENST00000425752.2_Missense_Mutation_p.W388R|ANO6_ENST00000435642.1_Missense_Mutation_p.W388R|ANO6_ENST00000441606.2_Missense_Mutation_p.W370R|ANO6_ENST00000423947.3_Missense_Mutation_p.W409R|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	388					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.W388R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TATGGGAGTATGGGGTAAGTT	0.333000													19	115					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74447533	74447533	+	Splice_Site	SNP	C	C	A	rs147074403		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:74447533C>A	ENST00000307439.5	-	8	1016		c.e8+1		RASSF6_ENST00000342081.3_Splice_Site|RASSF6_ENST00000335049.5_Splice_Site|RASSF6_ENST00000395777.2_Splice_Site	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6						apoptosis|signal transduction		protein binding	p.?(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AGCTTTCTTACCTCCTGTTGC	0.388000													12	94					0.0167234	0.0172937	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38572845	38572845	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:38572845C>T	ENST00000222345.6	+	3	1149	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	214					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAGGGCATGCCCGAGCAGAG	0.726000													5	195					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359870	77359870	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:77359870G>T	ENST00000282849.5	-	13	2343	c.1925C>A	c.(1924-1926)cCt>cAt	p.P642H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	642	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P642H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTGCAAGGGTTAATATT	0.388000													11	91					1.58986e-06	1.94651e-06	1	1	0
TAX1BP1	8887	broad.mit.edu	37	7	27827145	27827145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:27827145G>T	ENST00000396319.2	+	8	1049	c.961G>T	c.(961-963)Gag>Tag	p.E321*	TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.E321*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.E321*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.E321*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.E164*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	321	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.E321*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTTCAAAGAAGAGATTGGCAG	0.343000													20	100					0.000175454	0.00019596	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128302064	128302064	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:128302064C>T	ENST00000262462.4	+	1	1244	c.234C>T	c.(232-234)gaC>gaT	p.D78D	SLC27A6_ENST00000395266.1_Silent_p.D78D|SLC27A6_ENST00000506176.1_Silent_p.D78D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	78					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.D78D(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATGAGGGAGACATCTACACCT	0.478000													14	91					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472659	2472659	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:2472659C>T	ENST00000258711.6	+	2	520	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	129					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.R129W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCGTGCTGCGGGGCTTCTG	0.701000													34	197					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857738	9857738	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9857738C>A	ENST00000396573.2	-	14	3972	c.3663G>T	c.(3661-3663)atG>atT	p.M1221I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M1221I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M1221I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M1221I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M1064I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M1221I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1221					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.M1221I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AATAGGTGGGCATGTTGGAAA	0.562000													20	424					1.00905e-13	1.61448e-13	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656897	40656897	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:40656897G>T	ENST00000406785.1	-	2	713	c.524C>A	c.(523-525)gCt>gAt	p.A175D	SLC8A1_ENST00000332839.4_Missense_Mutation_p.A175D|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A175D|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A175D|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A175D|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A175D|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A175D|SLC8A1_ENST00000403092.1_Missense_Mutation_p.A175D|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A175D|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A175D			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	175					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTGAATGCAGCACTTCCCAC	0.463000													10	81					1.76689e-08	2.33557e-08	1	1	0
PDZD8	118987	broad.mit.edu	37	10	119043130	119043130	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:119043130G>A	ENST00000334464.5	-	5	3353	c.3114C>T	c.(3112-3114)ttC>ttT	p.F1038F		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1038					intracellular signal transduction		metal ion binding	p.F1038F(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATCCAACATGAACTCTAGTT	0.398000													52	171					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362498	9362498	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:9362498G>C	ENST00000456448.1	+	1	893	c.779G>C	c.(778-780)gGc>gCc	p.G260A		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G260A(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCACCTGTGGCTCTCACCTG	0.463000													7	38					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949374	131949374	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:131949374G>T	ENST00000286355.5	-	5	3518	c.1426C>A	c.(1426-1428)Cag>Aag	p.Q476K	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.Q476K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	476					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.Q476K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCATGGTCCTGGCGGGGCTCA	0.507000										HNSCC(32;0.087)			16	139					3.57192e-18	6.31125e-18	1	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58549271	58549271	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58549271G>T	ENST00000282326.1	+	3	314	c.67G>T	c.(67-69)Gac>Tac	p.D23Y	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.D23Y|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.D23Y	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	23					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAGTGAGCAGGACGCAGACCC	0.692000													10	24					1.04858e-14	1.72955e-14	1	1	0
TAB1	10454	broad.mit.edu	37	22	39813767	39813767	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:39813767C>A	ENST00000216160.6	+	5	525	c.463C>A	c.(463-465)Ctc>Atc	p.L155I	TAB1_ENST00000331454.3_Missense_Mutation_p.L155I	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	155	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	p.L155I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCTTGAGAGACTCAAGACGTT	0.562000													23	135					9.57634e-11	1.39747e-10	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37027144	37027144	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:37027144C>A	ENST00000358047.3	+	1	713	c.661C>A	c.(661-663)Cat>Aat	p.H221N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	221								p.H221N(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGAGTGTCCCATCTCCGCCC	0.662000													32	83					6.84511e-11	1.00308e-10	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108447959	108447959	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:108447959G>C	ENST00000263054.6	-	10	1558	c.1551C>G	c.(1549-1551)caC>caG	p.H517Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.H517Q|SORCS1_ENST00000369698.1_Missense_Mutation_p.H52Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	517						integral to membrane	neuropeptide receptor activity|protein binding	p.H517Q(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCAGCAAGCAGTGCACGGGGT	0.493000													47	131					0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71929622	71929622	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:71929622G>T	ENST00000449475.2	+	2	343	c.45G>T	c.(43-45)caG>caT	p.Q15H	FOLR2_ENST00000298223.6_5'UTR|FOLR2_ENST00000454954.2_Intron			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	0					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TGCAGGGACAGAAAGACATGG	0.567000													4	40					0.150653	0.152642	1	1	0
TTC40	54777	broad.mit.edu	37	10	134664759	134664759	+	Silent	SNP	G	G	A	rs150581785	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:134664759G>A	ENST00000368586.5	-	40	5725	c.5625C>T	c.(5623-5625)ctC>ctT	p.L1875L	TTC40_ENST00000263170.5_Silent_p.L36L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	36										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCACGAGGCCGAGCTTGAGGC	0.617000													12	77					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110128497	110128497	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:110128497G>T	ENST00000343115.4	-	7	1012	c.693C>A	c.(691-693)gaC>gaA	p.D231E	RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Missense_Mutation_p.D95E|RDX_ENST00000405097.1_Missense_Mutation_p.D231E|RDX_ENST00000528498.1_Missense_Mutation_p.D231E	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	231	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	p.D231E(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTACTTGTCGTCATGCTCAT	0.323000													25	165					2.41591e-17	4.1978e-17	1	1	0
NHS	4810	broad.mit.edu	37	X	17744755	17744755	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:17744755G>T	ENST00000380060.3	+	6	2804	c.2466G>T	c.(2464-2466)agG>agT	p.R822S	NHS_ENST00000398097.3_Missense_Mutation_p.R666S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	822						nucleus		p.R822S(1)|p.R666S(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCTCTTTCAGGAAACCAAAGG	0.493000													49	115					1.07234e-20	1.9669e-20	1	1	0
ASPM	259266	broad.mit.edu	37	1	197094181	197094181	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:197094181T>A	ENST00000367409.4	-	11	3333	c.3077A>T	c.(3076-3078)gAg>gTg	p.E1026V	ASPM_ENST00000367408.1_Missense_Mutation_p.E276V|ASPM_ENST00000294732.7_Missense_Mutation_p.E1026V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1026	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.E1026V(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTACCATGCTCATCACTTAA	0.343000													20	99					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263129	263129	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:263129G>A	ENST00000360127.6	+	2	511	c.495G>A	c.(493-495)cgG>cgA	p.R165R	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	165								p.R165R(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTGCGAATCGGATCAACGAAA	0.512000													29	144					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748242	111748242	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:111748242G>T	ENST00000261726.6	+	15	1810	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	552						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGGAGCAGCTGGACACGG	0.706000													23	89					3.5997e-14	5.81636e-14	1	1	0
MYH3	4621	broad.mit.edu	37	17	10547773	10547773	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10547773C>T	ENST00000583535.1	-	14	1392	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	MYH3_ENST00000226209.7_Silent_p.K435K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	435	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K435K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACAAGAACAACTTTTCATAAA	0.443000													38	112					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926757	1926757	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:1926757C>G	ENST00000399161.2	-	10	1531	c.784G>C	c.(784-786)Gtg>Ctg	p.V262L	MYT1L_ENST00000428368.2_Missense_Mutation_p.V262L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	262					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V262L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGGAGTCCACTGTTTCTCTA	0.428000													29	250					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597508	247597508	+	Missense_Mutation	SNP	G	G	C	rs141389711	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247597508G>C	ENST00000366497.2	+	6	3211	c.2431G>C	c.(2431-2433)Ggt>Cgt	p.G811R	NLRP3_ENST00000336119.3_Missense_Mutation_p.G811R|NLRP3_ENST00000391828.3_Missense_Mutation_p.G811R|NLRP3_ENST00000366496.2_Missense_Mutation_p.G811R|NLRP3_ENST00000348069.2_Missense_Mutation_p.G754R|NLRP3_ENST00000391827.2_Missense_Mutation_p.G754R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	868					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G811R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAACGCCCTCGGTGACTTCGG	0.572000													23	209					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94654449	94654449	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:94654449C>A	ENST00000258526.4	+	20	3532	c.3283C>A	c.(3283-3285)Ctg>Atg	p.L1095M	PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.L142M	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1095					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.L1095M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACCATTGCACTGCAAACCAA	0.522000													17	83					6.49762e-13	1.01709e-12	1	1	0
KDM5B	10765	broad.mit.edu	37	1	202715449	202715449	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:202715449T>A	ENST00000367265.3	-	15	3183	c.2019A>T	c.(2017-2019)ggA>ggT	p.G673G	KDM5B_ENST00000367264.2_Silent_p.G709G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	673					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.G673G(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCAATCACTCCCTAGAATA	0.378000													30	105					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363197	22363197	+	RNA	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:22363197T>C	ENST00000390438.2	+	0	456																											TGAGTACTTCTGTGCTGTGAG	0.483000													17	101					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113565	55113565	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:55113565G>C	ENST00000370862.3	+	2	688	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	118					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.E118Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATATCACTGAGACCTGGTT	0.428000													27	394					0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538373	31538373	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:31538373C>A	ENST00000286808.3	-	1	598	c.563G>T	c.(562-564)tGc>tTc	p.C188F		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	188					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.C188F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTTTCTGTTGCAGCAGCAAAA	0.512000													7	102					0.00198382	0.00211837	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70505073	70505073	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:70505073G>T	ENST00000310961.5	+	22	3885	c.3467G>T	c.(3466-3468)gGg>gTg	p.G1156V	LRRC7_ENST00000035383.5_Missense_Mutation_p.G1151V|LRRC7_ENST00000415775.2_Missense_Mutation_p.G435V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1151						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATAGGGGAGGGCTGGATCGC	0.517000													14	183					9.31168e-06	1.10534e-05	1	1	0
COL9A1	1297	broad.mit.edu	37	6	70993521	70993521	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:70993521A>C	ENST00000357250.6	-	6	857	c.699T>G	c.(697-699)ttT>ttG	p.F233L	COL9A1_ENST00000370496.3_Missense_Mutation_p.F233L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	233	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATTGAAGTTCAAACTGGAGAA	0.473000													4	14					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85609394	85609394	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:85609394C>A	ENST00000322366.6	-	61	9744	c.9337G>T	c.(9337-9339)Gtc>Ttc	p.V3113F	WDFY3_ENST00000295888.4_Missense_Mutation_p.V3130F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3130						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGCAGGTGACGGTATCAGTG	0.468000													6	63					0.00116845	0.00125644	1	1	0
BSND	7809	broad.mit.edu	37	1	55464866	55464866	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:55464866G>T	ENST00000371265.4	+	1	261	c.7G>T	c.(7-9)Gac>Tac	p.D3Y		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	3						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		p.D3Y(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						AGCCATGGCTGACGAGAAGAC	0.617000													19	157					5.35267e-07	6.73816e-07	1	1	0
ZNF229	7772	broad.mit.edu	37	19	44936498	44936498	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44936498T>G	ENST00000291187.4	-	5	459	c.137A>C	c.(136-138)gAg>gCg	p.E46A	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.E46A	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E46A(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTAGCTCCTCCTCAGTGAA	0.478000													39	241					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70900088	70900088	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:70900088G>T	ENST00000393567.2	-	67	11605	c.11455C>A	c.(11455-11457)Cag>Aag	p.Q3819K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3819								p.Q3818K(1)|p.Q3770K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACTCGGGTCTGGTAAACCAAG	0.418000													17	71					1.10513e-12	1.71677e-12	1	1	0
FLG	2312	broad.mit.edu	37	1	152283512	152283512	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152283512C>G	ENST00000368799.1	-	3	3885	c.3850G>C	c.(3850-3852)Gag>Cag	p.E1284Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1284	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACAACCTCTCGGAGTCGTCT	0.552000									Ichthyosis				11	606					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27286796	27286796	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:27286796G>A	ENST00000317338.12	-	8	2119	c.1691C>T	c.(1690-1692)aCc>aTc	p.T564I	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.T564I|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.T564I			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	564	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CTGCTCCAGGGTGTAGCCAGG	0.572000													4	92					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113317037	113317037	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113317037G>T	ENST00000297405.5	-	52	8423	c.8179C>A	c.(8179-8181)Cct>Act	p.P2727T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2687T|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2657T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2727	Sushi 16.					integral to membrane|plasma membrane		p.P2727S(1)|p.P2687T(1)|p.P2727T(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						TGATAACCAGGGTCACAGCTG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	89					0.000274275	0.000302072	1	1	0
CELA3B	23436	broad.mit.edu	37	1	22310312	22310312	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:22310312G>C	ENST00000337107.6	+	5	507	c.488G>C	c.(487-489)gGc>gCc	p.G163A		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	163	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACCGGCTGGGGCCGTCTCTAT	0.622000													16	219					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118310	106118310	+	Missense_Mutation	SNP	A	A	T	rs139964001		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:106118310A>T	ENST00000369704.3	+	2	355	c.221A>T	c.(220-222)aAt>aTt	p.N74I	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	74								p.N74I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTGTAGTGAATTCTGCGAAG	0.433000													37	96					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47103906	47103906	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:47103906G>T	ENST00000377107.2	+	14	2154	c.1800G>T	c.(1798-1800)gtG>gtT	p.V600V	USP11_ENST00000218348.3_Silent_p.V643V			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	643					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V643V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GACGCTACGTGACCAAACCCA	0.552000													9	50					3.86212e-05	4.42621e-05	1	1	0
QPCT	25797	broad.mit.edu	37	2	37599510	37599510	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:37599510C>T	ENST00000338415.3	+	6	993	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	QPCT_ENST00000537448.1_Missense_Mutation_p.H230Y	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	279					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	p.H279Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACATGAACTTCATGAATTGGG	0.338000													62	247					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116299126	116299126	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:116299126G>T	ENST00000374140.2	+	20	2174	c.1965G>T	c.(1963-1965)aaG>aaT	p.K655N	RGS3_ENST00000394646.3_Missense_Mutation_p.K374N|RGS3_ENST00000343817.5_Missense_Mutation_p.K374N|RGS3_ENST00000350696.5_Missense_Mutation_p.K655N|RGS3_ENST00000374136.1_Missense_Mutation_p.K281N|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000317613.6_Missense_Mutation_p.K543N	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	655					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.K655N(1)|p.K543N(1)|p.K551N(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCAGAAGAAGAGAGTGTGCT	0.572000													26	198					1.66031e-10	2.39583e-10	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714421	70714421	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:70714421G>T	ENST00000530196.1	-	0	97					NR_003951.1																						AGCAGAAGAGGACAAGGTGTG	0.547000													9	317					0.000274275	0.000302072	1	1	0
OR8B12	219858	broad.mit.edu	37	11	124413356	124413356	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:124413356G>C	ENST00000306842.2	-	1	219	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L65L(2)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CTATTAAAGAGAGGTTAAAAA	0.453000													5	107					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183306	35183306	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:35183306G>T	ENST00000381318.3	+	21	2635	c.2347G>T	c.(2347-2349)Ggc>Tgc	p.G783C	ITSN1_ENST00000399349.1_Missense_Mutation_p.G778C|ITSN1_ENST00000437442.2_Missense_Mutation_p.G778C|ITSN1_ENST00000399353.1_Missense_Mutation_p.G741C|ITSN1_ENST00000399355.2_Missense_Mutation_p.G783C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.G778C|ITSN1_ENST00000399326.3_Missense_Mutation_p.G778C|ITSN1_ENST00000399352.1_Missense_Mutation_p.G778C|ITSN1_ENST00000381285.4_Missense_Mutation_p.G783C|ITSN1_ENST00000399338.4_Missense_Mutation_p.G778C|ITSN1_ENST00000381291.4_Missense_Mutation_p.G783C|ITSN1_ENST00000379960.5_Missense_Mutation_p.G778C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	783	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.G783C(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGGAGAACCCGGCTGGCTTGG	0.463000													32	234					3.70037e-05	4.26072e-05	1	1	0
RADIL	55698	broad.mit.edu	37	7	4874578	4874578	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:4874578G>C	ENST00000399583.3	-	4	1263	c.1076C>G	c.(1075-1077)gCg>gGg	p.A359G	RADIL_ENST00000536091.1_Missense_Mutation_p.A359G|RADIL_ENST00000538469.1_Missense_Mutation_p.A119G	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	359	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.A359G(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGGGCCTGCGCGGGGTCCTT	0.746000													5	28					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17708504	17708504	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:17708504C>A	ENST00000434762.2	+	0	646							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCAAGGCCCCAGCTGTATC	0.498000													7	157					0.0293803	0.0301161	1	1	0
DGKZ	8525	broad.mit.edu	37	11	46393118	46393118	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:46393118C>A	ENST00000454345.1	+	9	1413	c.1288C>A	c.(1288-1290)Ccg>Acg	p.P430T	DGKZ_ENST00000456247.2_Missense_Mutation_p.P241T|DGKZ_ENST00000528615.1_Missense_Mutation_p.P20T|DGKZ_ENST00000421244.2_Missense_Mutation_p.P242T|DGKZ_ENST00000318201.8_Missense_Mutation_p.P219T|DGKZ_ENST00000395574.3_Missense_Mutation_p.P208T|DGKZ_ENST00000532868.2_Missense_Mutation_p.P246T|DGKZ_ENST00000527911.1_Missense_Mutation_p.P242T|DGKZ_ENST00000343674.6_Missense_Mutation_p.P258T|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	430					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.P258T(1)|p.P242T(1)|p.P430T(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CGTGGTCATCCCGCCCACCTG	0.677000													7	54					0.0381472	0.0389886	1	1	0
PIGV	55650	broad.mit.edu	37	1	27121068	27121068	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:27121068G>C	ENST00000374145.1	+	3	1225	c.543G>C	c.(541-543)atG>atC	p.M181I	PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Missense_Mutation_p.M181I	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	181					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCAGTGCCATGGGGCAGCTGG	0.557000													9	115					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145212	55145212	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:55145212G>T	ENST00000370862.3	+	6	1411	c.1075G>T	c.(1075-1077)Gcg>Tcg	p.A359S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	359					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.A359S(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAATAGTGCTGCGAATCCAAT	0.398000													10	207					2.27111e-07	2.89758e-07	1	1	0
PPL	5493	broad.mit.edu	37	16	4933740	4933740	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:4933740C>T	ENST00000345988.2	-	22	5005	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H	PPL_ENST00000590782.2_Missense_Mutation_p.R1637H	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1639					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.R1639H(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGAGCCCAGGCGCTTCTGCAG	0.632000													22	102					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78542637	78542637	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:78542637C>G	ENST00000397909.2	+	22	4896	c.4723C>G	c.(4723-4725)Cgg>Ggg	p.R1575G	NAV3_ENST00000266692.7_Missense_Mutation_p.R1398G|NAV3_ENST00000536525.2_Missense_Mutation_p.R1575G|NAV3_ENST00000228327.6_Missense_Mutation_p.R1575G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.R1575G(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCATAAACTGCGGAGAGAGCT	0.333000										HNSCC(70;0.22)			6	50					0	0	1	0	0
FAM228A	653140	broad.mit.edu	37	2	24406434	24406434	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:24406434C>T	ENST00000295150.3	+	5	407	c.321C>T	c.(319-321)ttC>ttT	p.F107F	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A									p.F107F(1)									CGCCCTACTTCACTTTCACTT	0.413000													18	66					0	0	1	0	0
C1orf222	339457	broad.mit.edu	37	1	1920390	1920390	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:1920390C>G	ENST00000434971.2	-	3	122	c.90G>C	c.(88-90)ccG>ccC	p.P30P				Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222	64								p.P30P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTCAAACTCCGGATCCTCTA	0.438000													8	53					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078178	179078178	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179078178C>A	ENST00000502732.1	-	12	2427	c.2224G>T	c.(2224-2226)Ggg>Tgg	p.G742W	ABL2_ENST00000504405.1_Intron|ABL2_ENST00000512653.1_Missense_Mutation_p.G727W|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000408940.3_Missense_Mutation_p.G706W|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000367623.4_Missense_Mutation_p.G721W|ABL2_ENST00000507173.1_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	742	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G706W(1)|p.G742W(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCCACCCCCAGCAGTGCCA	0.567000			T	ETV6	AML								23	33					3.7963e-18	6.68367e-18	1	1	0
MECP2	4204	broad.mit.edu	37	X	153297886	153297886	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:153297886G>C	ENST00000303391.6	-	3	398	c.149C>G	c.(148-150)gCc>gGc	p.A50G	MECP2_ENST00000453960.2_Missense_Mutation_p.A62G|MECP2_ENST00000407218.1_Missense_Mutation_p.A50G|MECP2_ENST00000480620.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	50					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	p.A50G(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTGGTGGGCTGATGGCTG	0.572000													27	255					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366486	248366486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248366486C>A	ENST00000456743.1	+	1	155	c.117C>A	c.(115-117)ttC>ttA	p.F39L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F39L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGTGGCCTTCATGGGAAACT	0.547000													59	550					2.01871e-26	3.91006e-26	1	1	0
COL27A1	85301	broad.mit.edu	37	9	116931016	116931016	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:116931016C>G	ENST00000356083.3	+	3	1572	c.1181C>G	c.(1180-1182)tCt>tGt	p.S394C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	394	Pro-rich.				cell adhesion		extracellular matrix structural constituent	p.S394C(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACAGCTCCATCTTCATTTACA	0.547000													30	340					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33724961	33724961	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:33724961G>T	ENST00000358232.6	+	9	919	c.856G>T	c.(856-858)Gta>Tta	p.V286L	ELP2_ENST00000542824.1_Missense_Mutation_p.V260L|ELP2_ENST00000442325.2_Missense_Mutation_p.V351L|ELP2_ENST00000350494.6_Missense_Mutation_p.V325L|ELP2_ENST00000351393.6_Missense_Mutation_p.V260L|ELP2_ENST00000423854.2_Missense_Mutation_p.V216L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	286					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.V286L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGAAAACTGGGTAAATGCAGT	0.398000													30	183					6.70999e-13	1.049e-12	1	1	0
ZNF404	342908	broad.mit.edu	37	19	44377026	44377026	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:44377026G>T	ENST00000587539.1	-	3	1339	c.1340C>A	c.(1339-1341)aCc>aAc	p.T447N	ZNF404_ENST00000324394.6_Missense_Mutation_p.T445N	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T445N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAGTCTAAAGGTTTTTCCACA	0.373000													7	16					0.000157383	0.000176097	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22806833	22806833	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:22806833C>A	ENST00000361524.3	-	4	1197	c.1049G>T	c.(1048-1050)gGc>gTc	p.G350V	ZNF521_ENST00000584787.1_Missense_Mutation_p.G130V|ZNF521_ENST00000538137.2_Missense_Mutation_p.G350V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	350					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.G350V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGAGGTATAGCCCACCGTGAC	0.562000			T	PAX5	ALL								19	101					1.01871e-10	1.48045e-10	1	1	0
ACE	1636	broad.mit.edu	37	17	61558508	61558508	+	Missense_Mutation	SNP	G	G	A	rs139813210		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:61558508G>A	ENST00000290866.4	+	6	928	c.904G>A	c.(904-906)Gac>Aac	p.D302N	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.D302N|ACE_ENST00000538928.1_Missense_Mutation_p.D302N	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	302	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.D302N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCCTTTCCCAGACAAGCCCAA	0.592000													20	203					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688679	26688679	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:26688679C>G	ENST00000529632.2	+	2	598	c.402C>G	c.(400-402)ccC>ccG	p.P134P	SEZ6L_ENST00000360929.3_Silent_p.P134P|SEZ6L_ENST00000248933.6_Silent_p.P134P|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Silent_p.P134P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.P134P	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	134						endoplasmic reticulum membrane|integral to membrane		p.P134P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGCTGAGGCCCAAGGCCACCT	0.662000													10	53					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31157193	31157193	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:31157193G>A	ENST00000268281.4	-	6	695	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	PRSS36_ENST00000569305.1_Missense_Mutation_p.P213S|PRSS36_ENST00000418068.2_Missense_Mutation_p.P213S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	213	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	p.P213S(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AAGGGACCGGGCTGGCTGTAG	0.627000													37	103					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2604050	2604050	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:2604050C>A	ENST00000570628.1	-	8	1086	c.981G>T	c.(979-981)gcG>gcT	p.A327A	CLUH_ENST00000538975.1_Silent_p.A327A|CLUH_ENST00000575014.1_Silent_p.A259A|CLUH_ENST00000435359.1_Silent_p.A327A					clustered mitochondria (cluA/CLU1) homolog									p.A327A(2)									TGGCATGCTCCGCCTGGGGGG	0.667000													39	77					9.21781e-06	1.09685e-05	1	1	0
IL4R	3566	broad.mit.edu	37	16	27373906	27373906	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:27373906C>T	ENST00000395762.2	+	11	1492	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL4R_ENST00000380922.3_Silent_p.F396F|IL4R_ENST00000543915.2_Silent_p.F411F|IL4R_ENST00000170630.2_Silent_p.F411F	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	411					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.F411F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGAGCCTGTTCCTGGACCTGC	0.582000													14	108					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273139	125273139	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:125273139G>T	ENST00000335302.5	+	1	59	c.59G>T	c.(58-60)cGg>cTg	p.R20L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTCCCCATCCGGCCAGAGCAG	0.567000													30	284					6.50621e-10	9.15717e-10	1	1	0
NEFH	4744	broad.mit.edu	37	22	29886346	29886346	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:29886346C>A	ENST00000310624.6	+	4	2750	c.2717C>A	c.(2716-2718)cCa>cAa	p.P906Q		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	912	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCCCCACCCCAGAGAAGGAG	0.498000													5	57					0.217242	0.218667	1	1	0
TTC40	54777	broad.mit.edu	37	10	134664760	134664760	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:134664760A>G	ENST00000368586.5	-	40	5724	c.5624T>C	c.(5623-5625)cTc>cCc	p.L1875P	TTC40_ENST00000263170.5_Missense_Mutation_p.L36P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	36										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CACGAGGCCGAGCTTGAGGCG	0.617000													11	79					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865608	118865608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:118865608C>A	ENST00000295622.1	+	1	612	c.572C>A	c.(571-573)tCc>tAc	p.S191Y		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	191								p.S191Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAGCTTCCGAGCAGATG	0.512000													43	226					5.78141e-17	9.97832e-17	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35199148	35199148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:35199148G>T	ENST00000399326.3	+	23	3029	c.3028G>T	c.(3028-3030)Gag>Tag	p.E1010*	ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000381318.3_Silent_p.G1070G|ITSN1_ENST00000437442.2_Silent_p.G1065G|ITSN1_ENST00000399353.1_Silent_p.G1028G|ITSN1_ENST00000399355.2_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.G1065G|ITSN1_ENST00000399352.1_Silent_p.G1065G|ITSN1_ENST00000381285.4_Silent_p.G1070G|ITSN1_ENST00000381291.4_Silent_p.G1070G|ITSN1_ENST00000379960.5_Intron			Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	0	SH3 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.G1070G(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAACAGGGAGTTTAGGAA	0.378000													6	98					5.18039e-06	6.22154e-06	1	1	0
GPR112	139378	broad.mit.edu	37	X	135427823	135427823	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135427823A>T	ENST00000394143.1	+	6	2249	c.1958A>T	c.(1957-1959)gAg>gTg	p.E653V	GPR112_ENST00000412101.1_Missense_Mutation_p.E448V|GPR112_ENST00000394141.1_Missense_Mutation_p.E448V|GPR112_ENST00000370652.1_Missense_Mutation_p.E653V|GPR112_ENST00000287534.4_Missense_Mutation_p.E590V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	653					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E653V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCAGCAATGAGACCATTTGG	0.468000													24	161					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43288497	43288497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:43288497G>T	ENST00000374518.4	+	8	1057	c.994G>T	c.(994-996)Gag>Tag	p.E332*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	332					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.E332*(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAATGAGAAGGAGAAGCTGGT	0.493000													12	219					1.5842e-08	2.10769e-08	1	1	0
PTPRH	5794	broad.mit.edu	37	19	55697269	55697269	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:55697269C>G	ENST00000376350.3	-	17	2884	c.2862G>C	c.(2860-2862)gtG>gtC	p.V954V	PTPRH_ENST00000263434.5_Silent_p.V776V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	954	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V954V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGTTCTCCATCACTTCCTCAC	0.632000													52	183					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456310	82456310	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:82456310C>G	ENST00000370728.1	+	25	4506	c.3861C>G	c.(3859-3861)gtC>gtG	p.V1287V	LPHN2_ENST00000271029.4_Silent_p.V1259V|LPHN2_ENST00000370730.1_Silent_p.V1244V|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.V1302V|LPHN2_ENST00000394879.1_Silent_p.V1289V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Silent_p.V1231V|LPHN2_ENST00000370723.1_Silent_p.V1289V|LPHN2_ENST00000370721.1_Silent_p.V1212V|LPHN2_ENST00000359929.3_Silent_p.V1231V|LPHN2_ENST00000335786.5_Silent_p.V1244V|LPHN2_ENST00000370727.1_Silent_p.V1259V|LPHN2_ENST00000370725.1_Silent_p.V1302V			O95490	LPHN2_HUMAN	latrophilin 2	1287					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.V1231V(1)|p.V1302V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTACCAGTCAAACCTGTGA	0.468000													11	184					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55525859	55525859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:55525859G>T	ENST00000219070.4	+	8	1836	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	MMP2_ENST00000437642.2_Nonsense_Mutation_p.E393*|MMP2_ENST00000570308.1_Nonsense_Mutation_p.E367*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.E367*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	443	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.E443*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	GGGCATTCAGGAGCTCTATGG	0.627000													6	61					0.00621372	0.00650784	1	1	0
DCAF16	54876	broad.mit.edu	37	4	17805188	17805188	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:17805188C>G	ENST00000382247.1	-	3	1637	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	DCAF16_ENST00000536863.1_Missense_Mutation_p.E193Q	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	193						CUL4 RING ubiquitin ligase complex		p.E193Q(1)		cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTGATGGGTTCAGTACGAGTT	0.408000													40	194					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103474106	103474106	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103474106G>C	ENST00000424685.2	-	3	510	c.351C>G	c.(349-351)gaC>gaG	p.D117E	RELN_ENST00000343529.5_Missense_Mutation_p.D117E|RELN_ENST00000428762.1_Missense_Mutation_p.D117E			P78509	RELN_HUMAN	reelin	117	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAACTGGTGGTCAGACATGA	0.443000													5	52					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21157610	21157610	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:21157610T>A	ENST00000255882.6	-	13	1548		c.e13-2		PI4KA_ENST00000572273.1_Splice_Site	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha						phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.?(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCCCAAACCCTGCAACACACC	0.597000													20	166					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603176	13603176	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:13603176T>C	ENST00000040738.5	-	10	5483	c.5348A>G	c.(5347-5349)gAt>gGt	p.D1783G		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1783							DNA binding	p.D1783G(1)									TTCTGTACCATCATTCACAGA	0.527000													38	487					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60241759	60241759	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:60241759A>G	ENST00000269499.5	+	13	2863	c.2445A>G	c.(2443-2445)ctA>ctG	p.L815L	ZCCHC2_ENST00000586834.1_Silent_p.L494L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	815					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.L815L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCAGAGGCTAAAGTTGCCAC	0.498000													23	166					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220399952	220399952	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220399952C>A	ENST00000358078.4	+	6	1530	c.1516C>A	c.(1516-1518)Cgc>Agc	p.R506S	ASIC4_ENST00000347842.3_Missense_Mutation_p.R487S			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	487						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.R506S(1)									CAACCTGACACGCTATGGGAA	0.602000													7	64					0.000157383	0.000176097	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141660594	141660594	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141660594G>T	ENST00000389484.3	-	23	4632	c.3661C>A	c.(3661-3663)Cat>Aat	p.H1221N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1221					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.H1221N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACTTTAGATGATTGCTACAA	0.418000										TSP Lung(27;0.18)			21	133					1.9806e-07	2.54146e-07	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220418377	220418377	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220418377G>T	ENST00000404537.1	-	16	4964	c.4908C>A	c.(4906-4908)caC>caA	p.H1636Q	OBSL1_ENST00000373876.1_Missense_Mutation_p.H1544Q|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1636	Ig-like 13.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.H1636Q(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCTCTAGGTCGTGTGGCCCCC	0.627000											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	57					0.000157383	0.000176097	1	1	0
ANO3	63982	broad.mit.edu	37	11	26552826	26552826	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:26552826C>G	ENST00000256737.3	+	8	1664	c.812C>G	c.(811-813)cCa>cGa	p.P271R	ANO3_ENST00000531568.1_Missense_Mutation_p.P125R|ANO3_ENST00000537978.1_Missense_Mutation_p.P255R|ANO3_ENST00000525139.1_Missense_Mutation_p.P255R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	271						chloride channel complex	chloride channel activity	p.P271R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCAGCTTTTCCAGACCTAGAG	0.438000													18	206					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84733612	84733612	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:84733612C>A	ENST00000372142.2	+	8	964	c.690C>A	c.(688-690)ccC>ccA	p.P230P	NRG3_ENST00000556918.1_Silent_p.P281P|NRG3_ENST00000404547.1_Silent_p.P451P|NRG3_ENST00000404576.2_Silent_p.P255P|NRG3_ENST00000372141.2_Silent_p.P451P|NRG3_ENST00000537893.1_Silent_p.P101P|NRG3_ENST00000545131.1_Silent_p.P101P	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	451	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.P230P(1)|p.P451P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTGTCGGCCCCCAGTCATTCC	0.507000													33	66					2.46105e-21	4.5378e-21	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54914548	54914548	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:54914548G>T	ENST00000545554.1	+	30	6130	c.6130G>T	c.(6130-6132)Ggt>Tgt	p.G2044C	UNC13C_ENST00000260323.11_Missense_Mutation_p.G2044C|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2042C|UNC13C_ENST00000539562.2_5'UTR			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2044					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.G2044C(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATGCCGTGGGTCAGATATC	0.413000													17	145					7.21436e-19	1.28395e-18	1	1	0
ACSM2A	123876	broad.mit.edu	37	16	20471598	20471598	+	Missense_Mutation	SNP	G	G	T	rs147663018		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20471598G>T	ENST00000573854.1	+	2	276	c.162G>T	c.(160-162)tgG>tgT	p.W54C	ACSM2A_ENST00000424070.1_Missense_Mutation_p.W54C|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000396104.2_Missense_Mutation_p.W54C|ACSM2A_ENST00000575690.1_Missense_Mutation_p.W54C|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000219054.6_Missense_Mutation_p.W54C	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	54					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.W54C(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGATCACTGGGCTGACATGG	0.433000													11	52					4.3838e-07	5.52985e-07	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119770459	119770459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:119770459G>T	ENST00000313400.4	-	7	1603	c.1503C>A	c.(1501-1503)taC>taA	p.Y501*	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Y450*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Y501*			O75129	ASTN2_HUMAN	astrotactin 2	501						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATTGATCTGGTAATACAGGG	0.567000													16	94					5.01169e-05	5.73299e-05	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102483357	102483357	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:102483357G>C	ENST00000369138.1	+	14	2717	c.2227G>C	c.(2227-2229)Gag>Cag	p.E743Q	GRIK2_ENST00000369134.4_Missense_Mutation_p.E694Q|GRIK2_ENST00000421544.1_Missense_Mutation_p.E743Q|GRIK2_ENST00000413795.1_Missense_Mutation_p.E743Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.E667Q|GRIK2_ENST00000318991.6_Missense_Mutation_p.E743Q	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	743					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E743Q(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AACAACCATCGAGTTTGTTAC	0.473000													43	436					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904794	55904794	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55904794A>G	ENST00000301529.1	-	1	400	c.401T>C	c.(400-402)gTg>gCg	p.V134A		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V134A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGACACCACCACCATGTAGAG	0.498000													16	205					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3669282	3669282	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:3669282G>T	ENST00000294600.2	+	1	321	c.237G>T	c.(235-237)cgG>cgT	p.R79R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	79								p.R79R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGGACGCCCGGTGCCCAGAAT	0.632000													30	101					3.69857e-22	6.88158e-22	1	1	0
ABCA2	20	broad.mit.edu	37	9	139908809	139908809	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139908809C>A	ENST00000265662.5	-	27	4198	c.4051G>T	c.(4051-4053)Gcg>Tcg	p.A1351S	ABCA2_ENST00000371605.3_Missense_Mutation_p.A1350S|ABCA2_ENST00000341511.6_Missense_Mutation_p.A1351S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1350					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCCCAGACGCCGGGCCCTCC	0.687000													4	25					0.00909568	0.00946969	1	1	0
FLG	2312	broad.mit.edu	37	1	152282354	152282354	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:152282354G>T	ENST00000368799.1	-	3	5043	c.5008C>A	c.(5008-5010)Cag>Aag	p.Q1670K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1670	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q1670K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGTTCCTGGGATGATGCA	0.557000									Ichthyosis				590	769					1.01018e-176	2.16871e-176	1	1	0
CROCC	9696	broad.mit.edu	37	1	17257066	17257066	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:17257066G>T	ENST00000375541.5	+	7	895	c.826G>T	c.(826-828)Gcg>Tcg	p.A276S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	276					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCACCGGGAGGCGGCGTGGAG	0.662000													7	67					2.17888e-05	2.53377e-05	1	1	0
ZNF185	7739	broad.mit.edu	37	X	152083041	152083041	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:152083041T>G	ENST00000535861.1	+	1	56	c.8T>G	c.(7-9)aTc>aGc	p.I3S	ZNF185_ENST00000449285.2_Missense_Mutation_p.I3S|ZNF185_ENST00000318504.7_Missense_Mutation_p.I3S|ZNF185_ENST00000370268.4_Missense_Mutation_p.I3S|ZNF185_ENST00000539731.1_Missense_Mutation_p.I3S|ZNF185_ENST00000324823.6_De_novo_Start_InFrame	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	3						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	p.I3S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGAGTATCTCAGCTCTT	0.547000													4	8					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377564	125377564	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:125377564C>T	ENST00000297913.2	+	1	617	c.548C>T	c.(547-549)gCt>gTt	p.A183V	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A183F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GACCTCTACGCTCTGATGAAG	0.493000													22	165					0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127611311	127611311	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:127611311G>C	ENST00000531967.1	-	6	1130	c.627C>G	c.(625-627)ctC>ctG	p.L209L	ECHDC1_ENST00000309620.9_Silent_p.L186L|ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454591.2_Silent_p.L128L|ECHDC1_ENST00000430841.2_Silent_p.L203L|ECHDC1_ENST00000454859.3_Silent_p.L203L|ECHDC1_ENST00000474289.2_Silent_p.L203L	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	209							catalytic activity	p.L209L(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TCAACACTTTGAGAGCTTGTC	0.438000													14	167					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477887	179477887	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179477887C>A	ENST00000589042.1	-	264	49873		c.e264+1		TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAAATAATACCTATGGGATC	0.348000													5	61					0.000602214	0.00065735	1	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269762	150269762	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:150269762A>G	ENST00000255945.2	+	3	779	c.604A>G	c.(604-606)Agg>Ggg	p.R202G	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R216G	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	202							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGCCCAGAGGGCACAGTT	0.542000													6	184					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180114	124180114	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:124180114G>T	ENST00000357821.2	-	1	619	c.549C>A	c.(547-549)ccC>ccA	p.P183P		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GATTGAGGAGGGGAAGAACAT	0.458000													6	68					0.00116845	0.00125644	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101374853	101374853	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:101374853G>T	ENST00000344327.3	-	2	1271	c.847C>A	c.(847-849)Ccg>Acg	p.P283T	TRPC6_ENST00000360497.4_Missense_Mutation_p.P283T|TRPC6_ENST00000348423.4_Missense_Mutation_p.P283T|TRPC6_ENST00000532133.1_Missense_Mutation_p.P283T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	283					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.P283T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGGTAAGCCGGACTTGCCAGG	0.438000													83	277					3.04226e-33	6.19552e-33	1	1	0
GRM7	2917	broad.mit.edu	37	3	7456833	7456833	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:7456833C>A	ENST00000486284.1	+	5	1431	c.1157C>A	c.(1156-1158)aCa>aAa	p.T386K	GRM7_ENST00000403881.1_Missense_Mutation_p.T386K|GRM7_ENST00000389336.4_Missense_Mutation_p.T386K|GRM7_ENST00000357716.4_Missense_Mutation_p.T386K|GRM7_ENST00000402647.2_Missense_Mutation_p.T386K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	386					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.T386K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAAGAAGACACAGATCGCAAA	0.418000													30	104					2.61193e-14	4.23426e-14	1	1	0
ANKAR	150709	broad.mit.edu	37	2	190554279	190554279	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:190554279G>T	ENST00000520309.1	+	3	716	c.628G>T	c.(628-630)Gac>Tac	p.D210Y	ANKAR_ENST00000431575.2_Missense_Mutation_p.D139Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D210Y|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.D210Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	210						integral to membrane	binding	p.D139Y(1)|p.D210Y(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAAGGATCCAGACTTTAATGA	0.308000													32	141					2.08457e-15	3.48279e-15	1	1	0
NT5C1B	93034	broad.mit.edu	37	2	18745191	18745191	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:18745191G>A	ENST00000304081.4	-	9	1624	c.1524C>T	c.(1522-1524)gcC>gcT	p.A508A	NT5C1B_ENST00000359846.2_Silent_p.A568A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A568A|NT5C1B_ENST00000600945.1_Silent_p.A568A	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB									p.A568A(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GACTTTTGGGGGCTCCAGCAA	0.542000													36	178					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17257065	17257065	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:17257065G>T	ENST00000375541.5	+	7	894	c.825G>T	c.(823-825)gaG>gaT	p.E275D	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	275					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCACCGGGAGGCGGCGTGGA	0.662000													7	70					2.17888e-05	2.53377e-05	1	1	0
SPARC	6678	broad.mit.edu	37	5	151055721	151055721	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:151055721C>G	ENST00000231061.4	-	2	342	c.29G>C	c.(28-30)tGc>tCc	p.C10S		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	10					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CCCGGCCAGGCAAAGGAGAAA	0.532000													5	34					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101075759	101075759	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:101075759T>C	ENST00000360863.6	-	8	1431	c.1237A>G	c.(1237-1239)Aag>Gag	p.K413E	RGS22_ENST00000523437.1_Missense_Mutation_p.K401E|RGS22_ENST00000523287.1_Missense_Mutation_p.K232E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	413					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.K413E(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TCAAACTCCTTTCTATTGCCA	0.383000													23	242					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143232	49143232	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:49143232G>C	ENST00000055335.6	+	4	2096	c.2080G>C	c.(2080-2082)Gcc>Ccc	p.A694P	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A348P|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A365P|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A348P|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A348P	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	694						integral to membrane		p.A694P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGAGCCAGCCTCTCCCGT	0.617000													4	13					0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104821732	104821732	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:104821732C>A	ENST00000444739.2	-	4	1376	c.466G>T	c.(466-468)Gac>Tac	p.D156Y	CASP4_ENST00000393150.3_Missense_Mutation_p.D100Y|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	156					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.D156Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATGTCAAAGTCAGCTCCATTC	0.493000													33	141					1.56738e-10	2.2751e-10	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20448431	20448431	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20448431C>A	ENST00000331849.4	+	11	1513	c.1366C>A	c.(1366-1368)Cga>Aga	p.R456R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R456R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CACAGGGGACCGAGCTCGCAT	0.488000													11	213					1.58986e-06	1.94651e-06	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29640733	29640733	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29640733C>A	ENST00000318184.5	-	7	784	c.785G>T	c.(784-786)tGt>tTt	p.C262F		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	262	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.C262F(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ACCTCCAGCACAACCAGCTAC	0.458000													10	22					0.00621372	0.00650784	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64601143	64601143	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:64601143C>A	ENST00000498707.1	-	21	3385	c.3043G>T	c.(3043-3045)Ggt>Tgt	p.G1015C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G987C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1015	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G1015C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGGTCCCACCGTCACAGCTT	0.403000													25	69					2.65835e-16	4.5214e-16	1	1	0
CFH	3075	broad.mit.edu	37	1	196654312	196654312	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:196654312G>T	ENST00000367429.4	+	7	1149	c.909G>T	c.(907-909)cgG>cgT	p.R303R	CFH_ENST00000359637.2_Silent_p.R239R|CFH_ENST00000439155.2_Silent_p.R303R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	303	Sushi 5.				complement activation, alternative pathway	extracellular space		p.R303R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGCAACCCGGGGAAATACAG	0.393000													51	195					3.68337e-26	7.11192e-26	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49951281	49951281	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49951281G>A	ENST00000257981.6	+	15	3057	c.2797G>A	c.(2797-2799)Ggg>Agg	p.G933R		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	933					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.G933R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CAGCACCTCCGGGCTTCTGCA	0.687000													17	66					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779327	36779327	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:36779327C>A	ENST00000416516.2	-	2	1314	c.824G>T	c.(823-825)tGg>tTg	p.W275L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	275						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.W275L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCAGGAGCCAGCCACCATG	0.577000													50	178					7.05377e-20	1.28136e-19	1	1	0
TTN	7273	broad.mit.edu	37	2	179468758	179468758	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179468758G>T	ENST00000589042.1	-	282	54880	c.54656C>A	c.(54655-54657)gCa>gAa	p.A18219E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A9279E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A9154E|TTN_ENST00000342175.6_Missense_Mutation_p.A9346E|TTN_ENST00000591111.1_Missense_Mutation_p.A16578E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A15651E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16578	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A15651E(2)|p.A9279E(1)|p.A9346E(1)|p.A9154E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTATTGGTGCTCGGCTAAC	0.468000													57	614					1.3268e-25	2.5478e-25	1	1	0
ENPP7	339221	broad.mit.edu	37	17	77709058	77709058	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:77709058G>T	ENST00000328313.5	+	3	837	c.616G>T	c.(616-618)Ggc>Tgc	p.G206C		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	206					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACAGGTACGGCCCCGAGTC	0.657000													5	112					1.23904e-05	1.45532e-05	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20344996	20344996	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20344996G>C	ENST00000298642.2	+	1	606	c.570G>C	c.(568-570)gtG>gtC	p.V190V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V190V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCTTGTGTGGATACTTATG	0.408000													61	581					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27008146	27008146	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:27008146G>A	ENST00000215939.2	-	3	319	c.189C>T	c.(187-189)gtC>gtT	p.V63V		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	63	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens	p.V63V(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCAGTTCGAAGACCACCAGCT	0.532000													8	111					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432250	20432250	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:20432250C>T	ENST00000377252.3	+	5	1409	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.H141Y	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	190						integral to membrane		p.H190Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGAAGTCGTACATCGAATGCT	0.328000													21	282					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25331660	25331660	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25331660C>T	ENST00000546682.1	+	0	453				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TTTGCAGGGACAAACACTGTG	0.443000													59	200					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114244917	114244917	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:114244917G>T	ENST00000506722.1	+	28	3035	c.2840G>T	c.(2839-2841)cGc>cTc	p.R947L	ANK2_ENST00000264366.6_Intron|ANK2_ENST00000357077.4_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001127493.1	NP_001120965.1	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	967					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)		TGTTGCAGCCGCGCCTCTCCA	0.423000													11	41					0.00010058	0.000113314	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31325263	31325263	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:31325263A>T	ENST00000269197.5	+	12	5451	c.5451A>T	c.(5449-5451)ccA>ccT	p.P1817P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P1817P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCTGGCACCACTCCAAATGA	0.478000													50	357					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167833809	167833809	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:167833809G>C	ENST00000357154.3	-	6	582	c.445C>G	c.(445-447)Cct>Gct	p.P149A	SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_Missense_Mutation_p.P29A|SPOCK3_ENST00000535728.1_Missense_Mutation_p.P57A|SPOCK3_ENST00000502330.1_Missense_Mutation_p.P149A|SPOCK3_ENST00000534949.1_Missense_Mutation_p.P53A|SPOCK3_ENST00000511269.1_Missense_Mutation_p.P146A|SPOCK3_ENST00000510741.1_Missense_Mutation_p.P146A|SPOCK3_ENST00000357545.4_Missense_Mutation_p.P146A|SPOCK3_ENST00000421836.2_Missense_Mutation_p.P98A|SPOCK3_ENST00000512648.1_Missense_Mutation_p.P146A|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000506886.1_Missense_Mutation_p.P149A|SPOCK3_ENST00000511531.1_Missense_Mutation_p.P149A|SPOCK3_ENST00000504953.1_Missense_Mutation_p.P146A	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	149	Kazal-like.				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)		CCACAAACAGGGCTGGGATAG	0.413000													11	74					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112723879	112723879	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:112723879G>T	ENST00000501255.2	-	3	1521	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	GPR85_ENST00000449591.1_Missense_Mutation_p.P300T|GPR85_ENST00000424100.1_Missense_Mutation_p.P300T|GPR85_ENST00000297146.2_Missense_Mutation_p.P300T	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	300						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P300T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458000													24	121					3.5997e-14	5.81636e-14	1	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267882	103267882	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:103267882G>T	ENST00000217926.5	-	1	377	c.351C>A	c.(349-351)atC>atA	p.I117I		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	117					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CCTCGGTGGCGATGCGGTCCA	0.642000													4	43					0.150653	0.152642	1	1	0
TENM4	26011	broad.mit.edu	37	11	78437147	78437147	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:78437147T>A	ENST00000278550.7	-	23	3989	c.3527A>T	c.(3526-3528)cAt>cTt	p.H1176L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.H1176L(2)									GAGGGCATGATGTTTGTCTAG	0.468000													132	518					0	0	1	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927735	92927735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:92927735C>A	ENST00000373079.3	-	1	832	c.569G>T	c.(568-570)gGt>gTt	p.G190V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	190	Glu-rich.				nucleosome assembly	chromatin assembly complex		p.G190V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTCTTCCTCACCCTCTAAGGG	0.443000													44	89					1.48734e-19	2.68201e-19	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78350088	78350088	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78350088C>A	ENST00000255189.3	-	4	487	c.459G>T	c.(457-459)cgG>cgT	p.R153R	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	153					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.R153R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCAGCCAGTCCGAGTCATTT	0.403000													22	81					7.92952e-12	1.19625e-11	1	1	0
ELAVL4	1996	broad.mit.edu	37	1	50642799	50642799	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:50642799C>A	ENST00000371824.1	+	3	546	c.289C>A	c.(289-291)Cca>Aca	p.P97T	ELAVL4_ENST00000371821.1_Missense_Mutation_p.P102T|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P102T|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P97T|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P114T|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P100T|ELAVL4_ENST00000371823.4_Missense_Mutation_p.P97T|ELAVL4_ENST00000492299.1_3'UTR			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	97	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.P97A(1)|p.P114A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTATATTGATCCAAAGGATGC	0.418000													4	99					0.217242	0.218667	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94058582	94058582	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:94058582C>A	ENST00000297268.6	+	51	4265	c.3794C>A	c.(3793-3795)tCt>tAt	p.S1265Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1265	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AACTATGCCTCTCAGAACATC	0.448000										HNSCC(75;0.22)			12	73					2.68362e-12	4.12193e-12	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43953436	43953436	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:43953436G>C	ENST00000282406.4	+	17	2677	c.2567G>C	c.(2566-2568)tGg>tCg	p.W856S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	856	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding	p.W856S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATCAAACTCTGGGAGGCTAAA	0.353000													7	82					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													5	161					0	0	1	0	0
SHH	6469	broad.mit.edu	37	7	155596253	155596253	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:155596253G>A	ENST00000297261.2	-	3	880	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	244					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	p.R244C(1)		central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGTCGTCGCGGTCCAGGAAA	0.697000													6	28					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48711843	48711843	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:48711843C>A	ENST00000314191.2	-	73	10278	c.10222G>T	c.(10222-10224)Gtg>Ttg	p.V3408L	PRKDC_ENST00000338368.3_Missense_Mutation_p.V3408L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3409	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V3409L(1)|p.V3408L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCATCAATCACCCCAGCTGCA	0.547000								Non-homologous end-joining					15	197					7.93312e-07	9.82539e-07	1	1	0
DPYS	1807	broad.mit.edu	37	8	105441800	105441800	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:105441800G>T	ENST00000351513.2	-	5	1055	c.923C>A	c.(922-924)cCc>cAc	p.P308H		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	308					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.P308H(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGGAAGTCGGGTGTTGAGGG	0.507000													16	127					2.35188e-11	3.50286e-11	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247921038	247921038	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247921038G>T	ENST00000408896.2	-	1	944	c.671C>A	c.(670-672)aCt>aAt	p.T224N		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224N(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTTCAGAACAGTGGAGAAGAT	0.498000													8	85					5.18039e-06	6.22154e-06	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861565	55861565	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55861565C>A	ENST00000302124.2	+	1	813	c.782C>A	c.(781-783)cCt>cAt	p.P261H	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TATTTGCAACCTGATAACACA	0.488000													15	208					6.31663e-08	8.22568e-08	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131866288	131866288	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:131866288G>T	ENST00000359827.3	-	18	4306	c.3344C>A	c.(3343-3345)cCc>cAc	p.P1115H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1115H			Q9HCM2	PLXA4_HUMAN	plexin A4	1115	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane		p.P1115Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAACTCCTCGGGCCTCTCGGT	0.577000													34	142					3.03874e-20	5.53646e-20	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681905	55681905	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55681905C>A	ENST00000344514.1	-	1	153	c.154G>T	c.(154-156)Gat>Tat	p.D52Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTTGGTAATCCATTCTGATT	0.383000													27	87					1.04121e-07	1.35159e-07	1	1	0
ERMN	57471	broad.mit.edu	37	2	158181266	158181266	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:158181266C>G	ENST00000410096.1	-	2	541	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	ERMN_ENST00000420719.2_Intron|ERMN_ENST00000397283.2_Missense_Mutation_p.E97Q|ERMN_ENST00000535935.1_5'UTR|ERMN_ENST00000409216.1_Missense_Mutation_p.E84Q|ERMN_ENST00000409925.1_Missense_Mutation_p.E84Q	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	84						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AGTTTCTCTTCTGGGTTTTCT	0.289000													12	54					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39435606	39435606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:39435606G>T	ENST00000280481.7	+	15	7774	c.7558G>T	c.(7558-7560)Gag>Tag	p.E2520*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2520					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E2520*(1)		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)		TGTTGGAGCAGAGCCGTTCTC	0.438000													24	108					1.64293e-13	2.61506e-13	1	1	0
BRCA1	672	broad.mit.edu	37	17	41246314	41246314	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:41246314C>A	ENST00000309486.4	-	9	1373	c.346G>T	c.(346-348)Gta>Tta	p.V116L	BRCA1_ENST00000471181.2_Missense_Mutation_p.V412L|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.V412L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.V412L|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.V412L|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V365L|BRCA1_ENST00000468300.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	412					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.V412L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACGTCCAATACATCAGCTACT	0.383000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			11	234					1.5842e-08	2.10769e-08	1	1	0
ANO4	121601	broad.mit.edu	37	12	101336246	101336246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:101336246C>A	ENST00000392979.3	+	4	645	c.284C>A	c.(283-285)cCc>cAc	p.P95H	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.P296H|ANO4_ENST00000392977.3_Missense_Mutation_p.P130H	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	130						chloride channel complex	chloride channel activity	p.P95H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAATCCAACCCCCAGACTGAA	0.368000										HNSCC(74;0.22)			16	225					1.67942e-08	2.22954e-08	1	1	0
ACOX3	8310	broad.mit.edu	37	4	8418141	8418141	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:8418141C>T	ENST00000356406.5	-	2	185	c.108G>A	c.(106-108)gcG>gcA	p.A36A	ACOX3_ENST00000503233.1_Silent_p.A36A|ACOX3_ENST00000413009.2_Silent_p.A36A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	36					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.A36A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CCGTGAACAGCGCCAGCTCCT	0.597000													48	205					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890547	23890547	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:23890547C>A	ENST00000532292.1	-	1	628	c.534G>T	c.(532-534)gaG>gaT	p.E178D		NM_019066.4	NP_061939.3			MAGE-like 2									p.E178D(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAGCAAAGGTCTCCGGTGTGG	0.587000													18	83					3.62473e-10	5.15182e-10	1	1	0
HAUS1	115106	broad.mit.edu	37	18	43698210	43698210	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:43698210C>T	ENST00000282058.6	+	3	349	c.269C>T	c.(268-270)aCt>aTt	p.T90I	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	90					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		p.T90I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTCTCTAGCACTGGTTCCAGG	0.433000													22	187					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16338502	16338502	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:16338502G>T	ENST00000291439.3	+	7	1265		c.e7+1		AP1M1_ENST00000541844.1_Splice_Site|AP1M1_ENST00000429941.2_Splice_Site|AP1M1_ENST00000444449.2_Splice_Site|AP1M1_ENST00000590756.1_Splice_Site	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit						cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CAACACCCACGTGAGTGCGCC	0.657000													57	375					1.08141e-31	2.17699e-31	1	1	0
LY6G6D	58530	broad.mit.edu	37	6	31675821	31675821	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31675821G>T	ENST00000503322.1	+	3	559	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	LY6G6F_ENST00000556581.1_Missense_Mutation_p.G186W|LY6G6F_ENST00000375832.4_Missense_Mutation_p.G186W|XXbac-BPG32J3.20_ENST00000461287.1_Intron														p.G186W(1)									GGTGTGTCCTGGGGAGGGGCT	0.597000													33	325					1.36161e-19	2.46254e-19	1	1	0
CNST	163882	broad.mit.edu	37	1	246811284	246811284	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:246811284C>T	ENST00000366513.4	+	9	2050	c.1781C>T	c.(1780-1782)tCt>tTt	p.S594F	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S594F	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	594					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.S594F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AATCTGCCTTCTGATGAGAGC	0.403000													24	242					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21191656	21191656	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:21191656C>G	ENST00000602326.1	-	19	3155	c.2572G>C	c.(2572-2574)Gat>Cat	p.D858H	EIF4G3_ENST00000536266.1_Missense_Mutation_p.D456H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D858H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D852H|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D852H|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D572H|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D342H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	852	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.D858H(1)|p.D858Y(1)|p.D852H(1)|p.D852Y(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGACATCATCATCTGCTTTA	0.428000													9	173					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													15	120					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701293	56701293	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:56701293T>A	ENST00000586855.2	-	5	1704	c.1391A>T	c.(1390-1392)gAg>gTg	p.E464V	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E464V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	464					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E464V(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTAGGGCTTCTCTCCGGAGTG	0.537000													8	78					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860889	52860889	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:52860889T>G	ENST00000343457.3	-	4	2305	c.2299A>C	c.(2299-2301)Aag>Cag	p.K767Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	767						integral to membrane		p.K767Q(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGATTCTTGCATTTCCCT	0.463000													10	131					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21235298	21235298	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:21235298A>T	ENST00000233242.1	-	26	4569	c.4442T>A	c.(4441-4443)gTc>gAc	p.V1481D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1481					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.V1481D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACTTCTTTGACAAACAAATG	0.443000													32	96					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22436933	22436933	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:22436933C>A	ENST00000334304.5	-	10	1713		c.e10+1		GPR125_ENST00000282943.5_Splice_Site|GPR125_ENST00000508133.1_Splice_Site|GPR125_ENST00000502482.1_Splice_Site	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125						neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.?(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGAGAAGTACCTCTTTTGAT	0.328000													18	110					3.99206e-14	6.42075e-14	1	1	0
PPP3R2	5535	broad.mit.edu	37	9	104357038	104357038	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:104357038G>T	ENST00000374806.1	-	1	245	c.175C>A	c.(175-177)Cgg>Agg	p.R59R	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	56	EF-hand 2.						calcium ion binding	p.R59R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	ATCACTCGCCGCACCAACGGG	0.582000													26	155					6.36457e-07	7.97927e-07	1	1	0
PEG3	5178	broad.mit.edu	37	19	57333091	57333091	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:57333091C>A	ENST00000326441.9	-	7	960	c.597G>T	c.(595-597)gtG>gtT	p.V199V	ZIM2_ENST00000593711.1_Silent_p.V74V|ZIM2_ENST00000601070.1_Silent_p.V74V|ZIM2_ENST00000599935.1_Silent_p.V74V|PEG3_ENST00000423103.2_Silent_p.V199V|ZIM2_ENST00000221722.5_Silent_p.V74V|PEG3_ENST00000593695.1_Silent_p.V73V|ZIM2_ENST00000391708.3_Silent_p.V74V|PEG3_ENST00000598410.1_Silent_p.V74V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	199					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V199V(2)|p.V74V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTCGCCACCACAGGAAGGG	0.537000													30	346					2.81731e-10	4.02989e-10	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38627390	38627390	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:38627390A>G	ENST00000413689.1	-	16	2772	c.2579T>C	c.(2578-2580)cTc>cCc	p.L860P	SCN5A_ENST00000449557.2_Missense_Mutation_p.L860P|SCN5A_ENST00000443581.1_Missense_Mutation_p.L860P|SCN5A_ENST00000455624.2_Missense_Mutation_p.L860P|SCN5A_ENST00000425664.1_Missense_Mutation_p.L860P|SCN5A_ENST00000414099.2_Missense_Mutation_p.L860P|SCN5A_ENST00000451551.2_Missense_Mutation_p.L860P|SCN5A_ENST00000333535.4_Missense_Mutation_p.L860P|SCN5A_ENST00000450102.2_Missense_Mutation_p.L860P|SCN5A_ENST00000423572.2_Missense_Mutation_p.L860P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	860					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.L860P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGCCAAAGAGCTGCATGCC	0.552000													32	225					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732741	50732741	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50732741C>T	ENST00000355832.5	-	5	813	c.735G>A	c.(733-735)atG>atA	p.M245I	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.M245I|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.M245I|PGBD3_ENST00000603152.1_Missense_Mutation_p.M245I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	245					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAAAAGGTGTCATCTGGCCAG	0.498000								Direct reversal of damage;Nucleotide excision repair (NER)					14	237					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906938	139906938	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139906938T>A	ENST00000265662.5	-	32	5333	c.5187_splice	c.e32+1	p.Q1729_splice	ABCA2_ENST00000371605.3_Splice_Site_p.Q1728_splice|ABCA2_ENST00000341511.6_Splice_Site_p.Q1729_splice			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1728					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1729L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTCGCTCACCTGGGCAGCCCT	0.672000													10	110					0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703497	44703497	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:44703497A>G	ENST00000339042.4	+	1	249	c.119A>G	c.(118-120)aAa>aGa	p.K40R		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	40	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.K40R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						GCCAACGACAAACTCCTTCTG	0.502000													53	68					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124467351	124467351	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:124467351T>A	ENST00000357628.3	-	17	2201	c.1603A>T	c.(1603-1605)Att>Ttt	p.I535F	POT1_ENST00000393329.1_Missense_Mutation_p.I404F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	535					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.I535F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AGGGGTACAATACCCAGTGCT	0.353000													6	40					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91423004	91423004	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:91423004G>T	ENST00000268171.3	+	11	1537	c.1258_splice	c.e11+1	p.V420_splice		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	420					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.V420L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGGCCGGAAAGGTGAGGGCAG	0.617000													33	140					1.22384e-17	2.14084e-17	1	1	0
HDAC4	9759	broad.mit.edu	37	2	240056263	240056263	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:240056263G>A	ENST00000345617.3	-	10	1846	c.1055C>T	c.(1054-1056)cCc>cTc	p.P352L	HDAC4_ENST00000541256.1_Missense_Mutation_p.P321L|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	352					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.P352L(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTGATGTTGGGCAAGGATGG	0.647000													8	99					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													17	149					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94618082	94618082	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:94618082C>T	ENST00000258526.4	+	7	2030	c.1781C>T	c.(1780-1782)tCa>tTa	p.S594L		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	594					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.S594L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTGCTCATCATTAAAAGAG	0.348000													27	150					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54125016	54125016	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:54125016T>A	ENST00000404125.1	-	31	3652	c.3597A>T	c.(3595-3597)gtA>gtT	p.V1199V	PSME4_ENST00000421748.2_Silent_p.V343V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1199					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.V1085V(1)|p.V1199V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTTTCGAACTACAATTGCAT	0.418000													58	173					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83333186	83333186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:83333186C>A	ENST00000261722.3	-	18	2344	c.2137G>T	c.(2137-2139)Gag>Tag	p.E713*	AP3B2_ENST00000535359.1_Nonsense_Mutation_p.E732*|AP3B2_ENST00000535348.1_Nonsense_Mutation_p.E681*|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	713	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTGCTGGACTCCCCAGAGCCG	0.567000													5	74					3.59834e-05	4.14518e-05	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108618378	108618378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:108618378C>A	ENST00000264047.2	+	6	899	c.623C>A	c.(622-624)tCa>tAa	p.S208*	SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.S103*|SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.S208*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	208					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.S208*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGCATTGTCACATCCTGCA	0.493000													34	140					4.3949e-29	8.7329e-29	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123625061	123625061	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:123625061G>C	ENST00000327930.2	-	1	192	c.166C>G	c.(166-168)Cca>Gca	p.P56A		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P56A(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGTACATTGGAATTTGTAGC	0.433000													25	153					0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197393	39197393	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39197393T>C	ENST00000306271.4	-	1	320	c.257A>G	c.(256-258)tAc>tGc	p.Y86C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	86			Missing (in allele KAP1.7).			extracellular region|keratin filament		p.Y86C(4)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGTAGCAGCTTGG	0.587000													5	208					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161987227	161987227	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:161987227G>T	ENST00000294794.3	-	3	932	c.509C>A	c.(508-510)aCc>aAc	p.T170N	OLFML2B_ENST00000367940.2_Missense_Mutation_p.T170N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	170								p.T170N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAGTTTGGTGGTGACTGAATG	0.463000													27	270					8.88839e-20	1.61106e-19	1	1	0
FRYL	285527	broad.mit.edu	37	4	48621362	48621362	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:48621362A>G	ENST00000537810.1	-	7	944	c.340T>C	c.(340-342)Tat>Cat	p.Y114H	FRYL_ENST00000358350.4_Missense_Mutation_p.Y114H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.Y114H|FRYL_ENST00000507711.1_Missense_Mutation_p.Y114H			O94915	FRYL_HUMAN	FRY-like	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.Y114H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAAGAAGATAATCTCTTTCA	0.333000													13	88					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14851592	14851592	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:14851592C>A	ENST00000380881.4	-	7	1660	c.845G>T	c.(844-846)tGg>tTg	p.W282L	FREM1_ENST00000422223.2_Missense_Mutation_p.W281L|FREM1_ENST00000380880.3_Missense_Mutation_p.W281L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	281					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.W282L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GACAGGCAGCCACGCACTCTC	0.403000													57	150					9.53978e-28	1.86989e-27	1	1	0
BMPER	168667	broad.mit.edu	37	7	33945247	33945247	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:33945247G>A	ENST00000297161.2	+	2	396	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	BMPER_ENST00000426693.1_Missense_Mutation_p.G8R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	8					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.G8R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCCGGCGTCGGGGCTCTGGC	0.652000													25	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179479056	179479056	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179479056A>T	ENST00000589042.1	-	262	49292	c.49068T>A	c.(49066-49068)gcT>gcA	p.A16356A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A7416A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.A7291A|TTN_ENST00000342175.6_Silent_p.A7483A|TTN_ENST00000591111.1_Silent_p.A14715A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.A13788A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14715	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A13788A(2)|p.A7416A(1)|p.A7483A(1)|p.A7291A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCAAAGGCAGCTGGTGGTC	0.383000													22	116					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761452	55761452	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55761452G>T	ENST00000278409.1	-	1	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTAGGAGTAGGAGGAGAGGAT	0.468000													11	93					0.000673444	0.000730879	1	1	0
MAGEC3	139081	broad.mit.edu	37	X	140967167	140967167	+	Silent	SNP	C	C	A	rs72410991		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:140967167C>A	ENST00000298296.1	+	3	465	c.465C>A	c.(463-465)tcC>tcA	p.S155S		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	155			S -> P (in dbSNP:rs11095909).					p.S155S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTTTCCCTTCCTGCCG	0.572000													3	7					1.23904e-05	1.45532e-05	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247588039	247588039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:247588039C>A	ENST00000366497.2	+	4	2074	c.1294C>A	c.(1294-1296)Ctt>Att	p.L432I	NLRP3_ENST00000336119.3_Missense_Mutation_p.L432I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L432I|NLRP3_ENST00000366496.2_Missense_Mutation_p.L432I|NLRP3_ENST00000348069.2_Missense_Mutation_p.L432I|NLRP3_ENST00000391827.2_Missense_Mutation_p.L432I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	432	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L432I(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCAAGAGCCTTGCCCAGAC	0.597000													45	157					4.00472e-15	6.64567e-15	1	1	0
TTC21B	79809	broad.mit.edu	37	2	166786229	166786229	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:166786229C>A	ENST00000243344.7	-	10	1253	c.1116G>T	c.(1114-1116)ggG>ggT	p.G372G		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	372						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCTGTAATTGCCCTTCTATCA	0.373000													10	91					2.74318e-10	3.93531e-10	1	1	0
KCNG3	170850	broad.mit.edu	37	2	42671100	42671100	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:42671100T>A	ENST00000306078.1	-	2	1880	c.1285A>T	c.(1285-1287)Agc>Tgc	p.S429C	KCNG3_ENST00000394973.4_Missense_Mutation_p.S418C	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	429						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	p.S429C(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GTGGAGAGGCTCCTACTATAC	0.368000													22	140					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30303583	30303583	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:30303583C>A	ENST00000361371.4	-	29	5282	c.5132G>T	c.(5131-5133)gGt>gTt	p.G1711V	LTN1_ENST00000389194.2_Missense_Mutation_p.G1757V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1711							ligase activity|zinc ion binding	p.G1711V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATCTTCAACACCCTCAAAACG	0.363000													15	104					7.93312e-07	9.82539e-07	1	1	0
KDR	3791	broad.mit.edu	37	4	55968157	55968157	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:55968157G>A	ENST00000263923.4	-	15	2468	c.2173C>T	c.(2173-2175)Cgc>Tgc	p.R725C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	725	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R725C(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACTCTGCGGATAGTGAGG	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			17	150					0	0	1	0	0
RAD51D	5892	broad.mit.edu	37	17	33428230	33428230	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:33428230G>T	ENST00000345365.6	-	9	1148	c.893C>A	c.(892-894)tCt>tAt	p.S298Y	RAD51D_ENST00000335858.7_Missense_Mutation_p.S186Y|RAD51D_ENST00000460118.2_Missense_Mutation_p.S179Y|RAD51D_ENST00000590016.1_Missense_Mutation_p.S318Y|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.S139Y|RAD51D_ENST00000394589.4_Missense_Mutation_p.S298Y|RAD51D_ENST00000360276.3_Missense_Mutation_p.S253Y|RAD51D_ENST00000590380.1_5'UTR	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	298					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	p.S186Y(1)|p.S298Y(1)|p.S318Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGTCGGGAAGATTTGGCCAG	0.592000								Direct reversal of damage					62	257					1.88225e-35	3.862e-35	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35370074	35370074	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:35370074C>A	ENST00000373347.1	-	3	1179	c.911G>T	c.(910-912)cGc>cTc	p.R304L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R304L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	304					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.R304L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCCGCCCGAGCGCCCCTTGAA	0.657000													15	168					3.52763e-06	4.26162e-06	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117309680	117309680	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:117309680G>C	ENST00000321322.6	-	24	4345	c.4344C>G	c.(4342-4344)cgC>cgG	p.R1448R	DSCAML1_ENST00000527706.1_Silent_p.R1178R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1388	Fibronectin type-III 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGACAGTGAGGCGGGGCTGGT	0.642000													8	66					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52960871	52960871	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52960871C>A	ENST00000549343.1	-	10	1552	c.1514G>T	c.(1513-1515)aGc>aTc	p.S505I	KRT74_ENST00000305620.2_Missense_Mutation_p.S491I			Q7RTS7	K2C74_HUMAN	keratin 74	491	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTGCCAGAGCTGCCTGCCAC	0.657000													9	84					2.17888e-05	2.53377e-05	1	1	0
HRC	3270	broad.mit.edu	37	19	49657621	49657621	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:49657621C>T	ENST00000252825.4	-	1	1060	c.874G>A	c.(874-876)Gac>Aac	p.D292N	HRC_ENST00000595625.1_Missense_Mutation_p.D292N	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	292	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.D292N(1)		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)		TGGCTGGGGTCGCGATGATGG	0.517000													18	79					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190662	66190662	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:66190662C>A	ENST00000311034.2	+	5	943	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	256	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.P256H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGCTGCACCCCGAGGACCTG	0.557000													4	30					0.014758	0.0152742	1	1	0
DENND1A	57706	broad.mit.edu	37	9	126146038	126146038	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:126146038G>C	ENST00000373624.2	-	21	1933	c.1732C>G	c.(1732-1734)Ctg>Gtg	p.L578V	DENND1A_ENST00000394219.3_Missense_Mutation_p.L589V|DENND1A_ENST00000542603.1_Missense_Mutation_p.L363V|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	578						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.L578V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TCCATGTCCAGGTTGCTGAAG	0.622000													26	179					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141032110	141032110	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141032110C>T	ENST00000389484.3	-	85	13996	c.13025G>A	c.(13024-13026)aGt>aAt	p.S4342N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4342	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S4342N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTCAACACTTCCATCATC	0.408000										TSP Lung(27;0.18)			19	102					0	0	1	0	0
CXorf40A	91966	broad.mit.edu	37	X	148627288	148627288	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:148627288A>G	ENST00000441248.1	+	3	1699	c.112A>G	c.(112-114)Acc>Gcc	p.T38A	CXorf40A_ENST00000428236.1_Intron|CXorf40A_ENST00000450602.2_Missense_Mutation_p.T38A|CXorf40A_ENST00000359293.5_Missense_Mutation_p.T38A|CXorf40A_ENST00000423540.2_Missense_Mutation_p.T38A|CXorf40A_ENST00000393985.3_Missense_Mutation_p.T38A|CXorf40A_ENST00000423421.1_Missense_Mutation_p.T38A|CXorf40A_ENST00000422892.2_Missense_Mutation_p.T38A|CXorf40A_ENST00000514208.1_Missense_Mutation_p.T38A|CXorf40A_ENST00000434353.2_Missense_Mutation_p.T38A			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	38							protein binding	p.T38A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCGGAACTGTACCATCGCCGT	0.592000													8	82					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40678594	40678594	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:40678594C>A	ENST00000416151.2	+	3	451	c.336C>A	c.(334-336)ctC>ctA	p.L112L	KNSTRN_ENST00000448395.2_Silent_p.L112L|KNSTRN_ENST00000249776.8_Silent_p.L112L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein									p.L112L(1)									CTAAGAGTCTCTTACCTGTTA	0.443000													5	76					0.014758	0.0152742	1	1	0
MARK1	4139	broad.mit.edu	37	1	220791840	220791840	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:220791840C>T	ENST00000402574.1	+	8	1338	c.336C>T	c.(334-336)ctC>ctT	p.L112L	MARK1_ENST00000366918.4_Silent_p.L225L|MARK1_ENST00000366917.4_Silent_p.L247L	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	247	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L247L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GCGTCATTCTCTATACATTAG	0.428000													19	97					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115342539	115342539	+	Translation_Start_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:115342539G>C	ENST00000305124.6	+	1	369	c.3G>C	c.(1-3)atG>atC	p.M1I	GAP43_ENST00000393780.3_5'UTR	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	1	Important for membrane binding.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.M1I(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGACAACCATGCTGTGCTGTA	0.463000													23	162					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175709	55175709	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:55175709T>A	ENST00000391736.1	+	6	743	c.428T>A	c.(427-429)cTg>cAg	p.L143Q	LILRB4_ENST00000270452.2_Missense_Mutation_p.L143Q|LILRB4_ENST00000391733.3_Missense_Mutation_p.L143Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.L143Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L143Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	143	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity	p.L143Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTGACCCTGCTGTGTCAGTCA	0.567000													24	170					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53529766	53529766	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:53529766C>A	ENST00000357758.3	-	7	1844	c.1661G>T	c.(1660-1662)cGg>cTg	p.R554L	DDHD1_ENST00000323669.5_Missense_Mutation_p.R554L|DDHD1_ENST00000395606.1_Missense_Mutation_p.R561L	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	554					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.R554L(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TTCATACAGCCGAACTGGATT	0.388000													61	198					3.30712e-30	6.60885e-30	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139768047	139768047	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:139768047G>A	ENST00000303045.6	-	19	2374	c.1928C>T	c.(1927-1929)cCt>cTt	p.P643L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P643L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	643	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P643L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGTACACCAGGTGGCCCCGC	0.542000										HNSCC(7;0.00092)			17	136					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30433113	30433113	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:30433113C>A	ENST00000358117.5	-	6	909	c.787G>T	c.(787-789)Ggt>Tgt	p.G263C	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	263					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GTTGTGTAACCGTCGGTCATG	0.463000													10	88					0.000673444	0.000730879	1	1	0
SPDL1	54908	broad.mit.edu	37	5	169015427	169015427	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:169015427G>C	ENST00000265295.4	+	2	286	c.7G>C	c.(7-9)Gca>Cca	p.A3P	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.A3P(1)									GAACATGGAGGCAGATATAAT	0.343000													9	46					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1471274	1471274	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:1471274G>C	ENST00000331035.4	+	6	840	c.491G>C	c.(490-492)gGg>gCg	p.G164A	IL3RA_ENST00000381469.2_Missense_Mutation_p.G86A	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	164						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.G164A(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACACGTATCGGGTGTCGTTTC	0.577000													24	416					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72958754	72958754	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:72958754G>T	ENST00000262209.4	-	17	2262	c.2055C>A	c.(2053-2055)gcC>gcA	p.A685A	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	685						integral to plasma membrane		p.A685A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTACGTTGAGGGCTGTAAGCG	0.294000													14	127					1.02788e-11	1.54308e-11	1	1	0
AMER3	205147	broad.mit.edu	37	2	131520421	131520421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:131520421C>A	ENST00000423981.1	+	2	886	c.776C>A	c.(775-777)tCg>tAg	p.S259*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.S259*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.S259L(1)|p.S259*(1)									GATGAGAGCTCGGTGCCATCT	0.647000													40	155					1.57019e-19	2.82727e-19	1	1	0
RGS7	6000	broad.mit.edu	37	1	240969465	240969465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:240969465C>A	ENST00000366565.1	-	15	1625	c.1244G>T	c.(1243-1245)gGa>gTa	p.G415V	RGS7_ENST00000366562.4_Missense_Mutation_p.G415V|RGS7_ENST00000366563.1_Missense_Mutation_p.G415V|RGS7_ENST00000331110.7_Missense_Mutation_p.G389V|RGS7_ENST00000366564.1_Missense_Mutation_p.G415V|RGS7_ENST00000401882.1_Missense_Mutation_p.G362V|RGS7_ENST00000407727.1_Missense_Mutation_p.G415V|RGS7_ENST00000348120.2_Missense_Mutation_p.G362V|RGS7_ENST00000446183.2_Missense_Mutation_p.G331V	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	415	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.G415V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGTGTATCGTCCAGGTTCCTT	0.463000													32	141					1.61788e-16	2.7613e-16	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181705562	181705562	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:181705562C>T	ENST00000526775.1	+	21	3522	c.3357C>T	c.(3355-3357)acC>acT	p.T1119T	CACNA1E_ENST00000358338.5_Silent_p.T1070T|CACNA1E_ENST00000357570.5_Silent_p.T1089T|CACNA1E_ENST00000367570.1_Silent_p.T1138T|CACNA1E_ENST00000360108.3_Silent_p.T1119T|CACNA1E_ENST00000367573.2_Silent_p.T1138T|CACNA1E_ENST00000367567.4_Silent_p.T745T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1138					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T1138T(2)		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						TCTTCAGCACCACCAACCCGT	0.577000													10	36					0	0	1	0	0
RAB43	339122	broad.mit.edu	37	3	128813856	128813856	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:128813856C>A	ENST00000315150.5	-	2	661	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	RAB43_ENST00000476465.1_Missense_Mutation_p.G121C|RAB43_ENST00000393308.1_Missense_Mutation_p.G121C|RAB43_ENST00000393305.1_Missense_Mutation_p.G121C|ISY1-RAB43_ENST00000418265.1_3'UTR|RAB43_ENST00000393307.1_Missense_Mutation_p.G121C|RAB43_ENST00000393304.1_Missense_Mutation_p.G121C	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	121					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.G121C(1)		kidney(2)|liver(1)|lung(2)|skin(1)	6						ATGTTGGAGCCCGCATACTTC	0.552000													16	149					1.2644e-06	1.55814e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179435496	179435496	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179435496G>T	ENST00000589042.1	-	326	75587	c.75363C>A	c.(75361-75363)atC>atA	p.I25121I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.I16181I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I16056I|TTN_ENST00000342175.6_Silent_p.I16248I|TTN_ENST00000591111.1_Silent_p.I23480I|TTN_ENST00000342992.6_Silent_p.I22553I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23480	Fibronectin type-III 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I22553I(1)|p.I16181I(1)|p.I16248I(1)|p.I16056I(1)|p.I22551I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGAACCACGATTGTGTCTT	0.408000													23	276					1.85244e-09	2.55739e-09	1	1	0
IPO13	9670	broad.mit.edu	37	1	44429990	44429990	+	Silent	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:44429990A>C	ENST00000372343.3	+	15	3056	c.2394A>C	c.(2392-2394)gcA>gcC	p.A798A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	798					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.A798A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AACTCCTGGCACAGGTGTGTT	0.328000													25	156					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76742009	76742009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:76742009C>A	ENST00000393262.3	-	1	213	c.130G>T	c.(130-132)Gag>Tag	p.E44*		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	44					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.E44*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGAAGCACCTCGCCAGTGGGC	0.647000									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	107					1.58986e-06	1.94651e-06	1	1	0
SERPINC1	462	broad.mit.edu	37	1	173883690	173883690	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:173883690C>A	ENST00000367698.3	-	2	527		c.e2+1		SERPINC1_ENST00000494024.1_Splice_Site	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1						blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.?(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TTTGGTCGTACCTCCATCAGT	0.517000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	97					1.49906e-05	1.75486e-05	1	1	0
ZNF792	126375	broad.mit.edu	37	19	35451811	35451811	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:35451811C>A	ENST00000404801.1	-	2	507	c.121G>T	c.(121-123)Gat>Tat	p.D41Y		NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D41Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCATCACATCGCAGTACAGG	0.577000													50	191					3.39706e-21	6.24956e-21	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70505074	70505074	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:70505074G>T	ENST00000310961.5	+	22	3886	c.3468G>T	c.(3466-3468)ggG>ggT	p.G1156G	LRRC7_ENST00000035383.5_Silent_p.G1151G|LRRC7_ENST00000415775.2_Silent_p.G435G			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1151						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATAGGGGAGGGCTGGATCGCC	0.522000													14	180					9.31168e-06	1.10534e-05	1	1	0
PTGDS	5730	broad.mit.edu	37	9	139873716	139873716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139873716C>A	ENST00000224167.2	+	3	371	c.296C>A	c.(295-297)gCg>gAg	p.A99E	PTGDS_ENST00000371625.3_Missense_Mutation_p.A99E|PTGDS_ENST00000460340.1_3'UTR			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	99					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	p.A99E(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCAGCCCGCGGGGTCCCTC	0.687000													25	247					6.38683e-12	9.73081e-12	1	1	0
DENND4A	10260	broad.mit.edu	37	15	65983385	65983385	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65983385C>T	ENST00000443035.3	-	23	3759	c.3544G>A	c.(3544-3546)Gct>Act	p.A1182T	DENND4A_ENST00000431932.2_Missense_Mutation_p.A1139T	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTTGTGTAGCAACACATCCT	0.378000													5	43					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104513164	104513164	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:104513164C>A	ENST00000406091.3	+	1	50	c.50C>A	c.(49-51)gCc>gAc	p.A17D	RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	17					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.A17E(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATCCCGGCGGCCTCTCAGCCG	0.652000										HNSCC(12;0.0054)			7	97					0.000157383	0.000176097	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72680634	72680634	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:72680634C>T	ENST00000261180.4	+	2	1049	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	318					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.T318M(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATGGGTTACGGATCACTTT	0.413000													30	203					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333247	333247	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:333247G>T	ENST00000343164.4	-	11	1274	c.1222C>A	c.(1222-1224)Cac>Aac	p.H408N	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.H316N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	408					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.H408N(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGGAACACGTGAGGGTACATG	0.562000													11	108					2.80697e-09	3.83849e-09	1	1	0
FOXI1	2299	broad.mit.edu	37	5	169535124	169535124	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:169535124A>G	ENST00000306268.6	+	2	707	c.646A>G	c.(646-648)Agg>Ggg	p.R216G	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	216					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	p.R216G(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGCAGGAAAAGGAAGAGAAA	0.493000									Pendred syndrome				8	118					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026317	36026317	+	Missense_Mutation	SNP	G	G	T	rs138793608	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:36026317G>T	ENST00000373243.2	+	3	948	c.565G>T	c.(565-567)Ggc>Tgc	p.G189C	NCDN_ENST00000373253.3_Missense_Mutation_p.G172C|NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Missense_Mutation_p.G189C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	189					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTGGGGCACGGCTATGGCTT	0.662000													18	115					2.48551e-13	3.93325e-13	1	1	0
LMOD2	442721	broad.mit.edu	37	7	123302841	123302841	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:123302841C>A	ENST00000458573.2	+	2	1358	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	401	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding	p.P401T(1)									CTGGTCATCCCCAAAACTCCC	0.567000													9	89					0.000274275	0.000302072	1	1	0
C19orf66	55337	broad.mit.edu	37	19	10197714	10197714	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:10197714G>T	ENST00000253110.11	+	2	429	c.131G>T	c.(130-132)cGc>cTc	p.R44L	C19orf66_ENST00000397881.3_5'UTR|C19orf66_ENST00000591813.1_Missense_Mutation_p.R44L	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	44										large_intestine(3)|skin(1)	4						GGAGTGGGGCGCTCCATCGTG	0.677000													5	28					5.9392e-07	7.4574e-07	1	1	0
BMPER	168667	broad.mit.edu	37	7	34125412	34125412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:34125412G>T	ENST00000297161.2	+	14	1827	c.1453G>T	c.(1453-1455)Gct>Tct	p.A485S	BMPER_ENST00000426693.1_Missense_Mutation_p.A485S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	485	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.M484_A485>IS(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGAAGTCATGGCTGCGCCGCA	0.428000													12	78					4.36969e-10	6.17489e-10	1	1	0
C1QTNF6	114904	broad.mit.edu	37	22	37578327	37578327	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:37578327C>A	ENST00000337843.2	-	3	813	c.738G>T	c.(736-738)gtG>gtT	p.V246V	C1QTNF6_ENST00000255836.6_Silent_p.V122V|C1QTNF6_ENST00000470655.1_5'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Silent_p.V246V	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	227	C1q.					collagen		p.V246V(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAAGAGCCGCACCCAGACGC	0.617000													16	65					4.7546e-09	6.46226e-09	1	1	0
LPHN2	23266	broad.mit.edu	37	1	82436173	82436173	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:82436173G>T	ENST00000370728.1	+	18	3542	c.2897G>T	c.(2896-2898)gGa>gTa	p.G966V	LPHN2_ENST00000271029.4_Missense_Mutation_p.G966V|LPHN2_ENST00000370730.1_Missense_Mutation_p.G966V|LPHN2_ENST00000370713.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G966V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370715.1_Missense_Mutation_p.G953V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.G953V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370721.1_Missense_Mutation_p.G891V|LPHN2_ENST00000359929.3_Missense_Mutation_p.G953V|LPHN2_ENST00000335786.5_Missense_Mutation_p.G966V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G966V|LPHN2_ENST00000370725.1_Missense_Mutation_p.G966V			O95490	LPHN2_HUMAN	latrophilin 2	966					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G953V(1)|p.G966V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAGTGGTTGGAGTTTCAGCT	0.358000													20	85					4.35082e-09	5.93645e-09	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64408830	64408830	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:64408830G>T	ENST00000358025.3	+	6	607	c.377G>T	c.(376-378)gGc>gTc	p.G126V	SYNE2_ENST00000344113.4_Missense_Mutation_p.G126V|SYNE2_ENST00000341472.5_Missense_Mutation_p.G126V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G126V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.G126V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	126	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.G126V(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTATCCTTGGCCTAATTTGG	0.303000													28	89					2.42023e-17	4.1978e-17	1	1	0
GALNT18	374378	broad.mit.edu	37	11	11314629	11314629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:11314629C>A	ENST00000227756.4	-	10	2035	c.1624G>T	c.(1624-1626)Gaa>Taa	p.E542*		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18									p.E542*(1)									TAGCTGCATTCGATGAGCCGG	0.592000													17	122					3.41278e-10	4.8703e-10	1	1	0
PDE6A	5145	broad.mit.edu	37	5	149264109	149264109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:149264109G>A	ENST00000255266.5	-	16	2079	c.1960C>T	c.(1960-1962)Cag>Tag	p.Q654*		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	654					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.Q654*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGCTCATGCTGTCGACGATTG	0.423000													15	69					0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104160161	104160161	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:104160161G>T	ENST00000369966.3	+	16	1961	c.1711G>T	c.(1711-1713)Ggc>Tgc	p.G571C	NFKB2_ENST00000428099.1_Missense_Mutation_p.G571C|NFKB2_ENST00000189444.6_Missense_Mutation_p.G571C	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	571					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.G571C(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		GCTGCGGGCAGGCGCTGGTGC	0.627000			T	IGH@	B-NHL								24	100					9.86323e-18	1.72906e-17	1	1	0
CASP9	842	broad.mit.edu	37	1	15831140	15831140	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:15831140C>A	ENST00000546424.1	-	6	1078	c.834G>T	c.(832-834)aaG>aaT	p.K278N	CASP9_ENST00000375890.4_Missense_Mutation_p.K195N|CASP9_ENST00000348549.5_Intron|CASP9_ENST00000333868.5_Missense_Mutation_p.K278N			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	278					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	p.K278N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AGAGCTTGGGCTTCCCTCCCA	0.607000													22	84					1.22574e-08	1.63787e-08	1	1	0
LIG4	3981	broad.mit.edu	37	13	108863343	108863343	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:108863343G>C	ENST00000356922.4	-	2	546	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	LIG4_ENST00000405925.1_Missense_Mutation_p.L92V|LIG4_ENST00000442234.1_Missense_Mutation_p.L92V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	92					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.L92V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TCAATATAAAGCTTAGCAAGC	0.383000								Non-homologous end-joining					43	206					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367473	107367473	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107367473C>T	ENST00000542196.1	-	1	478	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A146T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CAGGACCCAGCTGCCATGGGT	0.468000													18	108					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8460523	8460523	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:8460523G>T	ENST00000381196.4	-	30	4306	c.3763C>A	c.(3763-3765)Ctg>Atg	p.L1255M	PTPRD_ENST00000397611.3_Missense_Mutation_p.L841M|PTPRD_ENST00000486161.1_Missense_Mutation_p.L844M|PTPRD_ENST00000397617.3_Missense_Mutation_p.L834M|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1255M|PTPRD_ENST00000355233.5_Missense_Mutation_p.L844M|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1233M|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1242M|PTPRD_ENST00000397606.3_Missense_Mutation_p.L834M|PTPRD_ENST00000537002.1_Missense_Mutation_p.L841M|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1255M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1255					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1255M(2)|p.L726M(1)|p.L844M(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCGGATCCAGATCCATTGAC	0.438000										TSP Lung(15;0.13)			59	109					3.09758e-43	6.47461e-43	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52168053	52168053	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52168053C>G	ENST00000354534.5	+	20	3904	c.3726C>G	c.(3724-3726)atC>atG	p.I1242M	SCN8A_ENST00000545061.1_Missense_Mutation_p.I1242M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1242					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	p.I1242M(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCACCTATATCTTCATCCTGG	0.493000													12	175					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85590289	85590289	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:85590289G>T	ENST00000315658.7	+	4	458	c.199_splice	c.e4+1	p.V67_splice	ELMOD3_ENST00000409890.2_Splice_Site_p.V67_splice|ELMOD3_ENST00000409344.3_Splice_Site_p.V67_splice|ELMOD3_ENST00000409013.3_Splice_Site_p.V67_splice|ELMOD3_ENST00000393852.4_Splice_Site_p.V67_splice|ELMOD3_ENST00000428955.2_Splice_Site_p.V67_splice|ELMOD3_ENST00000490508.1_3'UTR	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	67					phagocytosis	cytoskeleton		p.?(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GGAGCCACGTGGTAAGGTTCC	0.507000													13	36					3.27435e-08	4.30043e-08	1	1	0
RASL11A	387496	broad.mit.edu	37	13	27847369	27847369	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:27847369A>T	ENST00000241463.4	+	4	1085	c.467A>T	c.(466-468)cAg>cTg	p.Q156L	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	156	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	p.Q156L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CATGCCCGGCAGGTGCAGACA	0.527000													12	68					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359460	72359460	+	Missense_Mutation	SNP	C	C	T	rs148075682		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:72359460C>T	ENST00000001146.2	-	6	1638	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I|CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	479			V -> I.		cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.V479I(2)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCAGGACGGGGACCAAG	0.642000													7	23					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27560391	27560391	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:27560391C>T	ENST00000359541.2	-	6	1414	c.985G>A	c.(985-987)Gag>Aag	p.E329K	AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000585645.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.E329K|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000416453.2_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	329						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAATCCACTCAGCAAACTCC	0.458000													13	93					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342932	47342932	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:47342932C>A	ENST00000398879.1	-	22	3439	c.3073G>T	c.(3073-3075)Gcc>Tcc	p.A1025S	TNS3_ENST00000311160.9_Missense_Mutation_p.A1025S|TNS3_ENST00000355730.3_Missense_Mutation_p.A785S			Q68CZ2	TENS3_HUMAN	tensin 3	1025						focal adhesion	protein binding	p.A1025S(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCCACTGGGGCGGTGCCGAAG	0.677000													12	42					2.68362e-12	4.12193e-12	1	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846051	18846051	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:18846051G>T	ENST00000412938.1	+	0	3409																											GGATGTCTGCGGCCACCCCAG	0.637000													6	85					0.000157383	0.000176097	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207176120	207176120	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207176120C>G	ENST00000374423.3	+	5	7254	c.6868C>G	c.(6868-6870)Cct>Gct	p.P2290A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2290							nucleic acid binding|zinc ion binding	p.P2290A(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGCAAATCCTCCTCCAAAGCG	0.517000													4	33					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38403744	38403744	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:38403744A>G	ENST00000351773.3	+	6	907	c.77A>G	c.(76-78)gAc>gGc	p.D26G	ZNF37A_ENST00000361085.4_Missense_Mutation_p.D26G|ZNF37A_ENST00000479469.1_3'UTR	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	26	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D26G(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CAGCATCTGGACCCTGCTCAG	0.493000													26	193					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10411224	10411224	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:10411224C>G	ENST00000226207.5	-	17	2041	c.1947G>C	c.(1945-1947)caG>caC	p.Q649H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	649	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.Q649H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGACACAGTCTGGAAAGAAG	0.413000													10	140					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101090	25101090	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:25101090G>C	ENST00000216341.4	-	4	680	c.574C>G	c.(574-576)Cca>Gca	p.P192A	RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.P226A|GZMB_ENST00000382540.1_Missense_Mutation_p.P147A|GZMB_ENST00000415355.3_Missense_Mutation_p.P180A|GZMB_ENST00000526004.1_3'UTR			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	192	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.P226A(1)|p.P192A(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTAATCTCTGGGTCCCCCACG	0.463000													29	171					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24888676	24888676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:24888676C>A	ENST00000347898.3	+	7	1197	c.575C>A	c.(574-576)aCg>aAg	p.T192K	SLC5A11_ENST00000449109.2_Missense_Mutation_p.T128K|SLC5A11_ENST00000567758.1_Missense_Mutation_p.T157K|SLC5A11_ENST00000539472.1_Missense_Mutation_p.T128K|SLC5A11_ENST00000545376.1_Missense_Mutation_p.T122K|SLC5A11_ENST00000569071.1_Missense_Mutation_p.T128K|SLC5A11_ENST00000565769.1_Missense_Mutation_p.T128K|SLC5A11_ENST00000424767.2_Missense_Mutation_p.T157K|SLC5A11_ENST00000568579.1_Missense_Mutation_p.T122K	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	192					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.T192K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGTATACACGGTTGCTGGT	0.532000													17	366					1.45105e-14	2.36954e-14	1	1	0
ALDH1A2	8854	broad.mit.edu	37	15	58257929	58257929	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:58257929C>A	ENST00000249750.4	-	8	1662	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.A270S|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.A203S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.A278S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.A261S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	299					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.A299S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTACAGTCAGCATCAGCAAAA	0.408000													12	138					1.5842e-08	2.10769e-08	1	1	0
SPRY3	10251	broad.mit.edu	37	X	155004396	155004396	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:155004396T>A	ENST00000302805.2	+	2	1294	c.863T>A	c.(862-864)gTa>gAa	p.V288E		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	288					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.V288E(1)				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)					GAAAAGTCTGTATGACCTTCC	0.542000													17	185					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006974	32006974	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:32006974C>T	ENST00000418967.2	+	3	554	c.396C>T	c.(394-396)atC>atT	p.I132I	CYP21A2_ENST00000435122.2_Silent_p.I102I	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	131					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	p.I132I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						TGCTGGGCATCCGTGACTCCA	0.622000													3	24					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584558	30584558	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30584558G>A	ENST00000217299.3	+	3	1212	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	346						integral to membrane		p.G346G(1)		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)			TCATCCAAGGGGAGACGGACT	0.562000													20	87					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154379774	154379774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:154379774G>T	ENST00000406326.1	+	6	1445	c.1042G>T	c.(1042-1044)Ggc>Tgc	p.G348C	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.G348C(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGATTTCGGGCCAGAGAGC	0.577000													26	198					1.39806e-14	2.28756e-14	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55110916	55110916	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55110916G>T	ENST00000314721.2	+	1	290	c.240G>T	c.(238-240)atG>atT	p.M80I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M80I(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCAAATTGATGATAGACTTAC	0.453000													67	259					3.58576e-35	7.34498e-35	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124756387	124756387	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:124756387G>T	ENST00000306534.3	-	16	3252	c.2767C>A	c.(2767-2769)Ccc>Acc	p.P923T	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P778T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	923					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCCTCCCTGGGCTCTAGACCG	0.547000													11	135					0.000673444	0.000730879	1	1	0
RGS18	64407	broad.mit.edu	37	1	192150455	192150455	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:192150455C>T	ENST00000367460.3	+	4	498	c.317C>T	c.(316-318)aCt>aTt	p.T106I		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	106	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCTTAAAACTGAATTCAGT	0.284000													11	110					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59206354	59206354	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:59206354C>A	ENST00000262717.4	+	9	1904	c.1506C>A	c.(1504-1506)gtC>gtA	p.V502V	CDH20_ENST00000538374.1_Silent_p.V502V|CDH20_ENST00000536675.2_Silent_p.V502V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	502	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V502V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AAGCTTTTGTCTGTGAGAACG	0.463000													35	218					3.33393e-15	5.55128e-15	1	1	0
PLA2G2E	30814	broad.mit.edu	37	1	20246811	20246811	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:20246811G>T	ENST00000375116.3	-	4	475	c.418C>A	c.(418-420)Ccg>Acg	p.P140T		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	140					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.P140T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGGGCGGGGTGGGCCCG	0.652000													19	56					2.94398e-08	3.88106e-08	1	1	0
REM1	28954	broad.mit.edu	37	20	30065698	30065698	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30065698G>T	ENST00000201979.2	+	3	701	c.408G>T	c.(406-408)tgG>tgT	p.W136C		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	136					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.W136C(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGGACACCTGGGAGGCCGAGA	0.562000													12	37					5.50884e-06	6.56782e-06	1	1	0
CADPS	8618	broad.mit.edu	37	3	62751548	62751548	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:62751548C>A	ENST00000383710.4	-	2	902	c.553G>T	c.(553-555)Gag>Tag	p.E185*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.E185*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.E185*|CADPS_ENST00000490353.2_Nonsense_Mutation_p.E185*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	185					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.E185*(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTCTCACCTCATAGTAACTC	0.517000													19	106					8.34094e-07	1.03097e-06	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43749322	43749322	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:43749322G>A	ENST00000263801.3	-	12	1721	c.1469C>T	c.(1468-1470)tCt>tTt	p.S490F	TP53BP1_ENST00000382039.3_Missense_Mutation_p.S495F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S495F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S495F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	490					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	p.S490F(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGAAGTTTTAGAACACTCAAC	0.388000								Other conserved DNA damage response genes					5	87					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78573766	78573766	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:78573766G>T	ENST00000396137.4	+	2	1528	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	356					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.V356L(1)|p.V2L(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGAGAGCATGGTGGAGCTTCT	0.408000													24	103					4.26978e-12	6.51745e-12	1	1	0
INTS4P2	644619	broad.mit.edu	37	7	65157788	65157788	+	RNA	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:65157788C>T	ENST00000430126.2	+	0	1115																											TGCCTACCTCCGAGACAGTCT	0.423000													16	200					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110881445	110881445	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:110881445C>T	ENST00000316534.4	-	20	2198	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	NPHP1_ENST00000393272.3_Missense_Mutation_p.D708N|NPHP1_ENST00000417665.1_Missense_Mutation_p.D687N|NPHP1_ENST00000355301.4_Missense_Mutation_p.D590N|NPHP1_ENST00000445609.2_Missense_Mutation_p.D653N			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	708					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	p.D709N(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGAACTCCGTCTGGTGACAGC	0.498000													35	121					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904794	144904794	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:144904794G>T	ENST00000370490.1	+	1	5106	c.851G>T	c.(850-852)aGg>aTg	p.R284M	SLITRK2_ENST00000434188.2_Missense_Mutation_p.R284M|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R284M|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R284M|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R284M			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	284						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CACGTCCAAAGGCTGTCACCT	0.567000													12	162					0.000978159	0.00105738	1	1	0
AZI1	22994	broad.mit.edu	37	17	79177294	79177294	+	Splice_Site	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:79177294T>C	ENST00000269392.4	-	6	876	c.629_splice	c.e6+1	p.N210_splice	AZI1_ENST00000570482.2_5'UTR|AZI1_ENST00000575907.1_Splice_Site_p.N210_splice|AZI1_ENST00000374782.3_Splice_Site_p.N210_splice|AZI1_ENST00000450824.2_Splice_Site_p.N210_splice	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	210					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.N210S(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGACCTTACTTGAGGGAGGG	0.667000													8	15					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484004	43484004	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:43484004G>A	ENST00000395891.1	+	11	1838	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	HECW1_ENST00000453890.1_Silent_p.E411E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	411					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E390E(1)|p.E411E(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAGCATAGAGCTTTCCAGAC	0.627000													10	90					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050727	238050727	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:238050727G>T	ENST00000366570.4	-	5	846	c.688C>A	c.(688-690)Caa>Aaa	p.Q230K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	230	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.Q230K(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACAAAAGCTTGTGTTGCCATC	0.522000													38	164					7.62715e-32	1.54048e-31	1	1	0
RSBN1L	222194	broad.mit.edu	37	7	77402527	77402527	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:77402527C>G	ENST00000334955.7	+	6	1716	c.1689C>G	c.(1687-1689)ctC>ctG	p.L563L	RSBN1L_ENST00000445288.1_Silent_p.L293L	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	563						nucleus		p.L563L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGAGATGCTCTTTGAAGACA	0.403000													9	152					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816053	82816053	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82816053C>T	ENST00000265077.3	+	7	2493	c.1928C>T	c.(1927-1929)aCa>aTa	p.T643I	VCAN_ENST00000342785.4_Missense_Mutation_p.T643I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T595I|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	643	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	p.T643I(1)		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)		CTGTCTACTACACCTTTTCCA	0.363000													13	184					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801880	67801880	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:67801880C>A	ENST00000544246.1	-	2	1384	c.693G>T	c.(691-693)caG>caT	p.Q231H	PCDH9_ENST00000456367.1_Missense_Mutation_p.Q231H|PCDH9_ENST00000377861.3_Missense_Mutation_p.Q231H|PCDH9_ENST00000377865.2_Missense_Mutation_p.Q231H|PCDH9_ENST00000328454.5_Missense_Mutation_p.Q231H	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	231	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q231H(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TACTGGATTTCTGTGGAGTGC	0.438000													41	166					2.40579e-17	4.18458e-17	1	1	0
PARP1	142	broad.mit.edu	37	1	226566929	226566929	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:226566929G>T	ENST00000366794.5	-	12	1802	c.1659C>A	c.(1657-1659)ttC>ttA	p.F553L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	553					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.F553L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGTGGCACTGAAGACCTTCC	0.532000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					44	297					1.41504e-22	2.6509e-22	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14784345	14784345	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:14784345G>T	ENST00000358984.4	+	13	1761	c.1581G>T	c.(1579-1581)gaG>gaT	p.E527D	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E527D|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	527										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGCTTCCTGAGAAGCCATCTG	0.328000													6	54					0.27861	0.279978	1	1	0
MED13L	23389	broad.mit.edu	37	12	116428865	116428865	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:116428865C>A	ENST00000281928.3	-	17	4100	c.3894G>T	c.(3892-3894)ctG>ctT	p.L1298L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1298					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.L1298L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CACTTCTCACCAGAGCTTCGT	0.458000													15	94					0.00316338	0.00335895	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158669885	158669885	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158669885C>G	ENST00000359610.2	-	1	601	c.558G>C	c.(556-558)ctG>ctC	p.L186L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L186L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGTGCAGGCCAGACGCAGCA	0.488000													49	157					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154110713	154110713	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:154110713T>A	ENST00000368559.3	-	6	790	c.717_splice	c.e6-1	p.K240_splice	NUP210L_ENST00000271854.3_Splice_Site_p.K240_splice	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	240						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGCTGCCACTTTCTAAAAGAG	0.338000													13	123					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903867	4903867	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:4903867C>A	ENST00000380378.1	+	1	819	c.819C>A	c.(817-819)caC>caA	p.H273Q	OR51T1_ENST00000322049.1_Missense_Mutation_p.H246Q|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTCTGTCACATCTGTGCAG	0.488000													9	78					0.00621372	0.00650784	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158644207	158644207	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:158644207G>T	ENST00000368148.3	-	10	1442	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.S421Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	421					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.S421*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCATCGTAAGAGTCAATCTC	0.453000													42	351					9.9998e-32	2.01473e-31	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87969756	87969756	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:87969756G>T	ENST00000369577.3	+	8	6452	c.6409G>T	c.(6409-6411)Gct>Tct	p.A2137S	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2132S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A2137S(1)|p.A1992S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCATTACCAGGCTGTACACAA	0.408000													9	131					0.00448238	0.0047329	1	1	0
PROP1	5626	broad.mit.edu	37	5	177421183	177421183	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:177421183C>T	ENST00000308304.2	-	2	574	c.266G>A	c.(265-267)gGg>gAg	p.G89E		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	89					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G89E(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTTCCTCCCAAAGGCTGA	0.657000													36	176					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79522677	79522677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:79522677G>T	ENST00000264908.6	+	11	1123	c.744G>T	c.(742-744)agG>agT	p.R248S	ANXA3_ENST00000503570.2_Missense_Mutation_p.R209S|ANXA3_ENST00000512884.1_Missense_Mutation_p.R209S	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	248					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	p.R248S(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ATTGTGTGAGGAACACGCCGG	0.383000													12	104					2.31682e-05	2.68149e-05	1	1	0
NACA	4666	broad.mit.edu	37	12	57106635	57106635	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:57106635C>G	ENST00000454682.1	-	8	6438	c.6157G>C	c.(6157-6159)Gtg>Ctg	p.V2053L	NACA_ENST00000546392.1_Missense_Mutation_p.V190L|NACA_ENST00000356769.3_Missense_Mutation_p.V190L|NACA_ENST00000550952.1_Missense_Mutation_p.V900L|NACA_ENST00000552540.1_Missense_Mutation_p.V190L|NACA_ENST00000548563.1_Missense_Mutation_p.V111L|NACA_ENST00000393891.4_Missense_Mutation_p.V190L	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	190					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.V2053L(1)|p.V900L(1)|p.V190L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCTCTCGACACATTTGCTTGT	0.418000			T	BCL6	NHL								14	224					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112476088	112476088	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:112476088T>C	ENST00000230538.7	-	16	2418	c.2021A>G	c.(2020-2022)aAt>aGt	p.N674S	LAMA4_ENST00000424408.2_Missense_Mutation_p.N667S|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.N667S|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.N667S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	674	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.N667S(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGGCTTGATTGAGGAGGTT	0.398000													35	143					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757869	242757869	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:242757869C>T	ENST00000391969.2	+	5	1661	c.950C>T	c.(949-951)cCa>cTa	p.P317L	NEU4_ENST00000407683.1_Missense_Mutation_p.P317L|NEU4_ENST00000405370.1_Missense_Mutation_p.P317L|NEU4_ENST00000325935.6_Missense_Mutation_p.P330L|NEU4_ENST00000404257.1_Missense_Mutation_p.P329L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	317	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CACGAACCCCCAGAGGAGGCT	0.721000													13	47					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898903	233898903	+	Silent	SNP	G	G	T	rs2233387		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:233898903G>T	ENST00000233840.3	+	2	279	c.279G>T	c.(277-279)gcG>gcT	p.A93A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	93							exo-alpha-sialidase activity	p.A93A(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGTATGACGCGCAGACGGGGA	0.617000													37	186					7.04047e-22	1.30698e-21	1	1	0
OR51L1	119682	broad.mit.edu	37	11	5021020	5021020	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5021020C>T	ENST00000321543.1	+	1	808	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAAGCATCTGTCTCCCAT	0.463000													15	79					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196580	8196580	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:8196580C>A	ENST00000600128.1	-	15	2262	c.1848G>T	c.(1846-1848)gtG>gtT	p.V616V	FBN3_ENST00000601739.1_Silent_p.V616V|FBN3_ENST00000270509.2_Silent_p.V616V			Q75N90	FBN3_HUMAN	fibrillin 3	616						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.V616V(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTGCTGCGCACGTGGGTGT	0.677000													11	66					0.000673444	0.000730879	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113933969	113933969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:113933969G>T	ENST00000297405.5	-	10	1764	c.1520C>A	c.(1519-1521)aCt>aAt	p.T507N	CSMD3_ENST00000343508.3_Missense_Mutation_p.T467N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T403N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T507N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	507	Sushi 2.					integral to membrane|plasma membrane		p.T467N(1)|p.T507N(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						GAACTGCACAGTTGATCCAAG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	103					6.40141e-05	7.27191e-05	1	1	0
PROK1	84432	broad.mit.edu	37	1	110996662	110996662	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:110996662C>A	ENST00000271331.3	+	2	169	c.152C>A	c.(151-153)aCc>aAc	p.T51N		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	51					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	p.T51N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGATGTGCACCCCGCTGGGG	0.657000													11	81					0.00829132	0.00865426	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133928036	133928036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:133928036G>T	ENST00000361069.4	+	10	1922	c.1789G>T	c.(1789-1791)Gcc>Tcc	p.A597S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	597	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A597S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCCCAGGATGCCGGGCATCC	0.647000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	68					4.68919e-08	6.13567e-08	1	1	0
CDH2	1000	broad.mit.edu	37	18	25532249	25532249	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:25532249A>T	ENST00000269141.3	-	16	3012	c.2589T>A	c.(2587-2589)agT>agA	p.S863R	CDH2_ENST00000399380.3_Missense_Mutation_p.S832R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	863	Ser-rich.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.S863R(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGGAGCCACTGCCTTCAT	0.502000											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	127					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85622420	85622420	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:85622420C>A	ENST00000376447.3	-	7	1220	c.959_splice	c.e7-1	p.R320_splice		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	320					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	p.R320S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTCCAGATCCCTGTAAAATT	0.403000													10	141					3.86212e-05	4.42621e-05	1	1	0
EYS	346007	broad.mit.edu	37	6	66063495	66063495	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:66063495C>G	ENST00000503581.1	-	9	1852	c.1315G>C	c.(1315-1317)Ggg>Cgg	p.G439R	EYS_ENST00000370621.3_Missense_Mutation_p.G439R|EYS_ENST00000370618.3_Missense_Mutation_p.G439R|EYS_ENST00000342421.5_Missense_Mutation_p.G439R|EYS_ENST00000370616.2_Missense_Mutation_p.G439R|EYS_ENST00000393380.2_Missense_Mutation_p.G439R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	439					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						TTTGTGCACCCTGGAATGCAT	0.313000													7	95					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851463	47851463	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:47851463G>A	ENST00000359568.5	+	38	8192	c.8085G>A	c.(8083-8085)gaG>gaA	p.E2695E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2695					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.E2695E(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGTCTTTGGAGACACAGCGTG	0.527000													19	109					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606630	13606630	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:13606630G>A	ENST00000040738.5	-	10	2029	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	632	Lys-rich.						DNA binding	p.R632W(1)									GAAAGTCTCCGGGCAGGTTTA	0.363000													24	69					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49415406	49415406	+	Silent	SNP	T	T	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:49415406T>G	ENST00000274813.3	-	8	1664	c.1537A>C	c.(1537-1539)Agg>Cgg	p.R513R		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	513					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAATCTGCCTGTTTCGCACT	0.343000													7	117					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101083735	101083735	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:101083735C>A	ENST00000360863.6	-	6	650	c.456G>T	c.(454-456)tgG>tgT	p.W152C	RGS22_ENST00000523437.1_Missense_Mutation_p.W152C|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	152					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.W152C(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CGGACTTGCTCCATCTTACTT	0.383000													7	175					0.0381472	0.0389886	1	1	0
OR13C5	138799	broad.mit.edu	37	9	107360884	107360884	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107360884C>A	ENST00000374779.2	-	1	904	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D271Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCCAAGTCATCTGAATTAAGT	0.418000													18	119					1.67942e-08	2.22954e-08	1	1	0
UGT2A1	10941	broad.mit.edu	37	4	70513225	70513225	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:70513225C>A	ENST00000503640.1	-	1	193	c.138G>T	c.(136-138)aaG>aaT	p.K46N	UGT2A1_ENST00000512704.1_Missense_Mutation_p.K46N|UGT2A1_ENST00000286604.4_Missense_Mutation_p.K46N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.K46N	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	46					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATTATGCTCCTTTTTAATGA	0.408000													15	87					2.48551e-13	3.93325e-13	1	1	0
AADACL3	126767	broad.mit.edu	37	1	12785391	12785391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:12785391C>T	ENST00000332530.3	+	3	497	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	AADACL3_ENST00000359318.5_Nonsense_Mutation_p.Q161*	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	161							hydrolase activity	p.Q161*(1)|p.Q91*(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCGGGCTCAGATCCTGAT	0.537000													51	282					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937398	82937398	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82937398T>C	ENST00000274341.4	-	5	1832	c.982A>G	c.(982-984)Act>Gct	p.T328A		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	328	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.T328A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCAGCCTCAGTAGGACTGCAG	0.547000													64	220					0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74799863	74799863	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:74799863T>A	ENST00000305159.3	-	1	936	c.896A>T	c.(895-897)aAc>aTc	p.N299I		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N299I(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TACATCCCTGTTTCTCAGCGT	0.488000													45	138					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103004617	103004617	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:103004617G>A	ENST00000435765.1	+	9	1030	c.619G>A	c.(619-621)Gag>Aag	p.E207K	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.E207K|PSMC2_ENST00000544811.1_Missense_Mutation_p.E70K	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						CCTTGGCATTGAGCCTCCCAA	0.478000													11	118					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103301722	103301722	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:103301722C>A	ENST00000520539.1	-	35	5278	c.4672G>T	c.(4672-4674)Gat>Tat	p.D1558Y	UBR5_ENST00000220959.4_Missense_Mutation_p.D1558Y|UBR5_ENST00000519528.1_Intron|UBR5_ENST00000521922.1_Missense_Mutation_p.D1552Y	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1558					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	p.D1558Y(1)		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)			TGTTCTTCATCTCTGCCCCGA	0.428000													181	147					7.56914e-101	1.62215e-100	1	1	0
RNF152	220441	broad.mit.edu	37	18	59483405	59483405	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:59483405C>A	ENST00000312828.3	-	2	1391	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	98					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ATGTAGCACCCATTGCTGGGA	0.647000													23	77					3.83957e-06	4.63618e-06	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107671272	107671272	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107671272G>T	ENST00000388781.3	-	32	5054	c.4971C>A	c.(4969-4971)caC>caA	p.H1657Q	LAMB4_ENST00000388780.3_Missense_Mutation_p.H1657Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.H1657Q|LAMB4_ENST00000483484.1_Intron	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1657	Domain I.				cell adhesion	basement membrane		p.H1657Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCCAGCCTGGTGTTGGGCAG	0.493000													33	222					1.36615e-20	2.50392e-20	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15936789	15936789	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:15936789G>T	ENST00000504595.1	+	4	1451	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	FBXL7_ENST00000510662.1_Missense_Mutation_p.A277S|FBXL7_ENST00000329673.7_Missense_Mutation_p.A312S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	324					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.A324S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GATCTACTGCGCCTCCATCAA	0.667000													12	55					9.31168e-06	1.10534e-05	1	1	0
USP47	55031	broad.mit.edu	37	11	11957904	11957904	+	Missense_Mutation	SNP	G	G	T	rs36096029		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:11957904G>T	ENST00000339865.5	+	16	2483	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.D642Y|USP47_ENST00000399455.2_Missense_Mutation_p.D662Y	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	662					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.D574Y(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGTTAAATATGATGAGTTTCA	0.358000													13	84					7.93312e-07	9.82539e-07	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207176151	207176151	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207176151G>C	ENST00000374423.3	+	5	7285	c.6899G>C	c.(6898-6900)cGc>cCc	p.R2300P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2300							nucleic acid binding|zinc ion binding	p.R2300P(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTTCTTGCCGCGTTGCAAGA	0.507000													5	51					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920489	134920489	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:134920489C>G	ENST00000398015.3	+	12	2674	c.2304C>G	c.(2302-2304)taC>taG	p.Y768*	EPHB1_ENST00000493838.1_Nonsense_Mutation_p.Y329*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	768	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.Y768*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCTCCCGCTACCTCCAGGATG	0.522000													17	152					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105510277	105510277	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:105510277C>A	ENST00000276654.5	-	5	611	c.503G>T	c.(502-504)tGt>tTt	p.C168F	LRP12_ENST00000424843.2_Missense_Mutation_p.C149F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	168	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.C168F(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAACTGATCACAAGCACAATT	0.373000													10	98					3.86212e-05	4.42621e-05	1	1	0
VCAN	1462	broad.mit.edu	37	5	82816423	82816423	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:82816423G>A	ENST00000265077.3	+	7	2863	c.2298G>A	c.(2296-2298)atG>atA	p.M766I	VCAN_ENST00000342785.4_Missense_Mutation_p.M766I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.M718I|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	766	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	p.M766I(1)		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)		TAAGAGATATGGAGGAAGACT	0.383000													6	103					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25429478	25429478	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25429478G>T	ENST00000424208.1	+	0	450				SNORD115-8_ENST00000363856.1_RNA	NR_003305.1																						ACCTTACATTGTTCTGAAGAG	0.512000													51	484					3.85841e-42	8.04437e-42	1	1	0
PAX2	5076	broad.mit.edu	37	10	102541090	102541090	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:102541090G>T	ENST00000370296.2	+	5	1134	c.584G>T	c.(583-585)cGc>cTc	p.R195L	PAX2_ENST00000556085.1_Missense_Mutation_p.R194L|PAX2_ENST00000428433.1_Missense_Mutation_p.R195L|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000355243.3_Missense_Mutation_p.R195L|PAX2_ENST00000361791.3_Missense_Mutation_p.R195L			Q02962	PAX2_HUMAN	paired box 2	195					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	p.R195L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGGATTCCTCGCTCCAATGGT	0.562000													41	177					1.96642e-18	3.47948e-18	1	1	0
PCDH20	64881	broad.mit.edu	37	13	61985498	61985498	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:61985498A>T	ENST00000409186.1	-	5	4839	c.2734T>A	c.(2734-2736)Tgt>Agt	p.C912S	PCDH20_ENST00000409204.4_Missense_Mutation_p.C912S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	885					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C912S(1)|p.C885S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTCCTTAAACAGATGTATATG	0.433000													21	70					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61943875	61943875	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:61943875C>G	ENST00000422202.1	+	14	1996	c.1928C>G	c.(1927-1929)tCt>tGt	p.S643C	COL20A1_ENST00000326996.6_Missense_Mutation_p.S636C|COL20A1_ENST00000358894.6_Missense_Mutation_p.S636C|COL20A1_ENST00000435874.1_Missense_Mutation_p.S643C			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	636	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity	p.S636C(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGGCTCCTCTACGCTGACT	0.647000													13	100					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830185	147830185	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:147830185C>G	ENST00000513335.1	-	6	670	c.471G>C	c.(469-471)gaG>gaC	p.E157D	TTC29_ENST00000325106.4_Missense_Mutation_p.E131D|TTC29_ENST00000398886.4_Missense_Mutation_p.E157D			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	131							binding	p.E131D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TACCTTTCCTCTCAGCGTCCT	0.532000													21	179					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155129838	155129838	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:155129838G>T	ENST00000367178.3	+	11	1708	c.1132G>T	c.(1132-1134)Ggg>Tgg	p.G378W	SCAF8_ENST00000417268.1_Missense_Mutation_p.G378W|SCAF8_ENST00000367186.4_Missense_Mutation_p.G444W	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	378					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TATAGATGAAGGGCAAGATGG	0.388000													6	76					2.0095e-06	2.45295e-06	1	1	0
KCTD20	222658	broad.mit.edu	37	6	36442578	36442578	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:36442578A>C	ENST00000373731.2	+	3	564	c.173A>C	c.(172-174)gAc>gCc	p.D58A	KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	58						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D58A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CTCTCACTTGACTATGCCTCT	0.398000													39	150					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136382	55136382	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55136382G>A	ENST00000314706.3	+	1	1023	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	341					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L341L(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGAAATGGCTGTATCACTCAT	0.363000													30	161					0	0	1	0	0
NRG4	145957	broad.mit.edu	37	15	76254245	76254245	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:76254245T>C	ENST00000394907.3	-	4	356	c.175A>G	c.(175-177)Agt>Ggt	p.S59G	NRG4_ENST00000535975.1_Missense_Mutation_p.S59G	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	59						extracellular region|integral to membrane|plasma membrane	growth factor activity	p.S59G(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						AACAGGTTACTTTTAGTTTGG	0.388000													29	205					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237540692	237540692	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237540692G>T	ENST00000366574.2	+	8	850	c.533G>T	c.(532-534)gGa>gTa	p.G178V	RYR2_ENST00000542537.1_Missense_Mutation_p.G162V|RYR2_ENST00000360064.6_Missense_Mutation_p.G176V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	178	MIR 2.				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)			GTACGAGTTGGAGATGACCTC	0.433000													4	87					0.000602214	0.00065735	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75114989	75114989	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:75114989C>A	ENST00000326665.5	-	2	252	c.34G>T	c.(34-36)Gca>Tca	p.A12S		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	12										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTATTATATGCAGCAAGTAAC	0.348000													9	122					0.00621372	0.00650784	1	1	0
OFD1	8481	broad.mit.edu	37	X	13785314	13785314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:13785314C>T	ENST00000380567.1	+	21	3120	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	OFD1_ENST00000380550.3_Nonsense_Mutation_p.R850*|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Nonsense_Mutation_p.R890*			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	890	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.R890*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGTGAAAGAACGAAGGCAGAG	0.363000													23	143					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61951687	61951687	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:61951687C>A	ENST00000422202.1	+	24	3209	c.3141C>A	c.(3139-3141)gcC>gcA	p.A1047A	COL20A1_ENST00000326996.6_Silent_p.A1040A|COL20A1_ENST00000358894.6_Silent_p.A1040A|COL20A1_ENST00000435874.1_Silent_p.A1047A			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1040					cell adhesion	collagen|extracellular space	structural molecule activity	p.A1040A(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACACCTGGGCCGATGAGGACC	0.652000													32	155					8.16277e-20	1.48063e-19	1	1	0
GNB3	2784	broad.mit.edu	37	12	6952808	6952808	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:6952808G>T	ENST00000229264.3	+	8	848	c.443G>T	c.(442-444)tGc>tTc	p.C148F	GNB3_ENST00000435982.2_Missense_Mutation_p.C148F	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	148					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.C148F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TATCTCTCCTGCTGCCGCTTC	0.627000													27	95					3.65163e-15	6.07204e-15	1	1	0
FGB	2244	broad.mit.edu	37	4	155487754	155487754	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:155487754C>T	ENST00000302068.4	+	3	483	c.420C>T	c.(418-420)acC>acT	p.T140T	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	140					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T140T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTTCCCAGACCTCCTCTTCTT	0.413000													13	123					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73799562	73799562	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:73799562G>T	ENST00000264448.6	+	16	10666	c.10555G>T	c.(10555-10557)Gac>Tac	p.D3519Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.D3477Y	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3519					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.D3519Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCATCATCCAGACAAACATAG	0.383000													26	91					7.4402e-23	1.39917e-22	1	1	0
SI	6476	broad.mit.edu	37	3	164792404	164792404	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:164792404G>A	ENST00000264382.3	-	3	232	c.170C>T	c.(169-171)cCt>cTt	p.P57L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	57	Ser/Thr-rich.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P57L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGAATCAGAAGGATTTGTAGT	0.353000										HNSCC(35;0.089)			9	79					0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216914082	216914082	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:216914082G>A	ENST00000265322.7	-	6	692	c.618C>T	c.(616-618)tcC>tcT	p.S206S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	206					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.S206S(1)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAGCAGTCTGGGAATAAATAA	0.353000													16	150					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279551	114279551	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:114279551C>A	ENST00000357077.4	+	38	9830	c.9777C>A	c.(9775-9777)tcC>tcA	p.S3259S	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.S3226S|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3226					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S3259*(1)		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)		TAGATTTTTCCACACTCACCA	0.478000													21	162					7.45023e-12	1.1274e-11	1	1	0
QPRT	23475	broad.mit.edu	37	16	29690494	29690494	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:29690494C>A	ENST00000449759.1	+	2	92	c.92C>A	c.(91-93)aCc>aAc	p.T31N	QPRT_ENST00000395384.4_5'UTR|QPRT_ENST00000219771.7_3'UTR																							AGCCAACACACCAGCCCAGAC	0.657000													9	155					0.00829132	0.00865426	1	1	0
CDC27	996	broad.mit.edu	37	17	45206824	45206824	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:45206824C>A	ENST00000066544.3	-	16	2188	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	CDC27_ENST00000446365.2_Missense_Mutation_p.D638Y|CDC27_ENST00000531206.1_Missense_Mutation_p.D705Y|CDC27_ENST00000527547.1_Missense_Mutation_p.D698Y	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	699					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.D699Y(1)|p.D705Y(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTCTTGGGATCAATGACAATG	0.348000													41	71					2.40579e-17	4.18458e-17	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111060306	111060306	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:111060306C>T	ENST00000369771.2	-	1	1491	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	368						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.L368L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGGACGCCTTCAGTGTTTGCC	0.567000													18	193					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894146	219894146	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:219894146C>T	ENST00000341552.5	-	11	1712	c.1629G>A	c.(1627-1629)gtG>gtA	p.V543V	CCDC108_ENST00000410037.1_Silent_p.V478V|CCDC108_ENST00000453220.1_Silent_p.V543V|CCDC108_ENST00000441968.1_Silent_p.V543V|CCDC108_ENST00000409865.3_Silent_p.V532V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	543						integral to membrane	structural molecule activity	p.V543V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGACAGGCCACACGCCGAA	0.637000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	65					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96055354	96055354	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:96055354C>G	ENST00000297954.4	+	23	5718	c.5718C>G	c.(5716-5718)agC>agG	p.S1906R	WNK2_ENST00000427277.2_Missense_Mutation_p.S1481R|WNK2_ENST00000356055.3_Missense_Mutation_p.S231R|WNK2_ENST00000349097.3_Missense_Mutation_p.S1518R|WNK2_ENST00000395477.2_Missense_Mutation_p.S1869R|WNK2_ENST00000395475.2_3'UTR			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1906					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACGATCAGCGTGACCTCCT	0.612000													8	49					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975581	44975581	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:44975581T>A	ENST00000340446.4	-	1	901	c.610A>T	c.(610-612)Agc>Tgc	p.S204C		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	204						cilium		p.S204C(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTTCATTGCTGTTTGTTGCT	0.393000													16	258					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718102	142718102	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:142718102G>T	ENST00000381779.4	-	2	1048	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	SLITRK4_ENST00000356928.1_Missense_Mutation_p.L275M|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L275M	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	275						integral to membrane		p.L275M(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGAGGCAGGATGCGCACG	0.443000													21	76					2.37509e-13	3.77311e-13	1	1	0
IFIT1B	439996	broad.mit.edu	37	10	91144107	91144107	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:91144107T>A	ENST00000371809.3	+	2	1117	c.1037T>A	c.(1036-1038)cTg>cAg	p.L346Q	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	346							binding	p.L346Q(1)		endometrium(2)|large_intestine(3)|lung(8)	13						TATGTTGACCTGGCTGAAACG	0.403000													33	105					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473549	141473549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:141473549C>A	ENST00000389484.3	-	37	6987	c.6016G>T	c.(6016-6018)Gag>Tag	p.E2006*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2006					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E2006K(1)|p.E2006*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCCTTTCTCTGGGTGCACA	0.333000										TSP Lung(27;0.18)			4	86					1.23904e-05	1.45532e-05	1	1	0
WDR6	11180	broad.mit.edu	37	3	49049550	49049550	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:49049550G>C	ENST00000395474.3	+	2	953	c.673G>C	c.(673-675)Gac>Cac	p.D225H	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.D144H|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	195					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.D195H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGCCTTAGCAGACAACAAACC	0.537000													16	151					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44150429	44150429	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:44150429C>T	ENST00000450684.2	+	1	100	c.32C>T	c.(31-33)tCt>tTt	p.S11F	AEBP1_ENST00000223357.3_Intron			Q8IUX7	AEBP1_HUMAN	AE binding protein 1	0					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGCCCAGGCTCTTGGCTCTGC	0.582000													22	181					0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37936532	37936532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:37936532G>T	ENST00000199447.4	+	17	1977	c.1605G>T	c.(1603-1605)ttG>ttT	p.L535F	NME8_ENST00000440017.1_Missense_Mutation_p.L535F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	535	NDK 3.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.L535F(1)									GGAGACGATTGATGGGCCCAA	0.463000													10	226					0.000673444	0.000730879	1	1	0
ALX1	8092	broad.mit.edu	37	12	85677430	85677430	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:85677430C>A	ENST00000316824.3	+	2	462	c.307C>A	c.(307-309)Cga>Aga	p.R103R		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	103					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R103R(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TAACAGTCTCCGAATGTCTCC	0.478000													14	136					6.72482e-11	9.86629e-11	1	1	0
DLGAP4	22839	broad.mit.edu	37	20	35075217	35075217	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:35075217C>A	ENST00000373913.3	+	7	2005	c.1525C>A	c.(1525-1527)Cgc>Agc	p.R509S	DLGAP4_ENST00000373907.2_Missense_Mutation_p.R509S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R509S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R509S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	509					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CTTCCGCTCCCGCAGCCACAG	0.657000													4	41					0.014758	0.0152742	1	1	0
NDUFS1	4719	broad.mit.edu	37	2	207017196	207017196	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:207017196C>A	ENST00000233190.5	-	3	366	c.100G>T	c.(100-102)Gta>Tta	p.V34L	NDUFS1_ENST00000449699.1_Missense_Mutation_p.V34L|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.V34L|NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000457011.1_Intron|NDUFS1_ENST00000455934.2_Missense_Mutation_p.V48L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	34	2Fe-2S ferredoxin-type.				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TCAACAAATACTTCAATCAAG	0.388000													6	163					0.00198382	0.00211837	1	1	0
TUBG1	7283	broad.mit.edu	37	17	40766531	40766531	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:40766531G>C	ENST00000251413.3	+	10	1076	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	338					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	p.Q338H(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		AGAGCTTGCAGAGGATCCGGG	0.657000													38	93					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517556	75517556	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:75517556G>A	ENST00000318622.4	+	5	1190	c.561G>A	c.(559-561)ctG>ctA	p.L187L	RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Silent_p.L187L|RHBDD2_ENST00000006777.6_Silent_p.L328L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	328						integral to membrane	serine-type endopeptidase activity	p.L328L(1)|p.L187L(1)		kidney(1)|lung(4)|prostate(1)	6						GCACCTCCCTGGGCATCCAGC	0.652000													42	350					0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108840972	108840972	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:108840972G>C	ENST00000368977.4	+	12	1462	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	426							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CAGTGAGTTGGAGCAAAGCAG	0.368000													7	139					0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56388845	56388845	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:56388845C>A	ENST00000262493.6	+	8	1791	c.945C>A	c.(943-945)ccC>ccA	p.P315P		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	315					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.P315P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				ACCGCTCACCCAACAAAGAAA	0.493000													13	96					0.000219431	0.00024441	1	1	0
OR14I1	401994	broad.mit.edu	37	1	248845196	248845196	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248845196C>A	ENST00000342623.3	-	1	433	c.410G>T	c.(409-411)gGa>gTa	p.G137V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G137L(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATAGCACCCTCCTGATGTCAT	0.537000													10	80					0.0692343	0.0705265	1	1	0
AHSG	197	broad.mit.edu	37	3	186338719	186338719	+	Nonstop_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:186338719G>T	ENST00000411641.2	+	7	1323	c.1104G>T	c.(1102-1104)taG>taT	p.*368Y	AHSG_ENST00000273784.5_Nonstop_Mutation_p.*369Y			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	0					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.*368Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TCAAGGTCTAGGCTAGACATG	0.582000													10	55					0.000673444	0.000730879	1	1	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819882	159819882	+	RNA	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:159819882A>T	ENST00000497452.1	-	0	517																											ATTTGCGAATATCAGCAAGGA	0.413000													37	89					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85799896	85799896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:85799896C>A	ENST00000521268.1	+	8	1848	c.743C>A	c.(742-744)tCa>tAa	p.S248*	RALYL_ENST00000518566.1_Nonsense_Mutation_p.S237*|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Nonsense_Mutation_p.S261*|RALYL_ENST00000523850.1_Nonsense_Mutation_p.S175*|RALYL_ENST00000521695.1_Nonsense_Mutation_p.S248*|RALYL_ENST00000522455.1_Nonsense_Mutation_p.S248*	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	248							identical protein binding|nucleotide binding|RNA binding	p.S248*(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAATGTGTGTCAGAGATTGCA	0.502000													20	194					8.00594e-06	9.53107e-06	1	1	0
CCDC137	339230	broad.mit.edu	37	17	79639110	79639110	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:79639110G>C	ENST00000329214.8	+	5	988	c.585G>C	c.(583-585)acG>acC	p.T195T		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	195										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTCCAGACACGGTGAAGTTTG	0.627000													5	104					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87531247	87531247	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:87531247A>T	ENST00000441037.2	+	23	3208	c.3113A>T	c.(3112-3114)cAt>cTt	p.H1038L	AGBL1_ENST00000389298.3_Missense_Mutation_p.H769L|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1038					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.H1038L(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ctgccaaagcatatttggttt	0.343000													51	271					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57971380	57971380	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57971380G>T	ENST00000302592.6	-	1	273	c.274C>A	c.(274-276)Ccc>Acc	p.P92T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P92T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGCATTTTGGGGACTGAGTTG	0.423000													64	227					7.59065e-32	1.53437e-31	1	1	0
MPL	4352	broad.mit.edu	37	1	43803815	43803815	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:43803815C>A	ENST00000372470.3	+	2	167	c.125C>A	c.(124-126)tCc>tAc	p.S42Y	MPL_ENST00000413998.2_Missense_Mutation_p.S42Y	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	42					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.S42Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAGTGTTTCTCCCGAACATTT	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						13	140					2.68362e-12	4.12193e-12	1	1	0
D2HGDH	728294	broad.mit.edu	37	2	242707190	242707190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:242707190G>T	ENST00000321264.4	+	10	1581	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Nonsense_Mutation_p.E324*	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	458					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	p.E458*(1)		breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCTGCCCTGGAGCCCCACGT	0.672000													25	118					6.12954e-19	1.09246e-18	1	1	0
AHRR	57491	broad.mit.edu	37	5	344053	344053	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:344053G>A	ENST00000316418.5	+	2	92	c.48G>A	c.(46-48)cgG>cgA	p.R16R	AHRR_ENST00000515206.1_Silent_p.R12R|AHRR_ENST00000505113.1_Silent_p.R16R|AHRR_ENST00000512529.1_5'UTR	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACGCGGGCCGGAAGCGGAGGA	0.642000													7	52					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37620025	37620025	+	Silent	SNP	G	G	A	rs2273108		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:37620025G>A	ENST00000434837.2	-	7	2252	c.1074C>T	c.(1072-1074)caC>caT	p.H358H	MDGA1_ENST00000505425.1_Silent_p.H358H|MDGA1_ENST00000297153.7_Silent_p.H358H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	358	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.H358H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGCATCCACGTGGCACGATA	0.562000													25	106					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220198515	220198515	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:220198515C>G	ENST00000366923.3	-	7	978	c.709G>C	c.(709-711)Gat>Cat	p.D237H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	237	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTTGTGTCATCAAATCTCATG	0.348000													6	87					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135112301	135112301	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135112301G>C	ENST00000370695.4	+	13	1662	c.1627G>C	c.(1627-1629)Gat>Cat	p.D543H	SLC9A6_ENST00000370698.3_Missense_Mutation_p.D511H|SLC9A6_ENST00000370701.1_Missense_Mutation_p.D491H	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	511					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.D511H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGTTGGTGTTGATTCAGACCA	0.353000													10	144					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546735	50546735	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:50546735A>T	ENST00000267845.3	-	5	970	c.568T>A	c.(568-570)Tct>Act	p.S190T	HDC_ENST00000543581.1_Missense_Mutation_p.S190T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	190					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.S190T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACCTGGTCAGAGGCATAGGCC	0.537000													9	97					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456378	230456378	+	Missense_Mutation	SNP	C	C	A	rs141603946		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:230456378C>A	ENST00000341772.4	-	2	637	c.503G>T	c.(502-504)cGc>cTc	p.R168L		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	168					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.R168L(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGCCTGAGAGCGAGGCAGGAT	0.542000													25	91					9.57634e-11	1.39747e-10	1	1	0
OBP2A	29991	broad.mit.edu	37	9	138439723	138439723	+	Missense_Mutation	SNP	G	G	T	rs144739878		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:138439723G>T	ENST00000539850.1	+	4	310	c.284G>T	c.(283-285)gGc>gTc	p.G95V	OBP2A_ENST00000371776.1_Missense_Mutation_p.G95V|OBP2A_ENST00000342114.4_Silent_p.G50G|OBP2A_ENST00000340780.3_Missense_Mutation_p.G95V			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	95					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.G95V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		ACAGATGGGGGCAGGAAGCTC	0.557000													6	56					0.00198382	0.00211837	1	1	0
NMUR1	10316	broad.mit.edu	37	2	232390050	232390050	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:232390050C>A	ENST00000305141.4	-	3	1118	c.985G>T	c.(985-987)Ggc>Tgc	p.G329C		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	329					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.G329C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGGTGCAGGCCATCTGTCCAC	0.632000													40	151					4.32679e-17	7.4888e-17	1	1	0
UBA6	55236	broad.mit.edu	37	4	68504786	68504786	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:68504786C>A	ENST00000322244.4	-	19	1670	c.1611G>T	c.(1609-1611)aaG>aaT	p.K537N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	537					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.K537N(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTGCATCTATCTTTATTTGAG	0.308000													5	54					8.12818e-05	9.18253e-05	1	1	0
ODF3	113746	broad.mit.edu	37	11	197628	197628	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:197628C>A	ENST00000325113.4	+	3	494	c.177C>A	c.(175-177)ctC>ctA	p.L59L	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_Silent_p.L59L|ODF3_ENST00000525282.1_Silent_p.L59L	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	59					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCCCATGCTCCTGGCAGAGA	0.637000													16	80					2.31682e-05	2.68149e-05	1	1	0
XCR1	2829	broad.mit.edu	37	3	46062476	46062476	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:46062476G>T	ENST00000309285.3	-	2	1320	c.964C>A	c.(964-966)Cct>Act	p.P322T	XCR1_ENST00000542109.1_Missense_Mutation_p.P322T	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	322					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.P322T(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AAGGCACCAGGGGAGTGGGGG	0.647000													8	28					3.09899e-07	3.9395e-07	1	1	0
OR11G2	390439	broad.mit.edu	37	14	20666364	20666364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20666364C>A	ENST00000357366.3	+	1	870	c.870C>A	c.(868-870)taC>taA	p.Y290*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290*(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CACTGTTCTACGGCTCAGTAC	0.507000													37	222					6.03168e-27	1.17384e-26	1	1	0
ACVR2B	93	broad.mit.edu	37	3	38519453	38519453	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:38519453G>T	ENST00000352511.3	+	3	834	c.362G>T	c.(361-363)gGc>gTc	p.G121V		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	121					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.G121V(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GAGGCTGGGGGCCCGGAAGGT	0.607000													35	243					3.11337e-16	5.29166e-16	1	1	0
DPP10	57628	broad.mit.edu	37	2	116525895	116525895	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:116525895G>T	ENST00000410059.1	+	13	1616	c.1136G>T	c.(1135-1137)aGa>aTa	p.R379I	DPP10_ENST00000393147.2_Missense_Mutation_p.R383I|DPP10_ENST00000310323.8_Missense_Mutation_p.R372I|DPP10_ENST00000409163.1_Missense_Mutation_p.R329I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	379					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.R372I(1)|p.R379I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTGTTTTCTAGAGACGGCAGC	0.453000													5	104					2.0095e-06	2.45295e-06	1	1	0
SPON1	10418	broad.mit.edu	37	11	14282211	14282211	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:14282211C>A	ENST00000310358.7	+	0	2444							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.R636R(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CATGCGAACCCGACAGCGGAT	0.572000													12	124					1.08611e-07	1.40246e-07	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48130772	48130772	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:48130772A>T	ENST00000311303.3	-	22	3425	c.3080T>A	c.(3079-3081)cTg>cAg	p.L1027Q	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1027	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L1027Q(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATCCATTCTCAGCGCAAACCA	0.463000													18	177					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157062580	157062580	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:157062580G>T	ENST00000454449.2	-	5	1231	c.947C>A	c.(946-948)cCc>cAc	p.P316H		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	316						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P316H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTCCATCATGGGAGCAGGCTT	0.607000													39	115					1.04594e-18	1.85743e-18	1	1	0
ZNF335	63925	broad.mit.edu	37	20	44588902	44588902	+	Silent	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:44588902G>C	ENST00000322927.2	-	14	2065	c.1965C>G	c.(1963-1965)ccC>ccG	p.P655P	ZNF335_ENST00000426788.1_Silent_p.P500P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	655					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P655P(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				AGGTGCGGTAGGGACAAAAGC	0.552000													9	87					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:47599133C>T	ENST00000533290.1	-	1	1208	c.494G>A	c.(493-495)cGc>cAc	p.R165H	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140	BACK.							p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517000													5	432					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532407	50532407	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:50532407G>T	ENST00000374144.3	+	3	2105	c.1817G>T	c.(1816-1818)gGg>gTg	p.G606V	C10orf71_ENST00000323868.4_Missense_Mutation_p.G606V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	606								p.G606V(2)		endometrium(1)	1						TATGTCAATGGGGAGGCTGCT	0.557000													12	55					5.50884e-06	6.56782e-06	1	1	0
OAS3	4940	broad.mit.edu	37	12	113384680	113384680	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:113384680G>T	ENST00000228928.7	+	4	948	c.769G>T	c.(769-771)Ggc>Tgc	p.G257C	OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	257	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	p.G257C(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AACTGTCCTGGGCCTGATCCA	0.572000													6	66					8.12818e-05	9.18253e-05	1	1	0
SI	6476	broad.mit.edu	37	3	164730802	164730802	+	Missense_Mutation	SNP	A	A	G	rs141495440		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:164730802A>G	ENST00000264382.3	-	34	4090	c.4028T>C	c.(4027-4029)aTa>aCa	p.I1343T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1343	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.I1343T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTTTTATCTATTGTTATGTT	0.333000										HNSCC(35;0.089)			48	168					0	0	1	0	0
ACTR3	10096	broad.mit.edu	37	2	114699825	114699825	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:114699825G>T	ENST00000263238.2	+	8	1067	c.747G>T	c.(745-747)ggG>ggT	p.G249G	ACTR3_ENST00000535589.2_Silent_p.G198G|ACTR3_ENST00000536059.1_Silent_p.G187G	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	249					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	p.G249G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATACAGATGGGTCAAAATGGA	0.318000													5	68					0.184627	0.186449	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102344976	102344976	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:102344976G>T	ENST00000376180.3	+	8	1276	c.1057G>T	c.(1057-1059)Gat>Tat	p.D353Y	ITGBL1_ENST00000545560.2_Missense_Mutation_p.D212Y|ITGBL1_ENST00000376162.3_Missense_Mutation_p.D260Y	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	353	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.D353Y(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTCCAGGAGATCGCCGGGT	0.478000													58	153					7.10663e-31	1.42597e-30	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458331	248458331	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248458331G>A	ENST00000317996.1	-	1	549	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CAAGCCAAACGCACCAACACG	0.552000													48	162					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238303368	238303368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:238303368C>A	ENST00000295550.4	-	3	1023	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.E191*|COL6A3_ENST00000346358.4_Nonsense_Mutation_p.E191*|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	191	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.E191*(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGAGCGGTTCACTTGCTATT	0.433000													21	194					1.64293e-13	2.61506e-13	1	1	0
UGT2B10	7365	broad.mit.edu	37	4	69693259	69693259	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:69693259G>T	ENST00000265403.7	+	5	1327	c.1300G>T	c.(1300-1302)Gat>Tat	p.D434Y	UGT2B10_ENST00000458688.2_Missense_Mutation_p.D350Y	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	434					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D434Y(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGTAATTAATGATCCTTCGTG	0.383000													19	192					7.41945e-09	9.95747e-09	1	1	0
C9orf96	169436	broad.mit.edu	37	9	136260790	136260790	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:136260790C>A	ENST00000371957.3	+	9	873	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	256	Protein kinase.						ATP binding|protein kinase activity	p.L256M(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGGCCGTCCTGAAGACAAT	0.552000													17	99					3.52763e-06	4.26162e-06	1	1	0
CTHRC1	115908	broad.mit.edu	37	8	104390389	104390389	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:104390389T>A	ENST00000330295.5	+	3	649	c.507T>A	c.(505-507)ccT>ccA	p.P169P	CTHRC1_ENST00000520880.1_Silent_p.P39P|CTHRC1_ENST00000520337.1_Silent_p.P155P	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	169						collagen		p.P169P(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GTTCAGGACCTCTTCCCATTG	0.388000													20	272					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41652411	41652411	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:41652411T>A	ENST00000230323.4	-	10	1658	c.1357A>T	c.(1357-1359)Acc>Tcc	p.T453S	TFEB_ENST00000373033.1_Missense_Mutation_p.T453S|TFEB_ENST00000358871.2_Missense_Mutation_p.T467S|TFEB_ENST00000403298.4_Missense_Mutation_p.T453S|TFEB_ENST00000420312.1_Missense_Mutation_p.T368S	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	453				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGGACATGGTGGACAGAAGT	0.647000			T	ALPHA	renal (childhood epithelioid)								18	198					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20682925	20682925	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:20682925C>A	ENST00000307493.4	-	4	747	c.680G>T	c.(679-681)aGt>aTt	p.S227I	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.S227I	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	227					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGTGGTCCCACTGGTGAAGAA	0.512000													18	147					1.67942e-08	2.22954e-08	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131913153	131913153	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:131913153C>A	ENST00000359827.3	-	6	2642	c.1680G>T	c.(1678-1680)cgG>cgT	p.R560R	PLXNA4_ENST00000321063.4_Silent_p.R560R			Q9HCM2	PLXA4_HUMAN	plexin A4	560						integral to membrane|intracellular|plasma membrane		p.R560R(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGACCGTCAGCCGGACACACT	0.592000													11	100					1.08611e-07	1.40246e-07	1	1	0
NDUFA12	55967	broad.mit.edu	37	12	95397411	95397411	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:95397411C>A	ENST00000327772.2	-	1	135	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	NDUFA12_ENST00000547157.1_Missense_Mutation_p.G16C|NDUFA12_ENST00000547986.1_Missense_Mutation_p.G16C	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	16					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	p.G16C(1)		endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CCGCCGTGGCCGGTGATCTGC	0.622000													29	274					9.88483e-10	1.38174e-09	1	1	0
STPG1	90529	broad.mit.edu	37	1	24700270	24700270	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:24700270T>A	ENST00000374409.1	-	6	747	c.493A>T	c.(493-495)Aac>Tac	p.N165Y	STPG1_ENST00000003583.8_Missense_Mutation_p.N118Y|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Missense_Mutation_p.N118Y|STPG1_ENST00000337248.4_Missense_Mutation_p.N165Y	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1									p.N118Y(1)|p.N165Y(1)									GTACAGACGTTGTTTCTCTGC	0.488000													68	431					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769068	31769068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:31769068C>T	ENST00000240587.4	-	2	1958	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	544					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W361*(1)|p.W544*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATAGCCCCCCCAGCTAGGAGT	0.552000													26	216					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43268410	43268410	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:43268410G>T	ENST00000404209.4	-	2	184	c.88C>A	c.(88-90)Cca>Aca	p.P30T	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.P30T|PSG8_ENST00000401467.2_Missense_Mutation_p.P30T	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	30						extracellular region		p.P30T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTCGTGGGTGGGTTCCAGAAG	0.483000													80	397					2.61628e-32	5.30163e-32	1	1	0
FAM134A	79137	broad.mit.edu	37	2	220046857	220046857	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220046857A>T	ENST00000430297.2	+	9	1274	c.1138A>T	c.(1138-1140)Agg>Tgg	p.R380W		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	380						endoplasmic reticulum|integral to membrane		p.R380W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTCTGTCAAGGCAAGCCCT	0.587000													76	365					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179338107	179338107	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:179338107G>T	ENST00000367618.3	+	3	657	c.270_splice	c.e3+1	p.K90_splice	AXDND1_ENST00000457238.2_Splice_Site_p.K90_splice|AXDND1_ENST00000461179.2_Intron	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	90								p.K90N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAACCCCAAAGGTTTGTATGT	0.348000													37	67					7.93934e-33	1.61282e-32	1	1	0
PAX3	5077	broad.mit.edu	37	2	223096856	223096856	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:223096856C>A	ENST00000350526.4	-	5	869	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	PAX3_ENST00000409551.3_Missense_Mutation_p.D244Y|PAX3_ENST00000344493.4_Missense_Mutation_p.D245Y|PAX3_ENST00000336840.6_Missense_Mutation_p.D245Y|PAX3_ENST00000392069.2_Missense_Mutation_p.D245Y|PAX3_ENST00000392070.2_Missense_Mutation_p.D245Y	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	245					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D245Y(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTATAAATGTCAGGGTAATGA	0.527000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						39	190					9.9191e-30	1.97577e-29	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950911	198950911	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:198950911G>T	ENST00000428675.1	+	2	3068	c.2670G>T	c.(2668-2670)gcG>gcT	p.A890A	PLCL1_ENST00000437704.2_Silent_p.A792A	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	890					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V793F(1)|p.V891F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTAAAATAGCGGTTCATCCAT	0.418000													10	92					3.07112e-06	3.71743e-06	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31599436	31599436	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:31599436G>T	ENST00000376033.2	+	16	3220	c.2986G>T	c.(2986-2988)Gag>Tag	p.E996*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.E996*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	996	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.E996*(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGCCCCAAGGAGACCCCACC	0.607000													7	43					0.00307968	0.00327149	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55405850	55405850	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55405850A>G	ENST00000314612.2	+	1	17	c.17A>G	c.(16-18)aAt>aGt	p.N6S		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N6S(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAAAGCAATAATAGCACTTTG	0.323000													22	271					0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104488200	104488200	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:104488200G>T	ENST00000369893.4	+	4	512	c.345G>T	c.(343-345)gcG>gcT	p.A115A		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	115					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CGATGCCGGCGGTGATCTTCT	0.552000													12	258					1.3612e-06	1.67239e-06	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37029325	37029325	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:37029325G>T	ENST00000358047.3	+	1	2894	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	948								p.G948W(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTAAGTTGGGGAAAAAGCT	0.458000													20	126					3.62473e-10	5.15182e-10	1	1	0
PRAME	23532	broad.mit.edu	37	22	22892504	22892504	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:22892504C>T	ENST00000543184.1	-	4	1459	c.597G>A	c.(595-597)gtG>gtA	p.V199V	PRAME_ENST00000539862.1_Silent_p.V183V|PRAME_ENST00000398743.2_Silent_p.V199V|PRAME_ENST00000398741.1_Silent_p.V199V|PRAME_ENST00000405655.3_Silent_p.V199V|PRAME_ENST00000402697.1_Silent_p.V199V|PRAME_ENST00000424204.2_Silent_p.V183V	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	199					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.V199V(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCTTTCGCTTCACTTTCTCAA	0.468000													33	183					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101736134	101736134	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:101736134C>A	ENST00000251127.6	-	31	3592	c.3511G>T	c.(3511-3513)Gat>Tat	p.D1171Y		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1171						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCTCTGATCGACGGTCAGC	0.512000													7	69					0.00198382	0.00211837	1	1	0
MMP12	4321	broad.mit.edu	37	11	102743797	102743797	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:102743797C>A	ENST00000532855.1	-	0	244							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATTTTTGTCACTGGAAGTTTG	0.348000													5	44					0.014758	0.0152742	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5294854	5294854	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:5294854G>A	ENST00000546004.1	-	2	408	c.162C>T	c.(160-162)atC>atT	p.I54I	PROKR2_ENST00000217270.3_Silent_p.I54I			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	54						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.I54I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCCAATGACGATCTTGGCTG	0.517000										HNSCC(71;0.22)			25	158					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779636	76779636	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:76779636G>T	ENST00000328299.3	+	2	313	c.165G>T	c.(163-165)agG>agT	p.R55S	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	55					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.R55S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACACATACAGGCGGCCCCTTC	0.448000													5	143					1.23904e-05	1.45532e-05	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35723372	35723372	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:35723372G>A	ENST00000187397.4	+	3	585	c.129_splice	c.e3+1	p.Q43_splice	ARPP21_ENST00000444190.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000458225.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000427542.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000432682.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000438071.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000428373.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000441454.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000474696.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000417925.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000337271.5_Splice_Site_p.Q43_splice|ARPP21_ENST00000436702.1_Splice_Site_p.Q43_splice|ARPP21_ENST00000396481.2_Splice_Site_p.Q43_splice|ARPP21_ENST00000396482.2_Splice_Site_p.Q43_splice|ARPP21_ENST00000412048.1_Splice_Site_p.Q43_splice	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	43						cytoplasm	nucleic acid binding	p.Q43Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGGAACTGCAGGTGAGTGAGC	0.433000													14	79					0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51390650	51390650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:51390650C>A	ENST00000394904.3	-	9	917	c.868G>T	c.(868-870)Gga>Tga	p.G290*	SLC11A2_ENST00000262051.7_Nonsense_Mutation_p.G261*|SLC11A2_ENST00000547688.1_Nonsense_Mutation_p.G290*|SLC11A2_ENST00000262052.5_Nonsense_Mutation_p.G261*|SLC11A2_ENST00000547198.1_Nonsense_Mutation_p.G261*|SLC11A2_ENST00000545993.2_Nonsense_Mutation_p.G257*|SLC11A2_ENST00000541174.2_Nonsense_Mutation_p.G261*|SLC11A2_ENST00000546743.1_Nonsense_Mutation_p.G182*	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	261					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	p.G261*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGACAGCTCCCACGATGCCC	0.522000													24	91					3.7963e-18	6.68367e-18	1	1	0
LIX1	167410	broad.mit.edu	37	5	96430680	96430680	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:96430680G>T	ENST00000274382.4	-	6	916	c.621C>A	c.(619-621)gcC>gcA	p.A207A	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	207										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TCCAGTCCAGGGCCATGTGGC	0.507000													12	111					1.61879e-10	2.34143e-10	1	1	0
ACAD11	84129	broad.mit.edu	37	3	132360962	132360962	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:132360962C>T	ENST00000264990.6	-	4	1362	c.391G>A	c.(391-393)Gat>Aat	p.D131N	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.D131N|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.D131N	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11									p.D131N(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATTGTTAAATCACGGAAGATT	0.368000													17	128					0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315923	70315923	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:70315923G>C	ENST00000303577.5	+	1	1339	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	350					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding	p.E350Q(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GCTTTCCTCTGAGAAGGGCAT	0.502000													11	81					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756307	248756307	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:248756307C>T	ENST00000330500.2	-	1	793	c.763G>A	c.(763-765)Gct>Act	p.A255T		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A255T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TTGTAAATAGCAGCTCCATAG	0.458000													19	110					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991432	112991432	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:112991432G>A	ENST00000495514.1	+	7	1547	c.843G>A	c.(841-843)ctG>ctA	p.L281L	BOC_ENST00000355385.3_Silent_p.L281L|BOC_ENST00000273395.4_Silent_p.L281L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	281	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.L281L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTTCCTGCTGAGCAACCTCC	0.632000													27	240					0	0	1	0	0
BLID	414899	broad.mit.edu	37	11	121986441	121986441	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:121986441C>A	ENST00000560104.1	-	1	482	c.190G>T	c.(190-192)Gtg>Ttg	p.V64L		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	64					apoptosis	mitochondrion		p.V64L(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AGAGAAAGCACTGTTTCCTTA	0.488000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	266					4.13886e-29	8.2308e-29	1	1	0
GCFC2	6936	broad.mit.edu	37	2	75928379	75928379	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:75928379C>A	ENST00000321027.3	-	4	787	c.654G>T	c.(652-654)caG>caT	p.Q218H	GCFC2_ENST00000409857.3_Missense_Mutation_p.Q180H|GCFC2_ENST00000541687.1_Missense_Mutation_p.Q218H	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	218					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q218H(1)									TTTCATCTTCCTGACTTTCTT	0.343000													13	77					2.31682e-05	2.68149e-05	1	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198101	170198101	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:170198101C>A	ENST00000231706.4	-	7	2285	c.1970G>T	c.(1969-1971)cGg>cTg	p.R657L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	657						integral to membrane	amino acid transmembrane transporter activity	p.R657L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GACCGCAAACCGGATCCATGT	0.498000													38	199					5.04308e-16	8.53605e-16	1	1	0
DCT	1638	broad.mit.edu	37	13	95121216	95121216	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:95121216G>A	ENST00000377028.5	-	2	792	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	DCT_ENST00000446125.1_Missense_Mutation_p.R127W	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	127					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.R127W(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ATGTTCTGCCGAATCACTGGT	0.512000													38	500					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187267	27187267	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:27187267C>G	ENST00000222728.3	-	1	126	c.102G>C	c.(100-102)gcG>gcC	p.A34A	HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_Intron|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						AGGGCCTCAGCGCGTCATAGC	0.612000													7	125					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871406	51871406	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:51871406A>T	ENST00000371497.5	+	2	2296	c.1409A>T	c.(1408-1410)gAg>gTg	p.E470V	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E467V|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E467V	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	470					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E470V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GAAAGGCCAGAGGAAACCAGC	0.418000													20	303					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552452	20552452	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:20552452C>A	ENST00000504154.1	+	25	2744	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.S823Y|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Missense_Mutation_p.S835Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.S827Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	831					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.S831Y(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTTTAGTTCTCTACATGGA	0.308000													8	85					0.00307968	0.00327149	1	1	0
TPRA1	131601	broad.mit.edu	37	3	127292397	127292397	+	Silent	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:127292397T>A	ENST00000355552.3	-	11	1465	c.1089A>T	c.(1087-1089)acA>acT	p.T363T	TPRA1_ENST00000296210.7_3'UTR|TPRA1_ENST00000489960.1_Silent_p.T363T|TPRA1_ENST00000450633.2_Silent_p.T363T	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	363					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCTCGCTGTCTGTGCTGTTGA	0.657000													7	130					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23180432	23180432	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:23180432G>A	ENST00000322231.7	+	6	911	c.421G>A	c.(421-423)Gca>Aca	p.A141T	KLHL7_ENST00000339077.4_Missense_Mutation_p.A163T|KLHL7_ENST00000545443.1_Missense_Mutation_p.A141T|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.A115T|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.A87T			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	163						Golgi apparatus|nucleolus|plasma membrane		p.A163T(1)|p.A141T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAATTGAAAGCAACTGCAGA	0.333000													17	99					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53574724	53574724	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:53574724C>A	ENST00000342160.3	-	67	11003	c.10546G>T	c.(10546-10548)Gcc>Tcc	p.A3516S	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.A3516S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3516	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.A3516S(1)|p.A3406S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCAACCAGGGCTGGAGCAGAA	0.592000													7	9					0.00198382	0.00211837	1	1	0
HSD3B2	3284	broad.mit.edu	37	1	119958100	119958100	+	Missense_Mutation	SNP	C	C	T	rs139191056		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:119958100C>T	ENST00000543831.1	+	2	307	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.R20C|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	20					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.R20C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GAGGATCGTCCGCCTGTTGGT	0.517000													21	168					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364690	29364690	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29364690T>C	ENST00000383555.2	+	1	275	c.214T>C	c.(214-216)Tct>Cct	p.S72P	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TATCTGTTACTCTACGGTGAC	0.448000													36	127					0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51385987	51385987	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:51385987G>A	ENST00000394904.3	-	13	1469	c.1420C>T	c.(1420-1422)Cta>Tta	p.L474L	SLC11A2_ENST00000262051.7_Silent_p.L445L|SLC11A2_ENST00000547688.1_Silent_p.L474L|SLC11A2_ENST00000262052.5_Silent_p.L445L|SLC11A2_ENST00000547198.1_Silent_p.L445L|SLC11A2_ENST00000545993.2_Silent_p.L441L|SLC11A2_ENST00000541174.2_Silent_p.L445L|SLC11A2_ENST00000546743.1_Silent_p.L366L	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	445					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	p.L445L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AAGCTCTGTAGAACATTCAGA	0.473000													11	209					0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183589	99183589	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:99183589T>C	ENST00000325812.2	+	4	775	c.356T>C	c.(355-357)gTa>gCa	p.V119A		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	119								p.V119A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAAGGAACTGTAGAACAGATG	0.408000													12	83					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057504	46057504	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:46057504G>T	ENST00000380095.1	+	1	232	c.170G>T	c.(169-171)tGt>tTt	p.C57F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	57	15 X 5 AA repeats of C-C-X(3).					keratin filament		p.C57F(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CAGACGGCCTGTGAGCCCAGC	0.667000													31	190					1.45844e-13	2.32743e-13	1	1	0
RNF133	168433	broad.mit.edu	37	7	122338605	122338605	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:122338605C>G	ENST00000340112.2	-	1	605	c.368G>C	c.(367-369)gGa>gCa	p.G123A	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	123	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.G123A(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCACTGGCTCCCTTCTCAGT	0.458000													49	206					0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104245439	104245439	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:104245439G>A	ENST00000369905.4	-	5	430	c.367C>T	c.(367-369)Cga>Tga	p.R123*	ACTR1A_ENST00000545684.1_Nonsense_Mutation_p.R49*|ACTR1A_ENST00000446605.2_Nonsense_Mutation_p.R76*|ACTR1A_ENST00000487599.1_Nonsense_Mutation_p.R123*	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	123					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCGGCAGCTCGTTCCCGGTTT	0.557000													10	383					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366002	21366002	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:21366002G>C	ENST00000311048.7	+	5	1040	c.896G>C	c.(895-897)cGg>cCg	p.R299P	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R299P(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCCTTCAACCGGTCCTCACAC	0.408000													16	133					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52943891	52943891	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:52943891T>C	ENST00000267119.5	-	2	647	c.578A>G	c.(577-579)gAg>gGg	p.E193G		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	193	Coil 1B.|Rod.						structural molecule activity	p.E193G(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		AGACAGCGTCTCCAGCTGCTT	0.602000													38	334					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57695812	57695812	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:57695812C>G	ENST00000562631.1	+	13	2400	c.1868C>G	c.(1867-1869)tCc>tGc	p.S623C	GPR56_ENST00000379694.4_Missense_Mutation_p.S459C|GPR56_ENST00000538815.1_Missense_Mutation_p.S623C|GPR56_ENST00000456916.1_Missense_Mutation_p.S629C|GPR56_ENST00000388812.4_Missense_Mutation_p.S629C|GPR56_ENST00000388813.5_Missense_Mutation_p.S623C|GPR56_ENST00000568909.1_Missense_Mutation_p.S629C|GPR56_ENST00000544297.1_Missense_Mutation_p.S448C|GPR56_ENST00000567835.1_Missense_Mutation_p.S629C|GPR56_ENST00000379696.3_Missense_Mutation_p.S629C|GPR56_ENST00000568908.1_Missense_Mutation_p.S623C|GPR56_ENST00000562558.1_Missense_Mutation_p.S623C|GPR56_ENST00000540164.2_Missense_Mutation_p.S623C			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	629					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	p.S629C(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCTTCTTCTCCTTTGCTTCT	0.592000													13	140					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36888510	36888510	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:36888510C>A	ENST00000451493.1	-	6	1554	c.1337G>T	c.(1336-1338)gGt>gTt	p.G446V	SPG20_ENST00000438666.2_Missense_Mutation_p.G446V|SPG20_ENST00000355182.4_Missense_Mutation_p.G446V|SPG20_ENST00000494062.2_Missense_Mutation_p.G446V	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	446					cell death	cytoplasm	ubiquitin protein ligase binding	p.G446V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		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;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GATTGCCTTACCAGTAATCTC	0.403000													24	188					4.87955e-14	7.83792e-14	1	1	0
OR6S1	341799	broad.mit.edu	37	14	21109500	21109500	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:21109500C>T	ENST00000320704.3	-	1	350	c.351G>A	c.(349-351)ttG>ttA	p.L117L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L117L(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		ACATGACAGCCAACAGTAAGA	0.517000													16	111					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513224	70513224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:70513224C>A	ENST00000503640.1	-	1	194	c.139G>T	c.(139-141)Gag>Tag	p.E47*	UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.E47*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.E47*|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.E47*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	47					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACATTATGCTCCTTTTTAATG	0.403000													15	86					2.48551e-13	3.93325e-13	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36841717	36841717	+	Silent	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:36841717A>T	ENST00000279024.4	-	14	3601	c.3330T>A	c.(3328-3330)ccT>ccA	p.P1110P		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1110								p.P1110P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGGGGGCCCAGGAGGCCAAT	0.602000													13	43					0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49796245	49796245	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:49796245C>T	ENST00000218721.1	+	2	971	c.971C>T	c.(970-972)aCg>aTg	p.T324M	MLNR_ENST00000398307.1_Silent_p.H374H	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	324					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TACATAAACACGGAAGATTCG	0.448000													10	326					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148791089	148791089	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:148791089T>A	ENST00000310053.5	-	5	743	c.550A>T	c.(550-552)Agt>Tgt	p.S184C	HLTF_ENST00000494055.1_Missense_Mutation_p.S184C|HLTF_ENST00000465259.1_Missense_Mutation_p.S184C|HLTF_ENST00000392912.2_Missense_Mutation_p.S184C	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	184					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.S184C(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCCCAACCACTTTCCAAATTG	0.338000													6	83					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237406078	237406078	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:237406078C>A	ENST00000409907.3	-	2	338	c.64G>T	c.(64-66)Gat>Tat	p.D22Y	IQCA1_ENST00000309507.5_Missense_Mutation_p.D18Y|IQCA1_ENST00000431676.2_Missense_Mutation_p.D22Y			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	22							ATP binding	p.D22Y(1)|p.D29Y(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GGCTCTTTATCGAGTAAAGCA	0.373000													3	36					0.014758	0.0152742	1	1	0
OR4P4	81300	broad.mit.edu	37	11	55406188	55406188	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:55406188G>T	ENST00000314612.2	+	1	355	c.355G>T	c.(355-357)Gac>Tac	p.D119Y		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D119Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATGGCCTATGACCGCTATGT	0.403000													36	143					1.36161e-19	2.46254e-19	1	1	0
ATP4A	495	broad.mit.edu	37	19	36050770	36050770	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:36050770G>A	ENST00000262623.3	-	7	1021	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	331					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A331A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGAAGACCATGGCCCGCAGGA	0.587000													18	133					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165723087	165723087	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:165723087C>A	ENST00000230301.8	-	0	9					NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118											breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCTTCCTTCCCTCCAGCTGCC	0.587000													4	65					0.150653	0.152642	1	1	0
SPEG	10290	broad.mit.edu	37	2	220352934	220352934	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:220352934A>T	ENST00000312358.7	+	32	7892	c.7760A>T	c.(7759-7761)cAc>cTc	p.H2587L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2587	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.H2587L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCAGTCTTCCACATCAAACTC	0.612000													37	192					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251586	160251586	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:160251586C>G	ENST00000264431.4	+	7	1339	c.920C>G	c.(919-921)tCt>tGt	p.S307C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	307	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.S295C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACTTTTCTTTCTAGCCCAATG	0.383000													25	149					0	0	1	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90121688	90121688	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:90121688G>T	ENST00000483379.1	+	0	212																											TCAGCTCCTGGGGCTCCTGCT	0.517000													21	208					2.50493e-22	4.67131e-22	1	1	0
CRYBB1	1414	broad.mit.edu	37	22	26995455	26995455	+	Silent	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:26995455C>T	ENST00000215939.2	-	6	888	c.758G>A	c.(757-759)tGa>tAa	p.*253*		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	0					visual perception		structural constituent of eye lens	p.*253*(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GGTGTGGACTCACTTGGGGGG	0.542000													17	147					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246880	57246880	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:57246880G>T	ENST00000607273.1	+	7	694	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	203					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGTCTATTTGGAAGATGGCTT	0.398000													11	96					0.000978159	0.00105738	1	1	0
HPS1	3257	broad.mit.edu	37	10	100182214	100182214	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:100182214C>A	ENST00000325103.6	-	17	1888	c.1655G>T	c.(1654-1656)gGg>gTg	p.G552V	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.G552V	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	552					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.G552V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CACCATCTGCCCAGTGGTGCG	0.547000									Hermansky-Pudlak syndrome				56	247					1.53582e-20	2.81072e-20	1	1	0
RYR2	6262	broad.mit.edu	37	1	237774140	237774140	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:237774140G>T	ENST00000366574.2	+	36	5079	c.4762G>T	c.(4762-4764)Gtg>Ttg	p.V1588L	RYR2_ENST00000542537.1_Missense_Mutation_p.V1572L|RYR2_ENST00000360064.6_Missense_Mutation_p.V1586L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1588	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1586L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGCCTCCACGTGCAGTTCCT	0.562000													13	23					9.05144e-12	1.36132e-11	1	1	0
HADHB	3032	broad.mit.edu	37	2	26502894	26502894	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:26502894C>T	ENST00000317799.5	+	10	948	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.R159C|HADHB_ENST00000545822.1_Missense_Mutation_p.R260C|HADHB_ENST00000537713.1_Missense_Mutation_p.R267C	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	282					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	p.R282C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATGGCATCCGTCCTTCCTC	0.383000													33	115					0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35679974	35679974	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:35679974C>T	ENST00000216106.5	+	6	1363	c.1235C>T	c.(1234-1236)tCg>tTg	p.S412L	HMGXB4_ENST00000444518.2_Missense_Mutation_p.S303L	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	412					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	p.S412L(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAACATGTCGGCCTACCAG	0.418000													16	111					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433496	4433496	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:4433496G>T	ENST00000301280.5	+	13	2734	c.2633G>T	c.(2632-2634)tGc>tTc	p.C878F		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	878	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.C878F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCATGTGCATCACCCAA	0.612000								Chromatin Structure					23	103					1.03073e-24	1.96849e-24	1	1	0
FGF14	2259	broad.mit.edu	37	13	102375185	102375185	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:102375185G>C	ENST00000376131.4	-	5	850	c.755C>G	c.(754-756)aCa>aGa	p.T252R	ITGBL1_ENST00000415285.1_Intron|FGF14_ENST00000376143.4_Missense_Mutation_p.T247R	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	247					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T252R(1)|p.T247R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCTGGCTATGTTGTCTTACT	0.502000													22	74					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	86802403	86802403	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:86802403G>T	ENST00000340353.7	+	4	564		c.e4-1		TMEM135_ENST00000355734.4_Splice_Site|TMEM135_ENST00000535167.1_Intron|TMEM135_ENST00000305494.5_Splice_Site|TMEM135_ENST00000532959.1_Intron	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135							integral to membrane		p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTATTTGCAGGAGAGGGCTG	0.269000													18	44					7.87624e-14	1.26349e-13	1	1	0
PRTG	283659	broad.mit.edu	37	15	56032678	56032678	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:56032678C>A	ENST00000389286.4	-	2	346	c.299G>T	c.(298-300)gGc>gTc	p.G100V	PRTG_ENST00000561292.1_Missense_Mutation_p.G100V	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	100	Ig-like 1.				multicellular organismal development	integral to membrane		p.G100V(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCCTCGCCTGCCTTCCACCTC	0.413000													94	298					1.52783e-54	3.22366e-54	1	1	0
ISM1	140862	broad.mit.edu	37	20	13260326	13260326	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:13260326G>A	ENST00000262487.3	+	3	430	c.424G>A	c.(424-426)Gat>Aat	p.D142N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	142						extracellular region		p.D142N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AGCAGATAAAGATCAGCATCC	0.587000													11	60					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76532502	76532502	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:76532502T>A	ENST00000429927.2	-	4	1110	c.407A>T	c.(406-408)cAg>cTg	p.Q136L	CDKL2_ENST00000307465.4_Missense_Mutation_p.Q136L	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	136	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.Q136L(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AACGCCAGACTGGGAGACTAA	0.428000													15	90					0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70810635	70810635	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:70810635A>T	ENST00000246891.4	+	15	519	c.470A>T	c.(469-471)cAg>cTg	p.Q157L	CSN1S1_ENST00000505782.1_Missense_Mutation_p.Q141L|CSN1S1_ENST00000444405.3_Missense_Mutation_p.Q148L|CSN1S1_ENST00000507772.1_Missense_Mutation_p.Q149L|CSN1S1_ENST00000507763.1_Missense_Mutation_p.Q148L	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	157						extracellular region	protein binding|transporter activity	p.Q157L(1)		lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAATCATGCAGTATGTTCCT	0.418000													58	376					0	0	1	0	0
ATF2	1386	broad.mit.edu	37	2	175986270	175986270	+	Splice_Site	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:175986270T>A	ENST00000264110.2	-	5	401		c.e5-2		ATF2_ENST00000345739.5_Intron|ATF2_ENST00000409635.1_Intron|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000487334.2_Splice_Site|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Splice_Site|ATF2_ENST00000426833.3_Splice_Site	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.?(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			GGTAAAACGCTGTGGCAAAAA	0.333000													12	64					0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970994	57970994	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57970994G>C	ENST00000302592.6	-	1	659	c.660C>G	c.(658-660)atC>atG	p.I220M		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I220M(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGGGGAAGATGATAACTGATA	0.448000													29	102					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404216	59404216	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:59404216G>T	ENST00000301645.3	-	6	1470	c.1333C>A	c.(1333-1335)Cct>Act	p.P445T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	445					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.P445T(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATCTTCCAGGACATATTGTA	0.388000									Neonatal Giant Cell Hepatitis				17	201					5.03518e-11	7.44516e-11	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													15	139					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856977	90856977	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:90856977C>A	ENST00000394980.1	+	7	2465	c.2146C>A	c.(2146-2148)Cgt>Agt	p.R716S	MMRN1_ENST00000264790.2_Missense_Mutation_p.R716S|MMRN1_ENST00000508372.1_Missense_Mutation_p.R458S|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	716					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.R716S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTAGAAAGACGTATCAATGA	0.313000													9	85					7.48243e-07	9.33783e-07	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463558	25463558	+	RNA	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25463558G>A	ENST00000424208.1	+	0	2869				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CATGGAGGGTGGTCACATGTT	0.562000													6	14					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17428936	17428936	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:17428936C>A	ENST00000302539.4	-	24	3013	c.2888G>T	c.(2887-2889)aGg>aTg	p.R963M	ABCC8_ENST00000389817.3_Missense_Mutation_p.R962M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	962					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	p.R962M(1)		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)	AAGGCCATCCCTCGAGGACAT	0.547000													22	155					1.10923e-09	1.54262e-09	1	1	0
ABCA1	19	broad.mit.edu	37	9	107591340	107591340	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:107591340C>G	ENST00000374736.3	-	15	2366	c.1972G>C	c.(1972-1974)Ggc>Cgc	p.G658R	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	658					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.G658R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TACACGATGCCCTTGATGATC	0.547000													19	88					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735780	172735780	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:172735780G>T	ENST00000506823.1	+	2	706	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	GALNTL6_ENST00000511251.1_Missense_Mutation_p.V17L	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	17						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V17L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GTTGTTCACGGTGGCTTTAAT	0.478000													23	95					5.35356e-11	7.8969e-11	1	1	0
CASS4	57091	broad.mit.edu	37	20	55033677	55033677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:55033677G>T	ENST00000371336.3	+	6	2436	c.2235G>T	c.(2233-2235)aaG>aaT	p.K745N	CASS4_ENST00000360314.3_Missense_Mutation_p.K745N|CASS4_ENST00000434344.1_Missense_Mutation_p.K308N	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	745					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCCTGCTCAAGGACGTAGCGC	0.647000													4	89					8.12818e-05	9.18253e-05	1	1	0
CPS1	1373	broad.mit.edu	37	2	211464252	211464252	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:211464252C>A	ENST00000233072.5	+	14	1712	c.1516C>A	c.(1516-1518)Ctg>Atg	p.L506M	CPS1_ENST00000451903.2_Missense_Mutation_p.L55M|CPS1_ENST00000430249.2_Missense_Mutation_p.L512M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	506					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.L512M(1)|p.L506M(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGGTTAATTCTGGGCATGGG	0.448000													32	130					1.74807e-11	2.6083e-11	1	1	0
SLC9A6	10479	broad.mit.edu	37	X	135112295	135112295	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:135112295G>T	ENST00000370695.4	+	13	1656	c.1621G>T	c.(1621-1623)Ggt>Tgt	p.G541C	SLC9A6_ENST00000370698.3_Missense_Mutation_p.G509C|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G489C	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	509					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.G509C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTTAGGGTTGGTGTTGATTC	0.363000													103	50					1.38358e-46	2.90433e-46	1	1	0
GPR22	2845	broad.mit.edu	37	7	107114721	107114721	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:107114721A>T	ENST00000304402.4	+	3	1559	c.216A>T	c.(214-216)ttA>ttT	p.L72F	COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	72						integral to plasma membrane	G-protein coupled receptor activity	p.L72F(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AATCCAACTTAATCAACTCTG	0.358000													30	218					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62582842	62582842	+	Silent	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:62582842C>G	ENST00000371158.2	+	37	4956	c.4842C>G	c.(4840-4842)ctC>ctG	p.L1614L	INADL_ENST00000543708.1_Silent_p.L428L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1614	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.L1614L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGGAAGACTCCGAGCTGGTT	0.473000													10	87					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92258014	92258014	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:92258014G>T	ENST00000298047.6	+	2	3524	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	FAT3_ENST00000525166.1_Missense_Mutation_p.Q1019H|FAT3_ENST00000409404.2_Missense_Mutation_p.Q1169H|FAT3_ENST00000541502.1_Missense_Mutation_p.Q1169H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1169	Cadherin 11.				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)				CTGTCATTCAGATCCAGGCTG	0.398000										TCGA Ovarian(4;0.039)			7	75					1.12685e-05	1.33376e-05	1	1	0
TLR4	7099	broad.mit.edu	37	9	120474737	120474737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:120474737G>T	ENST00000355622.6	+	3	432	c.331G>T	c.(331-333)Gga>Tga	p.G111*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.G71*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	111					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.G111*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AATATTGACAGGAAACCCCAT	0.428000													9	62					0.000442599	0.000485495	1	1	0
ELP5	23587	broad.mit.edu	37	17	7158125	7158125	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:7158125G>A	ENST00000573657.1	+	4	587	c.460G>A	c.(460-462)Gag>Aag	p.E154K	RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000574255.1_Missense_Mutation_p.E154K|ELP5_ENST00000396628.2_Intron|ELP5_ENST00000354429.2_Intron|ELP5_ENST00000396627.2_Intron|ELP5_ENST00000356683.2_Intron|ELP5_ENST00000574993.1_Intron					elongator acetyltransferase complex subunit 5									p.?(2)									TTGTCCTGGTGAGACCCCTCC	0.532000													9	54					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625811	43625811	+	RNA	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:43625811G>T	ENST00000586348.1	+	0	45																											GTCCTCTTCGGGGCTGTAGAA	0.512000													37	771					5.43694e-19	9.71136e-19	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8524977	8524977	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:8524977G>T	ENST00000381196.4	-	15	1170	c.627C>A	c.(625-627)gcC>gcA	p.A209A	PTPRD_ENST00000397611.3_Silent_p.A206A|PTPRD_ENST00000486161.1_Silent_p.A209A|PTPRD_ENST00000397617.3_Silent_p.A203A|PTPRD_ENST00000540109.1_Silent_p.A209A|PTPRD_ENST00000355233.5_Silent_p.A209A|PTPRD_ENST00000358503.5_Silent_p.A200A|PTPRD_ENST00000360074.4_Silent_p.A200A|PTPRD_ENST00000397606.3_Silent_p.A203A|PTPRD_ENST00000537002.1_Silent_p.A206A|PTPRD_ENST00000356435.5_Silent_p.A209A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	209	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A209A(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGCTGTTGGTGGCAACACACT	0.468000										TSP Lung(15;0.13)			33	440					3.90053e-15	6.47714e-15	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125113558	125113558	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:125113558C>A	ENST00000522917.1	+	38	5310	c.5104C>A	c.(5104-5106)Ctg>Atg	p.L1702M	FER1L6_ENST00000399018.1_Missense_Mutation_p.L1702M|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1702	C2 6.					integral to membrane		p.L1702M(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTGAAAGGCTGTCCTCAGA	0.443000													10	81					2.80697e-09	3.83849e-09	1	1	0
CD177	57126	broad.mit.edu	37	19	43859777	43859777	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:43859777C>A	ENST00000378009.4	+	0	421				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCAGTGCCCTCTCAGTGCCCC	0.557000													30	97					4.74835e-14	7.63217e-14	1	1	0
TRPM8	79054	broad.mit.edu	37	2	234835272	234835272	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:234835272G>T	ENST00000324695.4	+	2	130	c.90G>T	c.(88-90)cgG>cgT	p.R30R	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	30						integral to membrane		p.R30R(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCGCGTCTCGGAGCACAGACT	0.502000													17	70					6.94344e-10	9.73906e-10	1	1	0
ATG2B	55102	broad.mit.edu	37	14	96781496	96781496	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:96781496C>G	ENST00000359933.4	-	23	4530	c.3637G>C	c.(3637-3639)Gag>Cag	p.E1213Q		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1213								p.E1213Q(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTTACCTGCTCATGCCAGCTA	0.363000													7	57					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955042	141955042	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:141955042T>A	ENST00000552471.1	-	3	588	c.269A>T	c.(268-270)cAt>cTt	p.H90L	PRSS58_ENST00000547058.2_Missense_Mutation_p.H90L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.H90L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GAAGTGTGGATGATGAATCAT	0.418000													13	169					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113234499	113234499	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:113234499G>T	ENST00000401783.2	-	15	3040	c.2704C>A	c.(2704-2706)Cgg>Agg	p.R902R	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.R879R|SVEP1_ENST00000302728.8_Silent_p.R902R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	902					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.R902W(1)|p.R902R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTTTAATCCGTGAGGACTTG	0.403000													47	266					9.40368e-32	1.89618e-31	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71359879	71359879	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:71359879C>A	ENST00000373677.1	+	2	2645	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	NHSL2_ENST00000510661.1_Missense_Mutation_p.D596E|NHSL2_ENST00000540800.1_Missense_Mutation_p.D827E|NHSL2_ENST00000535692.1_Missense_Mutation_p.D461E			F5H593	F5H593_HUMAN	NHS-like 2	827										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CTCAGTCCGACCTACGTTCTG	0.517000													5	19					0.0215528	0.0221851	1	1	0
RAB17	64284	broad.mit.edu	37	2	238484048	238484048	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:238484048C>T	ENST00000264601.3	-	5	1140	c.511G>A	c.(511-513)Gag>Aag	p.E171K	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Missense_Mutation_p.E44K|RAB17_ENST00000538644.1_Missense_Mutation_p.E44K	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	171					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TTGAACACCTCCGACACCTGG	0.557000													5	43					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807396	3807396	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:3807396G>A	ENST00000361605.3	-	3	453	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	119								p.L119F(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567000													9	86					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72218757	72218757	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:72218757G>T	ENST00000269346.4	+	2	337	c.263G>T	c.(262-264)tGc>tTc	p.C88F	TTYH2_ENST00000529107.1_Missense_Mutation_p.C67F	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	88						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.C88F(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CACTCCTGCTGCATCACCTGG	0.642000													6	136					0.00198382	0.00211837	1	1	0
USH2A	7399	broad.mit.edu	37	1	216370014	216370014	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:216370014G>C	ENST00000366943.2	-	19	4518	c.4132C>G	c.(4132-4134)Ctc>Gtc	p.L1378V	USH2A_ENST00000307340.3_Missense_Mutation_p.L1378V|USH2A_ENST00000366942.3_Missense_Mutation_p.L1378V|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1378	Fibronectin type-III 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L1378V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGATATTGAGAGAGTACGAA	0.403000										HNSCC(13;0.011)			9	78					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887540	23887540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:23887540C>A	ENST00000355349.3	-	30	4210	c.4048G>T	c.(4048-4050)Gag>Tag	p.E1350*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1350					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCCGTCTCCTCCTCGTAC	0.677000													21	135					1.2644e-06	1.55814e-06	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77669711	77669711	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:77669711C>A	ENST00000407578.2	-	58	10247	c.9981G>T	c.(9979-9981)atG>atT	p.M3327I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3289I|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M3289I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.M3289I(1)|p.M3327I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCTTGACTTGCATTGGTTTTC	0.428000													38	107					3.09479e-21	5.69775e-21	1	1	0
SERPINB7	8710	broad.mit.edu	37	18	61471509	61471509	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:61471509G>C	ENST00000398019.2	+	8	1108	c.783G>C	c.(781-783)tgG>tgC	p.W261C	SERPINB7_ENST00000546027.1_Missense_Mutation_p.W261C|SERPINB7_ENST00000540675.1_Missense_Mutation_p.W244C|SERPINB7_ENST00000336429.2_Missense_Mutation_p.W261C	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	261					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.W261C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAATGGAATGGACCAATCCAA	0.323000													10	91					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234394426	234394426	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:234394426G>T	ENST00000251722.6	-	29	3509	c.3392C>A	c.(3391-3393)cCg>cAg	p.P1131Q	USP40_ENST00000427112.2_Missense_Mutation_p.P1131Q|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Missense_Mutation_p.P1143Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1131					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GCTAGATATCGGAAGCCACTC	0.468000													5	38					0.00198382	0.00211837	1	1	0
GAPVD1	26130	broad.mit.edu	37	9	128061359	128061359	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:128061359C>A	ENST00000470056.1	+	2	319	c.159C>A	c.(157-159)atC>atA	p.I53I	GAPVD1_ENST00000394083.2_Silent_p.I53I|GAPVD1_ENST00000394105.2_Silent_p.I53I|GAPVD1_ENST00000265956.4_Silent_p.I53I|GAPVD1_ENST00000297933.6_Silent_p.I53I|GAPVD1_ENST00000312123.9_Silent_p.I53I|GAPVD1_ENST00000495955.1_Silent_p.I53I|GAPVD1_ENST00000394084.1_Silent_p.I53I|GAPVD1_ENST00000394104.2_Silent_p.I53I			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	53					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.I53I(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACAGAGAATCAATTTGGATC	0.348000													12	109					4.3838e-07	5.52985e-07	1	1	0
NALCN	259232	broad.mit.edu	37	13	102029341	102029341	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:102029341G>T	ENST00000251127.6	-	5	523	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.L148M|NALCN_ENST00000376200.5_Missense_Mutation_p.L148M	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	148						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.L148M(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATCATAATCAGTGGCCGTGGA	0.393000													9	104					2.17888e-05	2.53377e-05	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29293581	29293581	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:29293581C>T	ENST00000331664.5	-	1	3546	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1183					response to stimulus|visual perception	photoreceptor outer segment		p.A1183T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTTGAGGGCACACAGAGCT	0.642000													26	101					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25940272	25940272	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25940272C>A	ENST00000356865.6	-	14	2893	c.2782G>T	c.(2782-2784)Gac>Tac	p.D928Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	928					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D928Y(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCACTGGTCTAGCAGGGCT	0.597000													20	160					1.2644e-06	1.55814e-06	1	1	0
TENM1	10178	broad.mit.edu	37	X	124028144	124028144	+	Splice_Site	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:124028144C>T	ENST00000422452.2	-	3	599		c.e3+1		TENM1_ENST00000371130.3_Splice_Site	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAAACACTTGCCTTGAGTAGA	0.418000													4	51					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76793254	76793254	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:76793254G>T	ENST00000286719.7	-	13	1929	c.1573C>A	c.(1573-1575)Ctg>Atg	p.L525M		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	525	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.L525M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCTGGCCCCAGTTTGACATAG	0.458000													17	96					6.94344e-10	9.73906e-10	1	1	0
MED12L	116931	broad.mit.edu	37	3	151134202	151134202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:151134202C>T	ENST00000474524.1	+	41	6333	c.6295C>T	c.(6295-6297)Cag>Tag	p.Q2099*	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2099	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCCCCAGCAGCCCTTGGT	0.542000													17	114					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34667733	34667733	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:34667733G>T	ENST00000488417.1	+	4	1439	c.1319G>T	c.(1318-1320)gGg>gTg	p.G440V	C1orf94_ENST00000373374.3_Missense_Mutation_p.G250V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	250							protein binding	p.G250V(1)|p.G440V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AAGTACACAGGGAATGTTTTC	0.542000													9	109					2.52707e-12	3.8961e-12	1	1	0
TMCO5A	145942	broad.mit.edu	37	15	38229100	38229100	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:38229100G>A	ENST00000558158.1	+	4	347	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMCO5A_ENST00000559502.1_Missense_Mutation_p.E65K|TMCO5A_ENST00000319669.4_Missense_Mutation_p.E65K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E65K			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	65						integral to membrane		p.E65K(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGAAGAGTGGGAGAAGGAGAA	0.522000													19	36					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162469	48162469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:48162469G>T	ENST00000311303.3	-	9	1761	c.1416C>A	c.(1414-1416)taC>taA	p.Y472*	ABCC12_ENST00000416054.1_Nonsense_Mutation_p.Y472*|ABCC12_ENST00000448542.1_Nonsense_Mutation_p.Y472*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	472	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Y472*(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCTCTCACTGTATGCCTCTG	0.507000													16	158					1.15088e-07	1.48142e-07	1	1	0
FBXO21	23014	broad.mit.edu	37	12	117593705	117593705	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:117593705C>A	ENST00000427718.2	-	11	1640	c.1566G>T	c.(1564-1566)atG>atT	p.M522I	FBXO21_ENST00000330622.5_Missense_Mutation_p.M529I	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	529					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.M529I(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACTCGTGTCCCATCATGCAGG	0.587000											OREG0022166	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	126					1.45105e-14	2.36954e-14	1	1	0
OPRK1	4986	broad.mit.edu	37	8	54163343	54163343	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:54163343G>T	ENST00000265572.3	-	2	552	c.255C>A	c.(253-255)atC>atA	p.I85I	OPRK1_ENST00000520287.1_Silent_p.I85I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	85					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GCGCTCACCGGATGATCACGA	0.687000													12	68					9.05144e-12	1.36132e-11	1	1	0
LCA5	167691	broad.mit.edu	37	6	80197277	80197277	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:80197277T>A	ENST00000392959.1	-	9	2149	c.1538A>T	c.(1537-1539)gAa>gTa	p.E513V	LCA5_ENST00000369846.4_Missense_Mutation_p.E513V	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	513					protein transport	cilium axoneme|microtubule basal body	protein binding	p.E513V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTCTGAGGATTCAGAGAACCT	0.398000													15	236					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793116	36793116	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:36793116G>T	ENST00000399881.3	+	27	3165	c.3128G>T	c.(3127-3129)tGt>tTt	p.C1043F		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1043						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.C1043F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCACTGCTTGTTATAAAAGG	0.413000													40	160					2.95478e-19	5.29703e-19	1	1	0
MST1	4485	broad.mit.edu	37	3	49725033	49725033	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:49725033G>T	ENST00000449682.2	-	3	672	c.311C>A	c.(310-312)aCg>aAg	p.T104K	MST1_ENST00000383728.3_Missense_Mutation_p.T29K|MST1_ENST00000545762.1_Missense_Mutation_p.T90K|MST1_ENST00000494828.2_5'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	90	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity	p.T90K(1)		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)		CCGCAGCCTCGTGTGGGGCGA	0.612000													18	91					8.28177e-16	1.39315e-15	1	1	0
SOX21	11166	broad.mit.edu	37	13	95364147	95364147	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:95364147C>A	ENST00000376945.2	-	1	242	c.157G>T	c.(157-159)Gag>Tag	p.E53*		NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	53					regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.E53*(1)		large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GGCCGCTTCTCCGACTCTGTG	0.637000													18	198					1.2644e-06	1.55814e-06	1	1	0
UQCR11	10975	broad.mit.edu	37	19	1599497	1599497	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:1599497C>A	ENST00000262946.4	-	2	187	c.113G>T	c.(112-114)tGg>tTg	p.W38L	UQCR11_ENST00000585671.1_Missense_Mutation_p.W38L|UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000589880.1_Missense_Mutation_p.W38L|UQCR11_ENST00000591899.3_Missense_Mutation_p.W38L	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	38					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity	p.W38L(1)		breast(1)|lung(2)|ovary(1)|prostate(1)	5						GATCAGCCGCCAATCGGTGGC	0.572000													25	147					4.22769e-11	6.27006e-11	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10391822	10391822	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:10391822G>A	ENST00000397077.1	-	15	2818	c.2243C>T	c.(2242-2244)cCa>cTa	p.P748L	ATP2B2_ENST00000383800.4_Missense_Mutation_p.P748L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.P779L|ATP2B2_ENST00000352432.4_Missense_Mutation_p.P793L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.P793L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	793					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.P793L(1)|p.P748L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTTGTCCGTTGGGGAGGAGCG	0.632000													20	66					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304252	4304252	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:4304252G>T	ENST00000337872.4	+	3	810	c.689G>T	c.(688-690)gGt>gTt	p.G230V	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.G230V	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G230V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CACGCAGCTGGTCCCAGTCAG	0.468000													20	144					3.51602e-12	5.39371e-12	1	1	0
LMOD2	442721	broad.mit.edu	37	7	123302840	123302840	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:123302840C>A	ENST00000458573.2	+	2	1357	c.1200C>A	c.(1198-1200)tcC>tcA	p.S400S	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	400	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding	p.P401T(1)									CCTGGTCATCCCCAAAACTCC	0.562000													8	91					0.000157383	0.000176097	1	1	0
SLC6A5	9152	broad.mit.edu	37	11	20673895	20673895	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:20673895C>A	ENST00000525748.1	+	15	2404	c.2131C>A	c.(2131-2133)Cct>Act	p.P711T	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	711					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P711N(1)		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)	TTACCGCTATCCTAACTGGTC	0.488000													31	168					3.99451e-17	6.91856e-17	1	1	0
OR1S2	219958	broad.mit.edu	37	11	57970964	57970964	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:57970964G>T	ENST00000302592.6	-	1	689	c.690C>A	c.(688-690)tcC>tcA	p.S230S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TGCAGACATAGGAGAAGAAGA	0.433000													13	103					1.01871e-10	1.48045e-10	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25438363	25438363	+	RNA	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:25438363C>A	ENST00000424208.1	+	0	1222				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						CCCTGGTGCACTGAAGATTGG	0.597000													23	89					1.50039e-11	2.24146e-11	1	1	0
HCK	3055	broad.mit.edu	37	20	30659585	30659585	+	Splice_Site	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:30659585G>A	ENST00000534862.1	+	3	486	c.123_splice	c.e3+1	p.P41_splice	HCK_ENST00000375852.2_Splice_Site_p.P61_splice|HCK_ENST00000538448.1_Splice_Site_p.P40_splice|HCK_ENST00000375862.2_Splice_Site_p.P61_splice|HCK_ENST00000520553.1_Splice_Site_p.P40_splice|HCK_ENST00000518730.1_Splice_Site_p.P40_splice	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	61					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P40P(1)|p.P61P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCATCAAGCCGGTGAGTAGGG	0.582000													18	80					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52861840	52861840	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:52861840G>A	ENST00000371568.3	-	5	817	c.599C>T	c.(598-600)cCt>cTt	p.P200L	ORC1_ENST00000371566.1_Missense_Mutation_p.P200L	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	200					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGTCCAAGAAGGGCTCTCTGC	0.517000													6	154					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206617571	206617571	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:206617571A>T	ENST00000360409.3	+	12	2707	c.1916A>T	c.(1915-1917)cAg>cTg	p.Q639L	NRP2_ENST00000540178.1_Missense_Mutation_p.Q639L|NRP2_ENST00000357118.4_Missense_Mutation_p.Q639L|NRP2_ENST00000412873.2_Missense_Mutation_p.Q639L|NRP2_ENST00000272849.3_Missense_Mutation_p.Q639L|NRP2_ENST00000357785.5_Missense_Mutation_p.Q639L|NRP2_ENST00000540841.1_Missense_Mutation_p.Q639L	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	639					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.Q639L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AAAGATTTGCAGCTCCCTTCG	0.493000													4	62					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	511444	511444	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:511444G>T	ENST00000262305.4	+	2	1143	c.755G>T	c.(754-756)gGc>gTc	p.G252V	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.G252V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	252	EF-hand 2.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.G252V(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGTGGGCTCGGCGTGATCAGC	0.532000													16	218					1.78486e-19	3.2091e-19	1	1	0
TEX10	54881	broad.mit.edu	37	9	103092305	103092305	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:103092305T>A	ENST00000374902.4	-	6	1573	c.1397A>T	c.(1396-1398)gAg>gTg	p.E466V	TEX10_ENST00000535814.1_Missense_Mutation_p.E469V|TEX10_ENST00000537512.1_Missense_Mutation_p.E401V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	466						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	p.E466V(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCAAGGGTCTCTGTTACAAA	0.418000													29	153					0	0	1	0	0
ZNF134	7693	broad.mit.edu	37	19	58132534	58132534	+	Missense_Mutation	SNP	C	C	G	rs34357677	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:58132534C>G	ENST00000396161.5	+	3	1357	c.1047C>G	c.(1045-1047)tgC>tgG	p.C349W		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	349						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C349W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCATTGAATGCGGGAAATTCT	0.423000													33	251					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839671	128839671	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:128839671C>A	ENST00000310343.9	-	22	5394	c.5395G>T	c.(5395-5397)Ggg>Tgg	p.G1799W	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1450W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1450W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1799	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.G1450W(1)|p.G1799W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCAGTTTTCCCAGGATCTGAT	0.547000													37	172					6.04917e-29	1.20103e-28	1	1	0
NAPG	8774	broad.mit.edu	37	18	10548349	10548349	+	Silent	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:10548349A>G	ENST00000322897.6	+	10	708	c.639A>G	c.(637-639)gcA>gcG	p.A213A	NAPG_ENST00000542979.1_Silent_p.A131A	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	213					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	p.A213A(1)		large_intestine(2)|lung(2)	4						ATGTAGCTGCAGAAAGATGTG	0.413000													35	235					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													6	188					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32398633	32398633	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:32398633C>A	ENST00000357033.4	-	34	5045	c.4839G>T	c.(4837-4839)tgG>tgT	p.W1613C	DMD_ENST00000378677.2_Missense_Mutation_p.W1609C	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1613	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.W272C(1)|p.W1608C(1)|p.W1609C(1)|p.W1613C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTACCTTTCCCCAGGCAACTT	0.358000													29	103					1.32181e-22	2.48193e-22	1	1	0
TRPV2	51393	broad.mit.edu	37	17	16330853	16330853	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:16330853G>T	ENST00000338560.7	+	8	1741	c.1342G>T	c.(1342-1344)Gtg>Ttg	p.V448L	AC093484.4_ENST00000441875.1_RNA|TRPV2_ENST00000577397.1_Missense_Mutation_p.V18L	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	448					sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.V448L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTACCTCCTCGTGGGCCAGGT	0.572000													77	73					1.58458e-29	3.15375e-29	1	1	0
LTN1	26046	broad.mit.edu	37	21	30353440	30353440	+	Splice_Site	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:30353440C>A	ENST00000361371.4	-	6	961		c.e6+1		LTN1_ENST00000389195.2_Splice_Site|LTN1_ENST00000389194.2_Splice_Site	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1								ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GATTAATATACCTGAGGTACA	0.318000													13	59					1.5842e-08	2.10769e-08	1	1	0
CIT	11113	broad.mit.edu	37	12	120221783	120221783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:120221783C>A	ENST00000392521.2	-	12	1529	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Nonsense_Mutation_p.E492*	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	492					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.E492*(2)|p.E493*(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCCTTCAGCTCCACCTCCTTC	0.522000													58	441					3.28156e-27	6.40151e-27	1	1	0
TMEM200A	114801	broad.mit.edu	37	6	130761606	130761606	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:130761606C>A	ENST00000392429.1	+	2	2417	c.39C>A	c.(37-39)gcC>gcA	p.A13A	TMEM200A_ENST00000545622.1_Silent_p.A13A|TMEM200A_ENST00000296978.3_Silent_p.A13A	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	13						integral to membrane		p.A13A(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCTGGCCGCCTTGAAAAGGC	0.502000													51	224					6.3091e-27	1.22491e-26	1	1	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653697	5653697	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:5653697G>A	ENST00000354852.5	+	8	1371	c.1198G>A	c.(1198-1200)Gca>Aca	p.A400T	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.A46T|TRIM34_ENST00000514226.1_Missense_Mutation_p.A46T|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.A46T	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		400						intracellular	zinc ion binding	p.A46T(1)|p.A400T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAACAAGGAGGCAGTGACCAG	0.527000													18	119					0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	6006566	6006566	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:6006566C>A	ENST00000405415.1	-	2	568	c.182G>T	c.(181-183)cGc>cTc	p.R61L	RSPH10B_ENST00000337579.3_Missense_Mutation_p.R61L|RSPH10B_ENST00000404406.1_Missense_Mutation_p.R61L|RSPH10B_ENST00000441023.2_Missense_Mutation_p.R61L			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	61								p.R61L(1)		breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		AACGTTTTGGCGGTCTTTTTT	0.483000													24	213					1.26612e-14	2.07582e-14	1	1	0
KIAA1211L	343990	broad.mit.edu	37	2	99413910	99413910	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:99413910C>A	ENST00000397899.2	-	8	2838	c.2507G>T	c.(2506-2508)gGg>gTg	p.G836V		NM_207362.2	NP_997245.2			KIAA1211-like									p.G836V(1)									GTCCAAGGTCCCCCTCCGCTT	0.632000													42	182					9.39024e-22	1.73925e-21	1	1	0
FBXO24	26261	broad.mit.edu	37	7	100190547	100190547	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:100190547C>T	ENST00000241071.6	+	5	1022	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	FBXO24_ENST00000465843.1_Missense_Mutation_p.R220W|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.R272W|FBXO24_ENST00000360609.2_Missense_Mutation_p.R220W|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.R222W	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	234						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R234W(1)|p.R272W(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TAGTGGGCAGCGGGTCTTCAA	0.592000													10	106					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619978	77619978	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:77619978C>G	ENST00000521891.2	+	3	3236	c.2788C>G	c.(2788-2790)Ctc>Gtc	p.L930V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L904V|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L904V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L904V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	904						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L930V(1)		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)			TGAGCGCTCTCTCCCTGAAGA	0.512000										HNSCC(33;0.089)			9	46					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751731	40751731	+	Silent	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:40751731G>T	ENST00000561234.1	+	2	1327	c.1068G>T	c.(1066-1068)ccG>ccT	p.P356P	BAHD1_ENST00000560846.1_Silent_p.P356P|BAHD1_ENST00000416165.1_Silent_p.P356P			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	356	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	p.P356P(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGCTGCCGATGCCTGGCA	0.637000													39	191					2.6416e-12	4.07012e-12	1	1	0
ASIC2	40	broad.mit.edu	37	17	31415952	31415952	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:31415952G>T	ENST00000225823.2	-	3	1788	c.916C>A	c.(916-918)Cct>Act	p.P306T	ASIC2_ENST00000359872.6_Missense_Mutation_p.P255T|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	255					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.P255T(1)|p.P306T(1)								Amiloride(DB00594)	TGGATGAAAGGTGGCTCAGAC	0.527000													46	81					2.68985e-26	5.20179e-26	1	1	0
UBR5	51366	broad.mit.edu	37	8	103327008	103327008	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:103327008C>A	ENST00000520539.1	-	15	2464	c.1858G>T	c.(1858-1860)Gca>Tca	p.A620S	UBR5_ENST00000220959.4_Missense_Mutation_p.A620S|UBR5_ENST00000521922.1_Missense_Mutation_p.A614S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	620					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	p.A620S(1)|p.A620T(1)		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)			ATTGAGGATGCATCACTACAC	0.418000													70	47					4.41824e-40	9.19593e-40	1	1	0
CLINT1	9685	broad.mit.edu	37	5	157233056	157233056	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:157233056C>A	ENST00000523094.1	-	7	911	c.706G>T	c.(706-708)Gag>Tag	p.E236*	CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E254*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E236*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E236*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E254*	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	254					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	p.E236*(2)		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)			ACAGTCTCCTCTTCATCTTTG	0.418000													13	57					0.00010058	0.000113314	1	1	0
EGFR	1956	broad.mit.edu	37	7	55231427	55231427	+	Splice_Site	SNP	G	G	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:55231427G>C	ENST00000275493.2	+	14	1810	c.1631_splice	c.e14-1	p.E545_splice	EGFR_ENST00000455089.1_Splice_Site_p.E500_splice|EGFR_ENST00000442591.1_Splice_Site_p.E545_splice|EGFR_ENST00000342916.3_Splice_Site_p.E545_splice|EGFR_ENST00000454757.2_Splice_Site_p.E492_splice|EGFR_ENST00000344576.2_Splice_Site_p.E545_splice	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	545					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E545Q(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTCTCAGTGAGCCAAGGGA	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			17	187					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891977	18891977	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:18891977G>T	ENST00000317658.3	+	1	933	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	259					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.D259Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TCTACGAAGGGATCTTCCAGT	0.413000													18	109					1.56452e-12	2.42122e-12	1	1	0
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338000								Other conserved DNA damage response genes					6	13					0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1190769	1190769	+	Silent	SNP	G	G	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:1190769G>A	ENST00000347370.2	-	7	911	c.438C>T	c.(436-438)gtC>gtT	p.V146V	UBE2J2_ENST00000400930.4_Silent_p.V214V|UBE2J2_ENST00000400929.2_Silent_p.V146V|UBE2J2_ENST00000339385.6_Silent_p.V163V|UBE2J2_ENST00000348298.7_Silent_p.V146V|UBE2J2_ENST00000349431.6_Silent_p.V198V|UBE2J2_ENST00000360466.2_Silent_p.V198V	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	198					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.V214V(1)		cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TCCCGTTCTGGACGAGGTGCG	0.617000													51	178					0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33480187	33480187	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:33480187T>A	ENST00000373449.2	-	5	475	c.434A>T	c.(433-435)cAc>cTc	p.H145L	AK2_ENST00000548033.1_Missense_Mutation_p.H103L|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000480134.1_Silent_p.S113S|AK2_ENST00000354858.6_Missense_Mutation_p.H145L|AK2_ENST00000467905.1_Missense_Mutation_p.H145L	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	145					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding	p.H145L(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACTCTTGGGGTGAATCAGCCT	0.463000													87	305					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598427	179598427	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179598427A>G	ENST00000589042.1	-	53	15913	c.15689T>C	c.(15688-15690)gTt>gCt	p.V5230A	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4913A|TTN_ENST00000342992.6_Missense_Mutation_p.V3986A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4913	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V3986A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTAATCTGAACATCAGGGAT	0.403000													50	263					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670420	49670420	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:49670420C>A	ENST00000561648.1	-	4	2696	c.2643G>T	c.(2641-2643)gcG>gcT	p.A881A	ZNF423_ENST00000562871.1_Silent_p.A821A|ZNF423_ENST00000567169.1_Silent_p.A764A|ZNF423_ENST00000563137.2_Silent_p.A821A|ZNF423_ENST00000262383.2_Silent_p.A881A|ZNF423_ENST00000562520.1_Silent_p.A821A|ZNF423_ENST00000535559.1_Silent_p.A764A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	881					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGCTCCGACGCGTCCACGT	0.627000													16	178					6.31663e-08	8.22568e-08	1	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156711063	156711063	+	Splice_Site	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:156711063G>T	ENST00000264424.8	+	5	577	c.495_splice	c.e5+1	p.K165_splice	GUCY1B3_ENST00000505154.1_Splice_Site_p.K97_splice|GUCY1B3_ENST00000507146.1_Splice_Site_p.K97_splice|GUCY1B3_ENST00000503520.1_Splice_Site_p.K165_splice|GUCY1B3_ENST00000505764.1_Splice_Site_p.K145_splice|GUCY1B3_ENST00000502959.1_Splice_Site_p.K187_splice|GUCY1B3_ENST00000513437.1_Splice_Site_p.K97_splice	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	165					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.K165N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TAGACATGAAGGTAACAAACA	0.368000													21	120					3.5997e-14	5.81636e-14	1	1	0
CHRNB4	1143	broad.mit.edu	37	15	78917435	78917435	+	Silent	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:78917435C>A	ENST00000412074.2	-	5	669	c.558G>T	c.(556-558)ccG>ccT	p.P186P	CHRNB4_ENST00000261751.3_3'UTR	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	0					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGTGCCCACCCGGCCACTCAC	0.602000													19	149					4.96729e-08	6.48918e-08	1	1	0
IMMP2L	83943	broad.mit.edu	37	7	110526731	110526731	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:110526731C>A	ENST00000405709.2	-	5	768	c.326G>T	c.(325-327)cGg>cTg	p.R109L	IMMP2L_ENST00000331762.3_Missense_Mutation_p.R109L|IMMP2L_ENST00000450877.1_Missense_Mutation_p.R91L|IMMP2L_ENST00000452895.1_Missense_Mutation_p.R109L|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Missense_Mutation_p.R109L	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	109					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	p.R109L(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TTTGACATACCGGTTTTTGTG	0.418000													18	79					1.64113e-05	1.92026e-05	1	1	0
FRY	10129	broad.mit.edu	37	13	32805373	32805373	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:32805373G>T	ENST00000380250.3	+	41	5959	c.5463G>T	c.(5461-5463)aaG>aaT	p.K1821N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.K1821N(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAATTCAAAGAGTGCTGAAC	0.353000													42	95					1.00001e-27	1.95855e-27	1	1	0
RTN1	6252	broad.mit.edu	37	14	60213004	60213004	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:60213004G>T	ENST00000267484.5	-	2	772	c.437C>A	c.(436-438)cCc>cAc	p.P146H		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	146					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGAGGGGCCGGGTGTACCCAG	0.493000													7	99					0.0293803	0.0301161	1	1	0
TTK	7272	broad.mit.edu	37	6	80746240	80746240	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:80746240G>T	ENST00000509894.1	+	17	2799	c.1970G>T	c.(1969-1971)gGa>gTa	p.G657V	TTK_ENST00000369798.2_Missense_Mutation_p.G658V|TTK_ENST00000230510.3_Missense_Mutation_p.G657V			P33981	TTK_HUMAN	TTK protein kinase	658	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G642V(1)|p.G658V(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGTTGATGGAATGCTAAAG	0.328000													9	108					7.48243e-07	9.33783e-07	1	1	0
HDAC1	3065	broad.mit.edu	37	1	32797755	32797755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:32797755delG	ENST00000373548.3	+	12	1368	c.1284delG	c.(1282-1284)gafs	p.E428fs	HDAC1_ENST00000373541.2_Frame_Shift_Del_p.E235fs	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	428					anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	AGGAGGGAGAGGGGGGCCGCA	0.517													8	141	---	---	---	---					
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:89448604_89448605insGG	ENST00000399794.2	-	3	1620_1621	c.905_906insCC	c.(904-906)ctcfs	p.L302fs	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.						nucleotide binding|RNA binding										CACCATAAGATGGCGGGGGCCC	0.475													8	473	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114508811	114508812	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:114508811_114508812insG	ENST00000369558.1	+	11	2530_2531	c.2298_2299insG	c.(2296-2301)ccgggtfs	p.PG766fs	HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.PG766fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.PG766fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.PG372fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.PG721fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.PG732fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.PG372fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.PG392fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.PG721fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.P766P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGTTGCCTGGGGTAGCTCT	0.520													29	89	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													10	29	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)tcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557													7	228	---	---	---	---					
LAX1	54900	broad.mit.edu	37	1	203743105	203743105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:203743105delG	ENST00000442561.2	+	5	883	c.493delG	c.(493-495)ggfs	p.G165fs	LAX1_ENST00000367217.5_Frame_Shift_Del_p.G149fs|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	165					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGATGTGTGGGAACCTCAC	0.542													19	152	---	---	---	---					
LRRN2	10446	broad.mit.edu	37	1	204588730	204588730	+	Frame_Shift_Del	DEL	G	G	-	rs148739326		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:204588730delG	ENST00000367175.1	-	1	2603	c.391delC	c.(391-393)ggfs	p.R131fs	LRRN2_ENST00000367177.3_Frame_Shift_Del_p.R131fs|LRRN2_ENST00000367176.3_Frame_Shift_Del_p.R131fs			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	131					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCCTCCAGCCGGGTCAGCTGG	0.607													43	401	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228602593	228602594	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:228602593_228602594insT	ENST00000366697.2	-	1	1136_1137	c.180_181insA	c.(178-183)ttcctgfs	p.FL60fs	TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.FL60fs|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.FL60fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.FL60fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	60					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TCGGGGCAGGGGAAGGAGCCCT	0.644													19	90	---	---	---	---					
URB2	9816	broad.mit.edu	37	1	229771777	229771778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr1:229771777_229771778insT	ENST00000258243.2	+	4	1553_1554	c.1417_1418insT	c.(1417-1419)tttfs	p.F473fs		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	473						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTTTGAAGAGGTTTTGGGGGTG	0.564													71	497	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aafs	p.K65fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333													7	27	---	---	---	---					
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236																											AATTTACTCAGCCAATGTGCTC	0.480													7	349	---	---	---	---					
LCT	3938	broad.mit.edu	37	2	136566685	136566685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:136566685delC	ENST00000264162.2	-	8	3242	c.3232delG	c.(3232-3234)aafs	p.E1078fs		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1078	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGGGAAATTCCCCTGAGCCA	0.507													18	115	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179457285	179457285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:179457285delG	ENST00000589042.1	-	301	59671	c.59447delC	c.(59446-59448)cafs	p.P19816fs	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P17248fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P10751fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P10876fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P10943fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.P18175fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18175	Fibronectin type-III 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTACTTTTGGGAATGGCAC	0.418													27	383	---	---	---	---					
FAM171B	165215	broad.mit.edu	37	2	187627476	187627476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:187627476delC	ENST00000304698.5	+	8	2610	c.2407delC	c.(2407-2409)cafs	p.P803fs		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	803						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGGCAGACCACCACTAGCCAA	0.473													9	81	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189898877	189898877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:189898877delG	ENST00000374866.3	-	54	4693	c.4419delC	c.(4417-4419)ccfs	p.P1473fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1473	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GATCTATGATGGGCAAGCGTG	0.438													24	94	---	---	---	---					
CRYGA	1418	broad.mit.edu	37	2	209028143	209028143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:209028143delG	ENST00000304502.4	-	2	56	c.37delC	c.(37-39)agfs	p.Q13fs		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		CAGCGACCCTGAAAGTCTCGG	0.542													24	208	---	---	---	---					
TNS1	7145	broad.mit.edu	37	2	218749786	218749786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr2:218749786delC	ENST00000171887.4	-	14	1295	c.843delG	c.(841-843)ggfs	p.G281fs	TNS1_ENST00000430930.1_Frame_Shift_Del_p.G281fs|TNS1_ENST00000310858.6_Frame_Shift_Del_p.G312fs|TNS1_ENST00000419504.1_Frame_Shift_Del_p.G281fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	281	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTCCTCCTTCCCAAAGACAA	0.567													32	183	---	---	---	---					
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tct>tc	p.SS69del	TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419													7	341	---	---	---	---					
DCBLD2	131566	broad.mit.edu	37	3	98530083	98530083	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:98530083delT	ENST00000326840.6	-	12	1893	c.1531delA	c.(1531-1533)gtfs	p.S511fs	DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.S511fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	511					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ATATCAGGACTGGCAGTTGTT	0.388													46	187	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)del	p.Q570del	TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													10	271	---	---	---	---					
SMC4	10051	broad.mit.edu	37	3	160143939	160143940	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr3:160143939_160143940insA	ENST00000357388.3	+	17	3007_3008	c.2556_2557insA	c.(2554-2559)gaaaaafs	p.EK852fs	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	852					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGCCCCTGACAAAAAAAAGCA	0.322													7	573	---	---	---	---					
GPR125	166647	broad.mit.edu	37	4	22390299	22390299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:22390299delC	ENST00000334304.5	-	19	3264	c.2995delG	c.(2995-2997)ccfs	p.A999fs	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	999					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTAAGGCTGGCCCCCAAGAGC	0.408													10	104	---	---	---	---					
BMP2K	55589	broad.mit.edu	37	4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-	rs2114202	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)del	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488													16	72	---	---	---	---					
COL25A1	84570	broad.mit.edu	37	4	109740455	109740455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:109740455delC	ENST00000399132.1	-	36	2406	c.1876delG	c.(1876-1878)agfs	p.E626fs		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	626	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGGCCTGGCTCCCCTTTTTCC	0.458													12	118	---	---	---	---					
MARCH1	55016	broad.mit.edu	37	4	164507009	164507009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr4:164507009delA	ENST00000503008.1	-	6	1291	c.315delT	c.(313-315)ttfs	p.F105fs	MARCH1_ENST00000274056.7_Frame_Shift_Del_p.F105fs|MARCH1_ENST00000339875.5_Frame_Shift_Del_p.F88fs|MARCH1_ENST00000514618.1_Frame_Shift_Del_p.F361fs	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	105					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGTGGACAAAGCGCAGTG	0.537													11	93	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71493968	71493976	+	In_Frame_Del	DEL	CAAACACCT	CAAACACCT	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:71493968_71493976delCAAACACCT	ENST00000296755.7	+	5	5084_5092	c.4786_4794delCAAACACCT	c.(4786-4794)del	p.QTP1596del		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1596						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTCTGTTGTGCAAACACCTACCACATTCC	0.464													12	182	---	---	---	---					
DUSP1	1843	broad.mit.edu	37	5	172196762	172196763	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr5:172196762_172196763insA	ENST00000239223.3	-	3	790_791	c.548_549insT	c.(547-549)cggfs	p.R183fs	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	183	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		ACGCACTGCCCAGGTACAGAAA	0.535													13	123	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10556854	10556854	+	Frame_Shift_Del	DEL	C	C	-	rs55930620		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:10556854delC	ENST00000316170.3	+	1	615	c.198delC	c.(196-198)atfs	p.I66fs	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	67						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AACTAATGATCCATGAGAAGT	0.408													26	232	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327907	16327909	+	In_Frame_Del	DEL	TGA	TGA	-	rs59310777	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:16327907_16327909delTGA	ENST00000244769.4	-	8	1569_1571	c.633_635delTCA	c.(631-636)cag>ca	p.HQ211del	ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgctgctgatgctgatgct	0.670													20	25	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							AGAACCCTGACTTCTCTTTCTGCAA	0.488													10	82	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)ggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													7	847	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:76599857_76599858insA	ENST00000369981.3	+	26	3021_3022	c.2742_2743insA	c.(2740-2745)caaaaafs	p.QK914fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs			Q9UM54	MYO6_HUMAN	myosin VI	914					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													12	211	---	---	---	---					
MRAP2	112609	broad.mit.edu	37	6	84799172	84799172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:84799172delC	ENST00000257776.4	+	4	725	c.590delC	c.(589-591)tcfs	p.S197fs		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	197					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGCCACTTTCCCAGACCTCA	0.423													31	186	---	---	---	---					
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)tfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431													8	185	---	---	---	---					
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccfs	p.P231fs	DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	231					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													8	1010	---	---	---	---					
CNTNAP2	26047	broad.mit.edu	37	7	146741063	146741063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr7:146741063delC	ENST00000361727.3	+	4	983	c.467delC	c.(466-468)gcfs	p.A156fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	156	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCGATTATTGCCCGCTATGTG	0.428										HNSCC(39;0.1)			49	237	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggccag>ggAGCGGCccag	p.350_351GQ>GAAQ	SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN		350							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653													9	58	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													16	299	---	---	---	---					
CYP11B1	1584	broad.mit.edu	37	8	143956441	143956442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr8:143956441_143956442insT	ENST00000292427.4	-	8	1361_1362	c.1329_1330insA	c.(1327-1332)ttgcttfs	p.L444fs	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Frame_Shift_Ins_p.L515fs	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	444					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ATGCCAAAGCCAAAGGGCACGT	0.673									Familial Hyperaldosteronism type I				19	223	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													10	159	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117783521	117783521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:117783521delC	ENST00000350763.4	-	28	6932	c.6521delG	c.(6520-6522)gcfs	p.G2174fs	TNC_ENST00000542877.1_Frame_Shift_Del_p.G1811fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.G1628fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.G1901fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.G1537fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.G1537fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.G1810fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.G1992fs|TNC_ENST00000535648.1_Frame_Shift_Del_p.G1719fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2174	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTGTTCGTGGCCCTTCCAGTG	0.483													11	78	---	---	---	---					
SH2D3C	10044	broad.mit.edu	37	9	130511788	130511789	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:130511788_130511789delTG	ENST00000314830.8	-	5	953_954	c.840_841delCA	c.(838-843)catcfs	p.HI280fs	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373277.4_Frame_Shift_Del_p.HI123fs|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Frame_Shift_Del_p.HI122fs|SH2D3C_ENST00000373274.3_Frame_Shift_Del_p.HI120fs|SH2D3C_ENST00000373276.3_Frame_Shift_Del_p.HI212fs	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	280	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTACTGGATGTGTGTGTAGC	0.599													7	78	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs34222232		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)del	p.S542del		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													9	13	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													5	9	---	---	---	---					
OR5P2	120065	broad.mit.edu	37	11	7818246	7818246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:7818246delG	ENST00000329434.2	-	1	274	c.244delC	c.(244-246)tgfs	p.L82fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTCCACCAGGAAGTTTACA	0.483													21	221	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													13	4	---	---	---	---					
SOX6	55553	broad.mit.edu	37	11	16117639	16117640	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:16117639_16117640insT	ENST00000352083.6	-	9	1080_1081	c.1003_1004insA	c.(1003-1005)taafs	p.*335fs	SOX6_ENST00000396356.3_Frame_Shift_Ins_p.*335fs|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000528429.1_Frame_Shift_Ins_p.*335fs|SOX6_ENST00000316399.6_Frame_Shift_Ins_p.*335fs			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	335					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGGTTAATTTGTGGGTGG	0.391													18	140	---	---	---	---					
BCO2	83875	broad.mit.edu	37	11	112050134	112050134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:112050134delA	ENST00000357685.5	+	2	357	c.222delA	c.(220-222)ggfs	p.G74fs	BCO2_ENST00000526088.1_Frame_Shift_Del_p.G40fs|BCO2_ENST00000393032.2_Frame_Shift_Del_p.G40fs|BCO2_ENST00000361053.4_Frame_Shift_Del_p.G74fs|BCO2_ENST00000438022.1_Frame_Shift_Del_p.G40fs|BCO2_ENST00000531169.1_Frame_Shift_Del_p.G40fs|SDHD_ENST00000532699.1_Intron|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000532612.1_3'UTR			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	74					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GAGTCTGGGGACATTTTCCTA	0.517													44	139	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													8	241	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14018915	14018915	+	Frame_Shift_Del	DEL	G	G	-	rs77299791	byFrequency	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:14018915delG	ENST00000279593.3	-	2	437	c.228delC	c.(226-228)acfs	p.T76fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	76					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTTGGGTCGGTCTCATTCA	0.562													67	275	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26835587	26835587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:26835587delT	ENST00000381340.3	-	12	1584	c.1168delA	c.(1168-1170)ggfs	p.R390fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	390	MIR 5.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CATAAATGCCTTAACCGAACA	0.323													80	135	---	---	---	---					
OVCH1	341350	broad.mit.edu	37	12	29648356	29648356	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:29648356delC	ENST00000318184.5	-	4	315	c.316delG	c.(316-318)agfs	p.E106fs		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	106	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGCTGTACTCCCCAGAAGTC	0.383													18	88	---	---	---	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)del	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													15	928	---	---	---	---					
IFNG-AS1	100885789	broad.mit.edu	37	12	68429859	68429860	+	RNA	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:68429859_68429860insT	ENST00000536914.1	+	0	336																											AAAGATATTTGTTGGCGGCATT	0.426													23	76	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406													2	4	---	---	---	---					
NBEA	26960	broad.mit.edu	37	13	36241515	36241515	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:36241515delC	ENST00000540320.1	+	56	8940	c.8406delC	c.(8404-8406)ggfs	p.G2802fs	NBEA_ENST00000310336.4_Frame_Shift_Del_p.G2802fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.G2799fs|NBEA_ENST00000379922.3_Frame_Shift_Del_p.G380fs|NBEA_ENST00000537702.1_Frame_Shift_Del_p.G595fs|NBEA_ENST00000400445.3_Frame_Shift_Del_p.G2802fs			Q8NFP9	NBEA_HUMAN	neurobeachin	2802						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGCAGAGGGCCCTTGCCTTG	0.542													36	97	---	---	---	---					
UCHL3	7347	broad.mit.edu	37	13	76123902	76123916	+	RNA	DEL	GGCGGCGGCGGCGAA	GGCGGCGGCGGCGAA	-	rs8192737		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr13:76123902_76123916delGGCGGCGGCGGCGAA	ENST00000563635.1	+	0	0_8																											GggcggaagcggcggcggcggcgaaggcggcggcT	0.716											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	2	---	---	---	---					
RNASE10	338879	broad.mit.edu	37	14	20979139	20979139	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:20979139delC	ENST00000430083.1	+	2	997	c.593delC	c.(592-594)tcfs	p.S198fs	RNASE10_ENST00000328444.5_Frame_Shift_Del_p.S170fs			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	170						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CACAAAAGCTCCCGACCTTTT	0.428													9	111	---	---	---	---					
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55																											GACTCTTTTTTAAAAAAACAGG	0.450													9	23	---	---	---	---					
HHIPL1	84439	broad.mit.edu	37	14	100118789	100118790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr14:100118789_100118790insT	ENST00000330710.5	+	2	582_583	c.484_485insT	c.(484-486)ggtfs	p.G162fs	HHIPL1_ENST00000357223.2_Frame_Shift_Ins_p.G162fs	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	162					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCCTTACCTGCTGGTCAACAAG	0.619													16	170	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65686760	65686760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:65686760delA	ENST00000352385.2	-	9	1912	c.1703delT	c.(1702-1704)tgfs	p.L568fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	568	Fibronectin type-III 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCCTTTCCCAAACCGTATTC	0.602													50	523	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876836	+	In_Frame_Del	DEL	TGCTGCTGC	TGCTGCTGC	-	rs71879812		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:89876828_89876836delTGCTGCTGC	ENST00000268124.5	-	2	483_491	c.150_158delGCAGCAGCA	c.(148-159)caa>ca	p.QQQQ50del	POLG_ENST00000442287.2_In_Frame_Del_p.QQQQ50del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	50	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgctgctgct	0.699								DNA polymerases (catalytic subunits)					18	22	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													20	7	---	---	---	---					
GRIN2A	2903	broad.mit.edu	37	16	9858253	9858253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:9858253delT	ENST00000396573.2	-	14	3457	c.3148delA	c.(3148-3150)ggfs	p.R1050fs	GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.R1050fs|GRIN2A_ENST00000535259.1_Frame_Shift_Del_p.R893fs|GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.R1050fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.R1050fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.R1050fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1050					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAAGATACCTAGGGCTCTTT	0.507													78	329	---	---	---	---					
NPIPA5	100288332	broad.mit.edu	37	16	15457565	15457566	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:15457565_15457566delAC	ENST00000360151.4	-	8	1002_1003	c.1003_1004delGT	c.(1003-1005)cfs	p.V335fs		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		GAGTGAGCAGACACACTCGGGA	0.446													13	116	---	---	---	---					
OTOA	146183	broad.mit.edu	37	16	21747674	21747675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:21747674_21747675insA	ENST00000388958.3	+	21	2395_2396	c.2394_2395insA	c.(2392-2397)aagcagfs	p.Q799fs	OTOA_ENST00000388956.4_Frame_Shift_Ins_p.Q720fs|OTOA_ENST00000388957.3_Frame_Shift_Ins_p.Q475fs|OTOA_ENST00000286149.4_Frame_Shift_Ins_p.Q813fs	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	813					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGTTCGGAACAGCAGTGATAA	0.495													60	178	---	---	---	---					
RP11-812E19.7	0	broad.mit.edu	37	16	33661274	33661274	+	RNA	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:33661274delG	ENST00000563019.1	-	0	57																											TCTGATCAGTGGGTTCTGTGC	0.532													31	138	---	---	---	---					
CCDC135	84229	broad.mit.edu	37	16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtg>gt	p.VE8del	CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	8						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													10	228	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11738155	11738155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:11738155delC	ENST00000262442.3	+	49	9515	c.9447delC	c.(9445-9447)gafs	p.D3149fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.D3149fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3149	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGAGGAGGACCTGGCAAAGG	0.557													14	56	---	---	---	---					
TBC1D3P5	440419	broad.mit.edu	37	17	25753395	25753395	+	RNA	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:25753395delG	ENST00000586223.1	+	0	1495					NR_033892.1																						TGACTCTCATGGGGAAGGTCA	0.617													18	37	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													12	228	---	---	---	---					
PHLPP1	23239	broad.mit.edu	37	18	60609095	60609095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:60609095delC	ENST00000400316.4	+	11	3350	c.1569delC	c.(1567-1569)cafs	p.H523fs	PHLPP1_ENST00000262719.5_Frame_Shift_Del_p.H1035fs	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1035					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TAACGGGACACCCCCATTTGA	0.438													15	77	---	---	---	---					
CDH7	1005	broad.mit.edu	37	18	63489373	63489374	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr18:63489373_63489374insT	ENST00000536984.2	+	5	1376_1377	c.682_683insT	c.(682-684)tgtfs	p.C228fs	CDH7_ENST00000397968.2_Frame_Shift_Ins_p.C228fs|CDH7_ENST00000323011.3_Frame_Shift_Ins_p.C228fs			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	228	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCAGTATTTGCTTGTCATTCAG	0.431													18	83	---	---	---	---					
COL5A3	50509	broad.mit.edu	37	19	10073549	10073549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:10073549delG	ENST00000264828.3	-	65	4882	c.4797delC	c.(4795-4797)tcfs	p.S1599fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1599	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTTGGACCAGGAGGCCAATT	0.537													8	47	---	---	---	---					
ZNF492	57615	broad.mit.edu	37	19	22847330	22847330	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:22847330delG	ENST00000456783.2	+	4	1103	c.859delG	c.(859-861)gcfs	p.G287fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGAAGAATGTGGCAAAGCTTT	0.398													7	30	---	---	---	---					
LOC284395	284395	broad.mit.edu	37	19	29917557	29917558	+	RNA	INS	-	-	TGC			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:29917557_29917558insTGC	ENST00000582581.1	-	0	409					NR_040029.1																						AGATACTACAttgctgttgctg	0.436													3	4	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)del	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													8	166	---	---	---	---					
CABP5	56344	broad.mit.edu	37	19	48542528	48542528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr19:48542528delG	ENST00000293255.2	-	4	415	c.285delC	c.(283-285)ccfs	p.P95fs		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	95	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CAAGCAATTTGGGGGTCATCA	0.532													58	169	---	---	---	---					
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gtg>g	p.EV547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557													7	297	---	---	---	---					
ADAMTS1	9510	broad.mit.edu	37	21	28210056	28210056	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:28210056delC	ENST00000284984.2	-	9	3200	c.2746delG	c.(2746-2748)agfs	p.E916fs		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	916	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GATGACCACTCCCCCAGCTGC	0.522													24	213	---	---	---	---					
ADAMTS5	11096	broad.mit.edu	37	21	28296484	28296484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr21:28296484delC	ENST00000284987.5	-	8	2802	c.2681delG	c.(2680-2682)gtfs	p.G894fs	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	894	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GGTGTGCCAACCTGTGTCACA	0.547													18	136	---	---	---	---					
RIMBP3	85376	broad.mit.edu	37	22	20457848	20457848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:20457848delG	ENST00000426804.1	-	1	3938	c.3454delC	c.(3454-3456)agfs	p.Q1152fs		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ACCTGTAGCTGGGAGAATTCC	0.557													7	88	---	---	---	---					
IGLV3-1	28809	broad.mit.edu	37	22	23223370	23223371	+	RNA	INS	-	-	C			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:23223370_23223371insC	ENST00000390319.2	+	0	192_193																											GATAAATTGGGGGATAAATATG	0.559													9	109	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcc>g	p.AS587del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	587					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596													9	639	---	---	---	---					
ITGB1BP2	26548	broad.mit.edu	37	X	70522270	70522271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:70522270_70522271insT	ENST00000538820.1	+	3	467_468	c.127_128insT	c.(127-129)gggfs	p.G43fs	ITGB1BP2_ENST00000373829.3_Frame_Shift_Ins_p.G61fs			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	61	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GGGCTGTACTATGGGACCACAC	0.441													26	54	---	---	---	---					
FATE1	89885	broad.mit.edu	37	X	150885800	150885801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4382-01A-01D-1931-08	TCGA-05-4382-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b8f335-bb32-45de-985a-85508048b237	20e316a4-d1e4-44d2-881c-527e600203f0	g.chrX:150885800_150885801insA	ENST00000370350.3	+	2	248_249	c.163_164insA	c.(163-165)acafs	p.T55fs		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	55						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAAGTTGGAACAAAAAGCT	0.520													8	349	---	---	---	---					
