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
NALCN	259232	broad.mit.edu	37	13	101728270	101728270	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:101728270C>T	ENST00000251127.6	-	35	3989	c.3908G>A	c.(3907-3909)gGc>gAc	p.G1303D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1303						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G1303D(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)					CACACAAGCGCCCATCATGTA	0.318000													38	33					0	0	0.827153	0	0
N4BP3	23138	broad.mit.edu	37	5	177546877	177546877	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:177546877G>T	ENST00000274605.5	+	2	652	c.293G>T	c.(292-294)aGc>aTc	p.S98I		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	98						cytoplasmic vesicle membrane		p.S98I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|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)			GGTGACTTCAGCAAGACCTCG	0.612000													43	31					2.65591e-33	4.16544e-33	0.870114	1	0
CHD9	80205	broad.mit.edu	37	16	53330980	53330980	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:53330980C>A	ENST00000566029.1	+	30	5832	c.5623C>A	c.(5623-5625)Cta>Ata	p.L1875I	CHD9_ENST00000398510.3_Missense_Mutation_p.L1875I|CHD9_ENST00000447540.1_Missense_Mutation_p.L1875I|CHD9_ENST00000564845.1_Missense_Mutation_p.L1875I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1875					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.L1875I(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)				TATGGCTAGGCTACATAAGAA	0.383000													4	109					0.00024832	0.000263165	0.150653	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		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)		AGGAGAAGTTACGGGAAGGGA	0.527000													7	189					0	0	0.335167	0	0
PTPRB	5787	broad.mit.edu	37	12	70933485	70933485	+	Splice_Site	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:70933485G>C	ENST00000334414.6	-	26	5742	c.5696_splice	c.e26-1	p.P1900_splice	PTPRB_ENST00000451516.2_Splice_Site_p.P1592_splice|PTPRB_ENST00000261266.5_Splice_Site_p.P1682_splice|PTPRB_ENST00000550857.1_Splice_Site_p.P1592_splice|PTPRB_ENST00000538708.1_Splice_Site_p.P1592_splice|PTPRB_ENST00000550358.1_Splice_Site_p.P1812_splice	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1682	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1682A(2)|p.P1900A(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTTTTATTGGACTGTAATTA	0.353000													5	10					0	0	0.217242	0	0
USP40	55230	broad.mit.edu	37	2	234436080	234436080	+	Silent	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:234436080T>C	ENST00000251722.6	-	13	1812	c.1695A>G	c.(1693-1695)ttA>ttG	p.L565L	USP40_ENST00000427112.2_Silent_p.L565L|USP40_ENST00000450966.1_Silent_p.L577L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	565					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L577L(2)		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)		GGAGATCTCCTAAAGTTTTTC	0.438000													11	27					0	0	0.361761	0	0
MARCO	8685	broad.mit.edu	37	2	119739028	119739028	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:119739028G>C	ENST00000541757.1	+	10	956	c.576G>C	c.(574-576)atG>atC	p.M192I	MARCO_ENST00000327097.4_Missense_Mutation_p.M270I			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	270	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.M270I(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						CAGGGGTCATGGGGCCTCCTG	0.557000													6	24					0	0	0.217242	0	0
RGS7	6000	broad.mit.edu	37	1	241094038	241094038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:241094038C>A	ENST00000366565.1	-	6	745	c.364G>T	c.(364-366)Gag>Tag	p.E122*	RGS7_ENST00000331110.7_Nonsense_Mutation_p.E96*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E122*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E38*|RGS7_ENST00000348120.2_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	122					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.E122*(4)		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)			TTTTCCGGCTCCCAACAATTT	0.388000													80	75					7.49063e-41	1.2105e-40	0.870114	1	0
HENMT1	113802	broad.mit.edu	37	1	109200156	109200156	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:109200156T>C	ENST00000370032.5	-	3	487	c.67A>G	c.(67-69)Acg>Gcg	p.T23A	HENMT1_ENST00000402983.1_Missense_Mutation_p.T23A|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000370031.1_Missense_Mutation_p.T23A	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	23					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	p.T23A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TGAATTGCCGTCTCCCTGGGA	0.393000													14	33					0	0	0.500413	0	0
TENM1	10178	broad.mit.edu	37	X	123526090	123526090	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:123526090C>T	ENST00000422452.2	-	28	5563	c.5500G>A	c.(5500-5502)Ggg>Agg	p.G1834R	TENM1_ENST00000371130.3_Missense_Mutation_p.G1827R|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.G1829R(1)									ATGGGTCGCCCAGTCTGGTCA	0.418000													27	34					0	0	0.706142	0	0
OR9K2	441639	broad.mit.edu	37	12	55523903	55523903	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:55523903C>A	ENST00000305377.5	+	1	439	c.351C>A	c.(349-351)atC>atA	p.I117I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I117I(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ACAAGTCTATCTCCTTTGCAG	0.448000													66	37					1.77267e-40	2.85677e-40	0.870114	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618691	77618691	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:77618691A>T	ENST00000521891.2	+	2	2816	c.2368A>T	c.(2368-2370)Aag>Tag	p.K790*	ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K790*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K790*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K790*|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	790						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K790*(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)			GACCAGCGAAAAGCACATGCA	0.488000										HNSCC(33;0.089)			8	18					0	0	0.278610	0	0
KLK13	26085	broad.mit.edu	37	19	51561823	51561823	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:51561823G>C	ENST00000595793.1	-	4	659	c.617C>G	c.(616-618)aCa>aGa	p.T206R	KLK13_ENST00000595547.1_Missense_Mutation_p.T133R|KLK13_ENST00000335422.3_Missense_Mutation_p.T54R	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	206	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.T206R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ACCCTCTTTTGTGCCGGCACA	0.527000													49	92					0	0	0.870114	0	0
CNTN3	5067	broad.mit.edu	37	3	74413726	74413726	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:74413726C>A	ENST00000263665.6	-	9	1132	c.1105G>T	c.(1105-1107)Ggt>Tgt	p.G369C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	369	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G369C(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTAAGGGCACCATTTTCTATC	0.343000													14	33					1.02788e-11	1.29593e-11	0.520397	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481402	95481402	+	RNA	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:95481402C>A	ENST00000432432.2	-	0	1958					NR_040113.1																						TTACCTATAGCAGCAGCCAGT	0.393000													23	74					1.9806e-07	2.25418e-07	0.624587	1	0
USH2A	7399	broad.mit.edu	37	1	216138679	216138679	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:216138679C>A	ENST00000366943.2	-	37	7486	c.7100G>T	c.(7099-7101)gGg>gTg	p.G2367V	USH2A_ENST00000307340.3_Missense_Mutation_p.G2367V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2367	Fibronectin type-III 10.				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.G2367V(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)		ATAGAATATCCCAGTGAAAAG	0.358000										HNSCC(13;0.011)			31	99					7.11191e-15	9.60847e-15	0.769981	1	0
KCNH2	3757	broad.mit.edu	37	7	150647133	150647133	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:150647133G>A	ENST00000430723.3	-	9	2533	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000262186.5_Intron|KCNH2_ENST00000330883.4_Intron	NM_172056.2	NP_742053.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	0					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.P841S(1)		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)	TGAATTAAAGGAGCCCAGTGA	0.597000													4	5					0	0	0.184627	0	0
TMPPE	643853	broad.mit.edu	37	3	33135131	33135131	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:33135131T>A	ENST00000342462.4	-	2	747	c.557A>T	c.(556-558)cAg>cTg	p.Q186L	GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.Q49L|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	186						integral to membrane	metal ion binding	p.Q186L(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AGCCGGGGGCTGCGCGGCATT	0.607000													25	19					0	0	0.693898	0	0
BRS3	680	broad.mit.edu	37	X	135570277	135570277	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:135570277G>T	ENST00000370648.3	+	1	232	c.4G>T	c.(4-6)Gct>Tct	p.A2S		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	2					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.A2S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGAAGAAATGGCTCAAAGGCA	0.378000													21	5					1.55795e-14	2.08082e-14	0.608945	1	0
IGFN1	91156	broad.mit.edu	37	1	201185815	201185815	+	Missense_Mutation	SNP	C	C	T	rs35669472		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:201185815C>T	ENST00000335211.4	+	16	9659	c.9529C>T	c.(9529-9531)Cgg>Tgg	p.R3177W	IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.R3177W(2)|p.R337W(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCGAGTGCGGGCTGTGAC	0.647000													26	28					0	0	0.769981	0	0
DPEP2	64174	broad.mit.edu	37	16	68026050	68026050	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:68026050A>G	ENST00000412757.2	-	5	1102	c.437T>C	c.(436-438)cTg>cCg	p.L146P	DPEP2_ENST00000572888.1_Missense_Mutation_p.L146P|DPEP2_ENST00000393847.1_Missense_Mutation_p.L146P			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	146					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.L146P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GGTGAGGCGCAGGGCATCCCG	0.607000													12	62					0	0	0.520397	0	0
CSMD3	114788	broad.mit.edu	37	8	113237069	113237069	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:113237069G>T	ENST00000297405.5	-	71	11299	c.11055C>A	c.(11053-11055)aaC>aaA	p.N3685K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3645K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3516K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3615K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3685						integral to membrane|plasma membrane		p.N3685K(1)|p.N3645K(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						CTGACTTTGCGTTGGTGTCAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			85	107					2.22156e-40	3.57036e-40	0.870114	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138712840	138712840	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:138712840C>T	ENST00000389532.4	-	11	3731	c.3667G>A	c.(3667-3669)Gtg>Atg	p.V1223M	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.V945M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.V1234M|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1223						cytoplasm|microtubule		p.V1223M(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTCCTCCACGGGGACGCTC	0.597000													45	38					0	0	0.853193	0	0
WDR11	55717	broad.mit.edu	37	10	122630692	122630692	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:122630692A>T	ENST00000263461.6	+	10	1551	c.1305A>T	c.(1303-1305)gcA>gcT	p.A435A		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	435						integral to membrane		p.A435A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGCAAAGTGCAATTGCTGGGG	0.413000													6	24					0	0	0.248553	0	0
FAM135B	51059	broad.mit.edu	37	8	139263230	139263230	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:139263230C>G	ENST00000395297.1	-	6	566	c.396G>C	c.(394-396)atG>atC	p.M132I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	132								p.M132I(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)			GGCTGCTGACCATCGGTGCCC	0.577000										HNSCC(54;0.14)			19	121					0	0	0.654019	0	0
ERBB3	2065	broad.mit.edu	37	12	56487890	56487890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:56487890C>T	ENST00000267101.3	+	14	2061	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R482*	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	541					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R541*(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAGGGAGCCTCGAGAATTTGC	0.562000													12	32					0	0	0.411799	0	0
IFNGR1	3459	broad.mit.edu	37	6	137519417	137519417	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:137519417G>A	ENST00000367739.4	-	7	1342	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	IFNGR1_ENST00000543628.1_Silent_p.H379H	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	407					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	p.H407H(1)		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)	CATTTCTGGAGTGATCACTCT	0.398000													17	46					0	0	0.539581	0	0
FBXL7	23194	broad.mit.edu	37	5	15928376	15928376	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:15928376G>T	ENST00000504595.1	+	3	986	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S	FBXL7_ENST00000329673.7_Missense_Mutation_p.A157S|FBXL7_ENST00000510662.1_Missense_Mutation_p.A122S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	169					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.A169S(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						CGTGGACCGCGCCCTCAAGGT	0.667000													5	8					1.26484e-09	1.53832e-09	0.278610	1	0
NOP56	10528	broad.mit.edu	37	20	2636664	2636664	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:2636664G>A	ENST00000329276.5	+	8	1510	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	332	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.E332K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCTTGGGGCTGAAAAGGCCCT	0.582000													30	40					0	0	0.750413	0	0
PRMT5	10419	broad.mit.edu	37	14	23397745	23397745	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:23397745C>A	ENST00000324366.8	-	2	413	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000216350.8_Missense_Mutation_p.G47C|PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.G47C|PRMT5_ENST00000397441.2_Missense_Mutation_p.G47C|PRMT5_ENST00000553897.1_Missense_Mutation_p.G64C	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	64					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.G64C(1)|p.G47C(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GTCTGGGGACCGGGCCGATTC	0.512000													36	67					9.62906e-15	1.29793e-14	0.819951	1	0
NPHP3	27031	broad.mit.edu	37	3	132423161	132423161	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:132423161C>A	ENST00000326682.8	-	9	1481	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y	NPHP3_ENST00000337331.5_Missense_Mutation_p.D469Y			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	469					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.D469Y(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAATGGAATCCTCACTGCCC	0.393000													124	73					5.08508e-67	8.30941e-67	0.870114	1	0
VWA3B	200403	broad.mit.edu	37	2	98907069	98907069	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:98907069T>A	ENST00000477737.1	+	23	3345	c.3141T>A	c.(3139-3141)aaT>aaA	p.N1047K	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1047								p.N1047K(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGATGAAAATGGCTTTTATT	0.338000													8	9					0	0	0.307466	0	0
TUBB8	347688	broad.mit.edu	37	10	94648	94648	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:94648G>A	ENST00000309812.4	-	3	246	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	TUBB8_ENST00000447903.2_5'UTR|TUBB8_ENST00000332708.5_Silent_p.P25P|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	62					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.R62C(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGCACAGCGCGGGGCACGTAC	0.697000													13	29					0	0	0.479597	0	0
WIPI1	55062	broad.mit.edu	37	17	66425071	66425071	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:66425071C>G	ENST00000262139.5	-	10	971	c.972G>C	c.(970-972)caG>caC	p.Q324H	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.Q242H	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	324					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.Q324H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GTGGCAACTTCTGGATCCTAA	0.493000													14	28					0	0	0.457914	0	0
ADH1C	126	broad.mit.edu	37	4	100264040	100264040	+	RNA	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:100264040T>C	ENST00000515683.1	-	0	1091					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGGTTTCTTGTAGTCTTGAGG	0.468000													93	355					0	0	0.870114	0	0
CNGA4	1262	broad.mit.edu	37	11	6265580	6265580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:6265580G>T	ENST00000379936.2	+	6	1784	c.1669G>T	c.(1669-1671)Gga>Tga	p.G557*		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	557					response to stimulus|sensory perception of smell		cAMP binding	p.G557*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGAGGAGGGAACTTCCAA	0.602000													5	8					0.014758	0.0149886	0.184627	1	0
ISLR2	57611	broad.mit.edu	37	15	74426316	74426316	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:74426316C>G	ENST00000361742.3	+	4	1990	c.1221C>G	c.(1219-1221)agC>agG	p.S407R	ISLR2_ENST00000565540.1_Missense_Mutation_p.S407R|ISLR2_ENST00000453268.2_Missense_Mutation_p.S407R|ISLR2_ENST00000445793.1_Missense_Mutation_p.S407R|ISLR2_ENST00000419208.1_Missense_Mutation_p.S407R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.S407R|ISLR2_ENST00000565159.1_Missense_Mutation_p.S407R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	407					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.S407R(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGGCAACAGCGTCCTGCCTT	0.667000													7	2					0	0	0.248553	0	0
FBLIM1	54751	broad.mit.edu	37	1	16091649	16091649	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:16091649G>A	ENST00000375766.3	+	3	811	c.171G>A	c.(169-171)gcG>gcA	p.A57A	FBLIM1_ENST00000332305.5_Silent_p.A57A|FBLIM1_ENST00000400773.1_Silent_p.A57A|FBLIM1_ENST00000375771.1_Silent_p.A57A|FBLIM1_ENST00000441801.2_Silent_p.A57A	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	57	Filamin-binding.|Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.A57A(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CTGGCTTGGCGGGGAGGCCCA	0.672000													14	22					0	0	0.575678	0	0
SIX6	4990	broad.mit.edu	37	14	60976401	60976401	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:60976401C>A	ENST00000327720.5	+	1	733	c.285C>A	c.(283-285)caC>caA	p.H95Q		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	95					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H95Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TTGAAGCACACTACCAGGAGG	0.582000													10	18					3.86212e-05	4.1532e-05	0.361761	1	0
AHNAK	79026	broad.mit.edu	37	11	62293042	62293042	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:62293042G>T	ENST00000378024.4	-	5	9121	c.8847C>A	c.(8845-8847)ccC>ccA	p.P2949P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2949					nervous system development	nucleus	protein binding	p.P2949P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTGAACTTGGGCCCTTTCA	0.502000													44	179					1.00953e-15	1.37663e-15	0.864702	1	0
ZNF207	7756	broad.mit.edu	37	17	30696361	30696361	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:30696361G>T	ENST00000394670.4	+	11	1381	c.1212G>T	c.(1210-1212)cgG>cgT	p.R404R	ZNF207_ENST00000394673.2_Silent_p.R373R|ZNF207_ENST00000342555.6_Silent_p.R407R|ZNF207_ENST00000341711.6_Silent_p.R305R|ZNF207_ENST00000321233.6_Silent_p.R388R|ZNF207_ENST00000577908.1_Silent_p.R404R	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	388						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R388R(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ATCTTCCTCGGCCAGGACAGG	0.512000													39	41					3.21399e-22	4.77205e-22	0.804634	1	0
REG3G	130120	broad.mit.edu	37	2	79253230	79253230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:79253230C>A	ENST00000272324.5	+	2	195	c.11C>A	c.(10-12)cCc>cAc	p.P4H	REG3G_ENST00000409471.1_Missense_Mutation_p.P4H|REG3G_ENST00000393897.2_Missense_Mutation_p.P4H	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	4					acute-phase response	extracellular region	sugar binding	p.P4H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCTGCCTCCCATGGCCCTG	0.537000													24	20					1.66031e-10	2.0405e-10	0.667858	1	0
PROCA1	147011	broad.mit.edu	37	17	27030878	27030878	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:27030878T>C	ENST00000301039.2	-	4	902	c.709A>G	c.(709-711)Act>Gct	p.T237A	PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.T239A	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	265	Lys-rich.				lipid catabolic process		calcium ion binding|phospholipase A2 activity	p.T237A(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TTCTTCTTAGTCAACTGGCCT	0.483000													10	96					0	0	0.335167	0	0
GRM1	2911	broad.mit.edu	37	6	146720526	146720526	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:146720526C>T	ENST00000392299.2	+	8	2821	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	GRM1_ENST00000361719.2_Missense_Mutation_p.A784V|GRM1_ENST00000282753.1_Missense_Mutation_p.A784V|GRM1_ENST00000507907.1_Missense_Mutation_p.A784V|GRM1_ENST00000355289.4_Missense_Mutation_p.A784V|GRM1_ENST00000492807.2_Missense_Mutation_p.A784V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	784					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A784V(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)	TTCAACGAGGCCAAATATATC	0.498000													20	61					0	0	0.624587	0	0
RASSF2	9770	broad.mit.edu	37	20	4771142	4771142	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:4771142G>C	ENST00000379400.3	-	7	687	c.492C>G	c.(490-492)atC>atG	p.I164M	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.I164M	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	164					cell cycle|signal transduction	nucleus	protein binding	p.I164M(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGTGGCGTCTGATTCGCCGCT	0.607000													11	44					0	0	0.457914	0	0
PTGDR	5729	broad.mit.edu	37	14	52735003	52735003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:52735003C>A	ENST00000306051.2	+	1	573	c.471C>A	c.(469-471)agC>agA	p.S157R	PTGDR_ENST00000553372.1_Missense_Mutation_p.S157R	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	157						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.S157S(1)|p.S157R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGGTGGTGAGCGCCTTCTCCC	0.637000													66	94					2.59843e-28	3.97927e-28	0.870114	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33658415	33658415	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:33658415T>A	ENST00000504830.1	-	7	1399	c.1064A>T	c.(1063-1065)aAt>aTt	p.N355I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N355I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	355	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N355I(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						GCAGGGGCGATTGAAACCAGC	0.493000										HNSCC(64;0.19)			49	88					0	0	0.870114	0	0
DIP2A	23181	broad.mit.edu	37	21	47974083	47974083	+	Splice_Site	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr21:47974083G>T	ENST00000318711.7	+	26	3218	c.3033_splice	c.e26-1	p.G1012_splice	DIP2A_ENST00000400274.1_Splice_Site_p.G1007_splice|DIP2A_ENST00000427143.2_Splice_Site_p.G947_splice|DIP2A_ENST00000417564.2_Splice_Site_p.G1011_splice	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1011					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.G1011V(1)|p.G1012V(1)|p.G947V(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)		CTTTCCTAGGGCACCGTCACA	0.582000													14	6					9.31168e-06	1.01819e-05	0.435327	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768533	31768533	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:31768533C>G	ENST00000240587.4	-	2	2493	c.2166G>C	c.(2164-2166)ttG>ttC	p.L722F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	722					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.L539F(1)|p.L722F(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)					GCAGGGCGCTCAAAGGGTTAA	0.577000													13	33					0	0	0.457914	0	0
FAM71F1	84691	broad.mit.edu	37	7	128357051	128357051	+	Splice_Site	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:128357051G>T	ENST00000315184.5	+	2	487	c.434_splice	c.e2+1	p.R145_splice	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Splice_Site_p.E66_splice	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	145								p.R145M(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTCCTGAAGAGGTGAGCAATG	0.517000													6	16					0.00116845	0.00122061	0.217242	1	0
THBS2	7058	broad.mit.edu	37	6	169637775	169637775	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:169637775G>A	ENST00000366787.3	-	9	1494	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	415	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.C415C(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGGGCCCCAAGCAGGTGTTGC	0.667000													15	35					0	0	0.520397	0	0
SP140L	93349	broad.mit.edu	37	2	231235658	231235658	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:231235658A>T	ENST00000243810.6	+	6	559	c.559A>T	c.(559-561)Agt>Tgt	p.S187C	SP140L_ENST00000415673.2_Missense_Mutation_p.S187C|SP140L_ENST00000458341.1_Missense_Mutation_p.S100C|SP140L_ENST00000396563.4_Missense_Mutation_p.S187C|SP140L_ENST00000444636.1_Missense_Mutation_p.S187C			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	187						nucleus	DNA binding|metal ion binding	p.S187C(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAGGAAGGAAAGTGACCAAGC	0.572000													11	14					0	0	0.361761	0	0
CD38	952	broad.mit.edu	37	4	15835864	15835864	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:15835864A>G	ENST00000226279.2	+	4	661	c.524A>G	c.(523-525)gAc>gGc	p.D175G		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	175					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	p.D175G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCTTGCCCAGACTGGAGAAAG	0.403000													21	49					0	0	0.592651	0	0
HCK	3055	broad.mit.edu	37	20	30686834	30686834	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:30686834C>A	ENST00000534862.1	+	13	1577	c.1214C>A	c.(1213-1215)gCt>gAt	p.A405D	HCK_ENST00000375862.2_Missense_Mutation_p.A424D|HCK_ENST00000520553.1_Missense_Mutation_p.A404D|HCK_ENST00000518730.1_Missense_Mutation_p.A403D|HCK_ENST00000375852.2_Missense_Mutation_p.A425D|HCK_ENST00000538448.1_Missense_Mutation_p.A404D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	425	Protein kinase.				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.A404D(1)|p.A425D(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)			AAGTGGACAGCTCCTGAAGCC	0.567000													33	121					4.34311e-12	5.53533e-12	0.779181	1	0
MKNK1	8569	broad.mit.edu	37	1	47024441	47024441	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:47024441C>G	ENST00000371946.4	-	14	1367	c.1204G>C	c.(1204-1206)Gca>Cca	p.A402P	MKNK1_ENST00000428112.2_Missense_Mutation_p.R346P|MKNK1_ENST00000341183.5_Missense_Mutation_p.R346P|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.A266P|MKNK1_ENST00000371945.4_Missense_Mutation_p.A361P	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	402					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.A402P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCCTCAGCTGCGAAGAGCGTC	0.592000													15	31					0	0	0.500413	0	0
SIX4	51804	broad.mit.edu	37	14	61180536	61180536	+	Silent	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:61180536T>A	ENST00000216513.4	-	3	1994	c.1935A>T	c.(1933-1935)gcA>gcT	p.A645A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	645						nucleus		p.A645A(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTGCCACCGGTGCAGACATTG	0.448000													20	21					0	0	0.592651	0	0
PCDH8	5100	broad.mit.edu	37	13	53420356	53420356	+	Missense_Mutation	SNP	A	A	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:53420356A>C	ENST00000377942.3	-	1	2419	c.2216T>G	c.(2215-2217)gTg>gGg	p.V739G	PCDH8_ENST00000338862.4_Missense_Mutation_p.V739G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	739					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.V739G(3)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGACCCGGACACCCCGAGCCG	0.711000													7	45					0	0	0.769981	0	0
ZNF334	55713	broad.mit.edu	37	20	45131272	45131272	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:45131272G>T	ENST00000457685.2	-	6	1915	c.592C>A	c.(592-594)Cca>Aca	p.P198T	ZNF334_ENST00000347606.4_Missense_Mutation_p.P236T|ZNF334_ENST00000593880.1_Missense_Mutation_p.P259T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P236T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATTCATTTGGTTTCCTTTCA	0.368000													31	91					6.00712e-18	8.50888e-18	0.760397	1	0
E2F7	144455	broad.mit.edu	37	12	77423929	77423929	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:77423929C>T	ENST00000322886.7	-	10	1801	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	E2F7_ENST00000416496.2_Silent_p.V522V	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	522					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.V522V(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GTGAGACATCCACTTGTCCAT	0.522000													56	21					0	0	0.870114	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325909	79325909	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:79325909G>C	ENST00000428286.1	-	8	1404	c.204C>G	c.(202-204)gaC>gaG	p.D68E	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D427E			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	427					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.D427E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAGTCCGCTGTCTGGGCTAA	0.542000													8	15					0	0	0.307466	0	0
DPEP3	64180	broad.mit.edu	37	16	68014020	68014020	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:68014020C>T	ENST00000268793.4	-	1	712	c.339G>A	c.(337-339)atG>atA	p.M113I	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	88					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.M113I(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGAAACTCCGCATCAGGGCCT	0.652000													17	9					0	0	0.539581	0	0
MYO18A	399687	broad.mit.edu	37	17	27493223	27493223	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:27493223C>T	ENST00000527372.1	-	2	916	c.736G>A	c.(736-738)Gag>Aag	p.E246K	MYO18A_ENST00000533112.1_Missense_Mutation_p.E246K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E246K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E246K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	246	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E246K(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCTGGCCCTCGGGGCCCCGA	0.677000													32	71					0	0	0.779181	0	0
SYTL5	94122	broad.mit.edu	37	X	37961594	37961594	+	Splice_Site	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:37961594G>T	ENST00000357972.5	+	10	1608		c.e10-1		SYTL5_ENST00000297875.2_Splice_Site|SYTL5_ENST00000456733.2_Splice_Site|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5						intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.?(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTCTTTTTTAGGACTCCTTGG	0.383000													19	9					0.000132079	0.000141513	0.575678	1	0
SGOL1	151648	broad.mit.edu	37	3	20216036	20216036	+	Silent	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:20216036G>C	ENST00000412997.1	-	6	1338	c.987C>G	c.(985-987)gtC>gtG	p.V329V	SGOL1_ENST00000412868.1_Silent_p.V329V|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000263753.4_Silent_p.V329V|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000421451.1_Silent_p.V329V|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	329					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	p.V329V(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CATTGGAACTGACAGATTTGT	0.323000													12	46					0	0	0.411799	0	0
PROM1	8842	broad.mit.edu	37	4	16014962	16014962	+	Splice_Site	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:16014962C>A	ENST00000505450.1	-	10	1663		c.e10-1		PROM1_ENST00000447510.2_Splice_Site|PROM1_ENST00000510224.1_Splice_Site|PROM1_ENST00000508167.1_Splice_Site|PROM1_ENST00000539194.1_Splice_Site|PROM1_ENST00000540805.1_Splice_Site|PROM1_ENST00000543373.1_Splice_Site	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1						camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATTGATAGCCCTGAAAAATAT	0.383000													32	33					9.93527e-08	1.13963e-07	0.769981	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100636612	100636612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:100636612C>A	ENST00000268070.4	-	15	2191	c.2086G>T	c.(2086-2088)Ggc>Tgc	p.G696C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	696	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G696C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAGGTCTTGCCGTCCCCGCTG	0.587000													83	43					1.3515e-34	2.12534e-34	0.870114	1	0
FLG	2312	broad.mit.edu	37	1	152284648	152284648	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:152284648C>A	ENST00000368799.1	-	3	2749	c.2714G>T	c.(2713-2715)gGc>gTc	p.G905V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	905	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G905V(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)			GTGCCTGGAGCCGTCTCTTGA	0.562000									Ichthyosis				195	302					6.86035e-81	1.1337e-80	0.870114	1	0
PYGL	5836	broad.mit.edu	37	14	51378535	51378535	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:51378535C>A	ENST00000216392.7	-	16	2214	c.1882G>T	c.(1882-1884)Gca>Tca	p.A628S	PYGL_ENST00000544180.2_Missense_Mutation_p.A594S|PYGL_ENST00000532462.1_Missense_Mutation_p.A628S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	628					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.A628S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACCACATCTGCCACTGAAGTG	0.453000													33	72					1.30998e-17	1.84216e-17	0.812448	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121674370	121674370	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:121674370C>G	ENST00000393386.2	+	17	5633	c.5222C>G	c.(5221-5223)aCa>aGa	p.T1741R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T874R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1741	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.A1741G(1)|p.T1741R(1)		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						TTAGGTATTACAGCAGACAGC	0.343000													15	34					0	0	0.500413	0	0
GHRHR	2692	broad.mit.edu	37	7	31013715	31013715	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:31013715C>G	ENST00000409904.3	+	4	779	c.521C>G	c.(520-522)tCa>tGa	p.S174*	GHRHR_ENST00000326139.2_Nonsense_Mutation_p.S238*|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	238					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.S238*(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)	TCCCCCAGCTCAAGGAGAGCC	0.632000													13	156					0	0	0.411799	0	0
NADK2	133686	broad.mit.edu	37	5	36201245	36201245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:36201245C>A	ENST00000397338.1	-	9	707	c.486G>T	c.(484-486)agG>agT	p.R162S	NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000506945.1_Missense_Mutation_p.R184S|NADK2_ENST00000381937.4_Missense_Mutation_p.R325S|NADK2_ENST00000282512.3_Missense_Mutation_p.R162S|NADK2_ENST00000514504.1_Missense_Mutation_p.R293S					NAD kinase 2, mitochondrial									p.R325S(1)|p.R162S(1)									GAGTTGCAACCCTGTTAATAT	0.338000													18	107					8.28177e-16	1.13197e-15	0.557998	1	0
OR4A15	81328	broad.mit.edu	37	11	55135422	55135422	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:55135422C>A	ENST00000314706.3	+	1	63	c.63C>A	c.(61-63)caC>caA	p.H21Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H21Q(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						GGCTCCGACACCTGAGTCCAA	0.418000													9	28					7.48243e-07	8.43395e-07	0.335167	1	0
KIAA1109	84162	broad.mit.edu	37	4	123255688	123255688	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:123255688C>T	ENST00000264501.4	+	69	12209	c.11836C>T	c.(11836-11838)Cct>Tct	p.P3946S	KIAA1109_ENST00000388738.3_Missense_Mutation_p.P3946S			Q2LD37	K1109_HUMAN	KIAA1109	3946					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P3946S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCAGCCCCCACCTATTCCTGC	0.393000													18	58					0	0	0.592651	0	0
PASK	23178	broad.mit.edu	37	2	242065726	242065726	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:242065726G>A	ENST00000403638.3	-	10	2695	c.2604C>T	c.(2602-2604)aaC>aaT	p.N868N	PASK_ENST00000544142.1_Silent_p.N682N|PASK_ENST00000405260.1_Silent_p.N868N|PASK_ENST00000539818.1_Silent_p.N652N|PASK_ENST00000234040.4_Silent_p.N868N|PASK_ENST00000358649.4_Silent_p.N868N	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	868					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.N868N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGACCTGGACGTTCAGCCTTG	0.627000													29	85					0	0	0.750413	0	0
SGIP1	84251	broad.mit.edu	37	1	67147825	67147825	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:67147825C>A	ENST00000371037.4	+	15	1165	c.1088C>A	c.(1087-1089)cCt>cAt	p.P363H	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P367H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	363	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.P363H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCCCAGGGCCTCCTGGGCCT	0.562000													66	40					1.79293e-35	2.85018e-35	0.870114	1	0
ABCC11	85320	broad.mit.edu	37	16	48249115	48249115	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:48249115G>A	ENST00000394747.1	-	7	1441	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	ABCC11_ENST00000537808.1_Silent_p.I364I|ABCC11_ENST00000394748.1_Silent_p.I364I|ABCC11_ENST00000356608.2_Silent_p.I364I|ABCC11_ENST00000353782.5_Silent_p.I364I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	364	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I364I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TACCTTCAATGATTTTTGCAA	0.443000													20	78					0	0	0.592651	0	0
DDX23	9416	broad.mit.edu	37	12	49231325	49231325	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:49231325C>T	ENST00000308025.3	-	7	814	c.735G>A	c.(733-735)aaG>aaA	p.K245K	DDX23_ENST00000553182.1_Intron	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	245						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.K245K(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CATGCAGTTCCTTGCTCTTAT	0.512000													35	66					0	0	0.779181	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369467	86369467	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:86369467G>C	ENST00000400286.2	-	2	1775	c.1177C>G	c.(1177-1179)Cac>Gac	p.H393D		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	393						integral to membrane		p.H393D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTCCCAAGTGAAGCATTTCC	0.363000													23	25					0	0	0.624587	0	0
ELANE	1991	broad.mit.edu	37	19	855664	855664	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:855664G>T	ENST00000590230.1	+	5	608	c.467G>T	c.(466-468)tGg>tTg	p.W156L	ELANE_ENST00000263621.1_Missense_Mutation_p.W156L			P08246	ELNE_HUMAN	elastase, neutrophil expressed	156	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	p.W156L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCCATGGGCTGGGGCCTTCTG	0.687000													56	16					3.21867e-24	4.81745e-24	0.870114	1	0
TLL1	7092	broad.mit.edu	37	4	166976321	166976321	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:166976321G>A	ENST00000061240.2	+	13	2265	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	TLL1_ENST00000507499.1_Missense_Mutation_p.D563N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	540	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D540N(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)		CTGTGGTTATGACAAACCTGA	0.398000													23	73					0	0	0.639603	0	0
PPP1R36	145376	broad.mit.edu	37	14	65054946	65054946	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:65054946G>T	ENST00000298705.1	+	11	1111	c.1015G>T	c.(1015-1017)Gta>Tta	p.V339L	RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	339								p.V339L(1)|p.V339I(1)									GTATCATCAAGTAGACGTCAG	0.458000													36	68					2.87052e-16	3.95119e-16	0.812448	1	0
C8orf22	492307	broad.mit.edu	37	8	49986681	49986681	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:49986681A>G	ENST00000303202.8	+	3	292	c.119A>G	c.(118-120)gAc>gGc	p.D40G	C8orf22_ENST00000522267.1_Missense_Mutation_p.D40G|C8orf22_ENST00000517663.1_Missense_Mutation_p.D40G|C8orf22_ENST00000399653.4_Missense_Mutation_p.D40G	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	40								p.D40G(1)		large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGATGACGACAAACCACAG	0.294000													9	31					0	0	0.335167	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_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								3	35					0	0	0.115264	0	0
FSTL5	56884	broad.mit.edu	37	4	162841740	162841740	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:162841740G>A	ENST00000306100.5	-	4	661	c.225C>T	c.(223-225)caC>caT	p.H75H	FSTL5_ENST00000427802.2_Silent_p.H74H|FSTL5_ENST00000379164.4_Silent_p.H74H|FSTL5_ENST00000536695.1_Silent_p.H74H	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	75						extracellular region	calcium ion binding	p.H75H(2)		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)		TGGTAACACAGTGTCTTCCCA	0.408000													9	29					0	0	0.361761	0	0
CRYBA2	1412	broad.mit.edu	37	2	219856956	219856956	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:219856956G>A	ENST00000295728.2	-	2	407	c.171C>T	c.(169-171)gcC>gcT	p.A57A	CRYBA2_ENST00000392096.2_Silent_p.A57A	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	57	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens	p.A57A(1)		endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTACTCAAAGGCCACCCAAC	0.592000													25	19					0	0	0.681144	0	0
EVX2	344191	broad.mit.edu	37	2	176948269	176948269	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:176948269A>G	ENST00000308618.4	-	1	372	c.236T>C	c.(235-237)cTg>cCg	p.L79P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	79						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L79P(1)		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)		CGTGTGCTGCAGGTTGAACAA	0.647000													10	39					0	0	0.361761	0	0
NAALADL1	10004	broad.mit.edu	37	11	64815849	64815849	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:64815849G>T	ENST00000358658.3	-	9	1234	c.1207C>A	c.(1207-1209)Cgt>Agt	p.R403S	NAALADL1_ENST00000340252.4_Missense_Mutation_p.R454S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R403S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R362S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R368S|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R403S|NAALADL1_ENST00000528884.1_5'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	403	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R403S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTGCGAGGACGCCAGGTGCCT	0.602000													11	63					0.000673444	0.000707298	0.361761	1	0
PABPC5	140886	broad.mit.edu	37	X	90691644	90691644	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:90691644A>T	ENST00000312600.3	+	2	1282	c.1068A>T	c.(1066-1068)aaA>aaT	p.K356N	PABPC5_ENST00000373105.1_Missense_Mutation_p.K192N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	356	RRM 4.					cytoplasm	nucleotide binding|RNA binding	p.K356N(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGGCTACCAAAGCAGTGGATG	0.527000													31	4					0	0	0.760397	0	0
CLDN12	9069	broad.mit.edu	37	7	90042182	90042182	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:90042182C>T	ENST00000535571.1	+	2	501	c.192C>T	c.(190-192)agC>agT	p.S64S	CLDN12_ENST00000287916.4_Silent_p.S64S|CLDN12_ENST00000394605.2_Silent_p.S64S	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	64					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.S64S(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						ATGACGGGAGCAGTGACTGCC	0.512000													56	50					0	0	0.870114	0	0
LRP1	4035	broad.mit.edu	37	12	57569264	57569264	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:57569264G>A	ENST00000243077.3	+	23	4035	c.3569G>A	c.(3568-3570)gGt>gAt	p.G1190D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1190	EGF-like 5.				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.G1190D(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)	CTGAATAACGGTGGCTGCAGC	0.627000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	13					0	0	0.760397	0	0
KDM6A	7403	broad.mit.edu	37	X	44928907	44928907	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:44928907C>T	ENST00000377967.4	+	17	2048	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	KDM6A_ENST00000382899.4_Silent_p.L676L|KDM6A_ENST00000543216.1_Silent_p.L590L|KDM6A_ENST00000536777.1_Silent_p.L624L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	669					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.L669L(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCCAGCATCTCCAGGCAGCTG	0.512000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								20	4					0	0	0.592651	0	0
PAX4	5078	broad.mit.edu	37	7	127255536	127255536	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:127255536G>T	ENST00000341640.2	-	1	244	c.39C>A	c.(37-39)ccC>ccA	p.P13P	PAX4_ENST00000338516.3_Silent_p.P21P|PAX4_ENST00000378740.2_Silent_p.P13P|PAX4_ENST00000463946.1_5'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	21	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P13P(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGAGGCAGGGGCCGGCCAT	0.602000													35	62					4.10981e-09	4.91665e-09	0.812448	1	0
RYR1	6261	broad.mit.edu	37	19	38995479	38995479	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:38995479C>G	ENST00000355481.4	+	51	8290	c.8159C>G	c.(8158-8160)tCa>tGa	p.S2720*	RYR1_ENST00000359596.3_Nonsense_Mutation_p.S2720*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.S2720*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2720	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S2720*(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCTCATACTCATCTAAGGCA	0.582000													14	21					0	0	0.500413	0	0
ANKRD29	147463	broad.mit.edu	37	18	21229076	21229076	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:21229076C>A	ENST00000592179.1	-	2	257	c.103G>T	c.(103-105)Ggc>Tgc	p.G35C	ANKRD29_ENST00000284207.7_Missense_Mutation_p.G35C|ANKRD29_ENST00000322980.9_Missense_Mutation_p.G35C	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	35								p.G35C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCACCCGGCCGCTGTTCAAC	0.567000													16	33					8.00594e-06	8.77055e-06	0.557998	1	0
NLRP3	114548	broad.mit.edu	37	1	247587935	247587935	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:247587935G>T	ENST00000366497.2	+	4	1970	c.1190G>T	c.(1189-1191)aGt>aTt	p.S397I	NLRP3_ENST00000366496.2_Missense_Mutation_p.S397I|NLRP3_ENST00000391827.2_Missense_Mutation_p.S397I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.S397I|NLRP3_ENST00000336119.3_Missense_Mutation_p.S397I|NLRP3_ENST00000391828.3_Missense_Mutation_p.S397I	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	397	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.S397I(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)			GCAGCCTTCAGTCTGATTCAG	0.537000													30	29					3.1745e-13	4.17321e-13	0.729181	1	0
ANKRD53	79998	broad.mit.edu	37	2	71209077	71209077	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:71209077A>G	ENST00000272421.6	+	4	895	c.629A>G	c.(628-630)aAc>aGc	p.N210S	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.N176S|ANKRD53_ENST00000360589.3_Missense_Mutation_p.N210S	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	210								p.N210S(2)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CAGACATGCAACGGCTCCACG	0.577000													21	52					0	0	0.667858	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046279	42046279	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:42046279C>G	ENST00000372584.1	-	3	5204	c.4190G>C	c.(4189-4191)aGa>aCa	p.R1397T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1397T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1397T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1397T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1397					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R1397T(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACAGGCACTCTCAGGTATGG	0.522000													28	58					0	0	0.681144	0	0
SCN3A	6328	broad.mit.edu	37	2	165984542	165984542	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:165984542C>G	ENST00000360093.3	-	18	3483	c.2992G>C	c.(2992-2994)Gac>Cac	p.D998H	SCN3A_ENST00000283254.7_Missense_Mutation_p.D998H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D949H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	998						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D949H(1)|p.D998H(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATTTCATTGTCATCATCAGTA	0.343000													16	46					0	0	0.557998	0	0
LMNB2	84823	broad.mit.edu	37	19	2434013	2434013	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:2434013C>A	ENST00000325327.3	-	8	1355	c.1293G>T	c.(1291-1293)ctG>ctT	p.L431L	LMNB2_ENST00000582871.1_Silent_p.L411L			Q03252	LMNB2_HUMAN	lamin B2	411	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity	p.L411L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTGCGGCCCAGGCGCCCGG	0.716000													7	3					0.000157383	0.000167704	0.278610	1	0
PARL	55486	broad.mit.edu	37	3	183547410	183547410	+	Silent	SNP	G	G	A	rs17849792		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:183547410G>A	ENST00000317096.4	-	10	1176	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	PARL_ENST00000435888.1_Silent_p.P288P|PARL_ENST00000311101.5_Silent_p.P322P	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	372					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.P372P(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCCTTTTTTGGGGCCATTAG	0.483000													68	132					0	0	0.870114	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803425	142803425	+	RNA	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:142803425C>G	ENST00000423385.1	-	0	1540																											gcctcatcctctcaagtagtt	0.348000													4	24					0	0	0.150653	0	0
BSCL2	26580	broad.mit.edu	37	11	62459865	62459865	+	Silent	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:62459865C>G	ENST00000433053.1	-	7	1402	c.846G>C	c.(844-846)gcG>gcC	p.A282A	BSCL2_ENST00000403550.1_Silent_p.A218A|BSCL2_ENST00000405837.1_Silent_p.A282A|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Silent_p.A218A|BSCL2_ENST00000421906.1_Silent_p.A218A|BSCL2_ENST00000360796.5_Silent_p.A282A|BSCL2_ENST00000278893.7_Silent_p.A218A			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	218					cell death	integral to endoplasmic reticulum membrane		p.A218A(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGTGAAGTGCGCGTGGATGC	0.597000													6	33					0	0	0.217242	0	0
LRRC10	376132	broad.mit.edu	37	12	70004114	70004114	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:70004114G>T	ENST00000361484.3	-	1	828	c.505C>A	c.(505-507)Ctg>Atg	p.L169M		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	169						nucleus		p.L169M(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			ATGGTCCTCAGCTCCTGGAGG	0.602000													27	22					1.75199e-13	2.31357e-13	0.717897	1	0
RIMS4	140730	broad.mit.edu	37	20	43399960	43399960	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:43399960G>A	ENST00000372851.3	-	2	258	c.192C>T	c.(190-192)caC>caT	p.H64H	RIMS4_ENST00000541604.2_Silent_p.H65H	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	64					exocytosis|neurotransmitter transport	cell junction|synapse		p.H64H(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)				CAATGGACTCGTGGCTGGCCT	0.637000													39	42					0	0	0.804634	0	0
SLC4A9	83697	broad.mit.edu	37	5	139742515	139742515	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:139742515C>T	ENST00000230993.6	+	7	933	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.R300C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R276C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R276C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R276C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	300						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.R300C(2)|p.R274C(1)|p.R274S(1)|p.R300S(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTCAGTTCGTCGGGCCAG	0.542000											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	49					0	0	0.654019	0	0
DNAH5	1767	broad.mit.edu	37	5	13766118	13766118	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:13766118C>T	ENST00000265104.4	-	59	10172	c.10068G>A	c.(10066-10068)ttG>ttA	p.L3356L	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3356	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3356L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGCAGTCATCAATTTTAAGG	0.443000									Kartagener syndrome				68	107					0	0	0.870114	0	0
MBD1	4152	broad.mit.edu	37	18	47802296	47802296	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:47802296C>A	ENST00000591416.1	-	7	1003	c.572G>T	c.(571-573)tGc>tTc	p.C191F	MBD1_ENST00000585595.1_Missense_Mutation_p.C191F|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000588937.1_Missense_Mutation_p.C191F|MBD1_ENST00000591535.1_Missense_Mutation_p.C191F|MBD1_ENST00000590208.1_Missense_Mutation_p.C191F|MBD1_ENST00000587605.1_Missense_Mutation_p.C191F|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.C191F|MBD1_ENST00000424334.2_Missense_Mutation_p.C217F|MBD1_ENST00000347968.3_Missense_Mutation_p.C191F|MBD1_ENST00000349085.2_Missense_Mutation_p.C191F|MBD1_ENST00000398488.1_Missense_Mutation_p.C191F|MBD1_ENST00000269468.5_Missense_Mutation_p.C191F|MBD1_ENST00000398493.1_Missense_Mutation_p.C191F|MBD1_ENST00000269471.5_Missense_Mutation_p.C191F|MBD1_ENST00000457839.2_Missense_Mutation_p.C191F|MBD1_ENST00000382948.5_Missense_Mutation_p.C191F|MBD1_ENST00000436910.1_Missense_Mutation_p.C191F|MBD1_ENST00000398495.2_Missense_Mutation_p.C191F			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	191					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.C191F(4)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GCAGGTGGAGCAGGCCCCACA	0.622000													18	16					3.32936e-07	3.77456e-07	0.539581	1	0
SLC24A5	283652	broad.mit.edu	37	15	48414089	48414089	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:48414089G>C	ENST00000482911.2	+	2	198	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000341459.3_Missense_Mutation_p.E53Q			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	53					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.E53K(1)|p.E53Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TCCATCATCGGAGTTTCCCGA	0.423000													22	57					0	0	0.608945	0	0
MICAL2	9645	broad.mit.edu	37	11	12247751	12247751	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:12247751G>T	ENST00000256194.4	+	14	2010	c.1722G>T	c.(1720-1722)gtG>gtT	p.V574V	MICAL2_ENST00000379612.3_Silent_p.V574V|MICAL2_ENST00000527546.1_Silent_p.V574V|MICAL2_ENST00000537344.1_Silent_p.V574V|MICAL2_ENST00000342902.5_Silent_p.V574V	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	574	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.V574V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATGATGCTGTGGAGAACAACC	0.522000													9	39					0.000274275	0.000290146	0.307466	1	0
CPNE5	57699	broad.mit.edu	37	6	36710126	36710126	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:36710126G>T	ENST00000244751.2	-	21	2325	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	CPNE5_ENST00000393189.2_Silent_p.P275P|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	567								p.P567P(1)		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						CTGCGGGTGGGGGACGCGGGC	0.682000													49	22					3.39706e-21	4.99316e-21	0.870114	1	0
DGKI	9162	broad.mit.edu	37	7	137150727	137150727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:137150727G>T	ENST00000453654.1	-	27	2232	c.1693C>A	c.(1693-1695)Cca>Aca	p.P565T	DGKI_ENST00000288490.5_Missense_Mutation_p.P855T|DGKI_ENST00000446122.1_Missense_Mutation_p.P837T|DGKI_ENST00000424189.2_Missense_Mutation_p.P868T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	855					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.P855T(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						ACCATATCTGGGTCCAGAATA	0.498000													9	64					1.76689e-08	2.06314e-08	0.335167	1	0
DNAH1	25981	broad.mit.edu	37	3	52416461	52416461	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:52416461C>T	ENST00000420323.2	+	50	8192	c.7931C>T	c.(7930-7932)tCa>tTa	p.S2644L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2644	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S2644L(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCCTCTTCTCAGACACCCAG	0.587000													31	73					0	0	0.760397	0	0
WDR25	79446	broad.mit.edu	37	14	100996231	100996231	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:100996231G>T	ENST00000335290.6	+	7	1714	c.1488G>T	c.(1486-1488)cgG>cgT	p.R496R	WDR25_ENST00000554998.1_Silent_p.R496R|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R496R|WDR25_ENST00000542471.2_Silent_p.R239R	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	496								p.R496R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CCGATGGCCGGGTCCTGATGT	0.667000													16	41					5.35356e-11	6.64932e-11	0.639603	1	0
MUC7	4589	broad.mit.edu	37	4	71347026	71347026	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:71347026A>T	ENST00000413702.1	+	4	853	c.565A>T	c.(565-567)Aca>Tca	p.T189S	MUC7_ENST00000304887.5_Missense_Mutation_p.T189S|MUC7_ENST00000456088.1_Missense_Mutation_p.T189S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	189	Thr-rich.					extracellular region	protein binding	p.T189S(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)			ACCAGAGACCACAGCTGCCCC	0.587000													18	68					0	0	0.575678	0	0
FAM135B	51059	broad.mit.edu	37	8	139263227	139263227	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:139263227G>T	ENST00000395297.1	-	6	569	c.399C>A	c.(397-399)gtC>gtA	p.V133V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	133								p.V133V(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)			TTCGGCTGCTGACCATCGGTG	0.582000										HNSCC(54;0.14)			21	126					7.92952e-12	1.00406e-11	0.667858	1	0
ZNF521	25925	broad.mit.edu	37	18	22806774	22806774	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:22806774T>A	ENST00000361524.3	-	4	1256	c.1108A>T	c.(1108-1110)Atg>Ttg	p.M370L	ZNF521_ENST00000538137.2_Missense_Mutation_p.M370L|ZNF521_ENST00000584787.1_Missense_Mutation_p.M150L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	370					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.M370L(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)					GCTTCCACCATGGTTGAGCTG	0.557000			T	PAX5	ALL								25	26					0	0	0.667858	0	0
OLAH	55301	broad.mit.edu	37	10	15103815	15103815	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:15103815C>G	ENST00000378217.3	+	5	602	c.415C>G	c.(415-417)Ctg>Gtg	p.L139V	OLAH_ENST00000378228.3_Missense_Mutation_p.L86V	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	86					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	p.L139V(1)		endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGTTTGTGCTCTGCAGCCAGT	0.408000													28	115					0	0	0.740014	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996273	57996273	+	Silent	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:57996273A>G	ENST00000316770.2	-	1	117	c.75T>C	c.(73-75)acT>acC	p.T25T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T25T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CCTGGAATTCAGTGGCTGTGG	0.517000													25	80					0	0	0.667858	0	0
IL17RE	132014	broad.mit.edu	37	3	9956381	9956381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:9956381G>T	ENST00000295980.3	+	16	1484	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	IL17RE_ENST00000421412.1_Missense_Mutation_p.G489V|IL17RE_ENST00000383814.3_Missense_Mutation_p.G456V|IL17RE_ENST00000454190.2_Silent_p.G480G	NM_153483.2	NP_705616.2	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	456						cytoplasm|extracellular region|integral to membrane	receptor activity	p.G456V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		AGACACCTGGGGCTCTTGATC	0.607000													55	52					1.4709e-25	2.22921e-25	0.870114	1	0
CA3	761	broad.mit.edu	37	8	86354306	86354306	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:86354306G>A	ENST00000285381.2	+	3	320	c.237G>A	c.(235-237)ctG>ctA	p.L79L	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	79					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.L79L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCACAGTGCTGAGAGGGGGTC	0.498000													16	79					0	0	0.557998	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573673	140573673	+	Silent	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:140573673C>G	ENST00000239446.4	+	1	1732	c.1548C>G	c.(1546-1548)ctC>ctG	p.L516L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		516	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L516L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGCCCTCAGGTCGCTGG	0.706000													37	165					0	0	0.812448	0	0
ITPR2	3709	broad.mit.edu	37	12	26636704	26636704	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:26636704T>C	ENST00000381340.3	-	42	6355	c.5939A>G	c.(5938-5940)aAg>aGg	p.K1980R		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1980					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	p.K1980R(1)	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)					CGCTACATTCTTCTCATTGAT	0.473000													43	128					0	0	0.870114	0	0
CCDC178	374864	broad.mit.edu	37	18	30803087	30803087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:30803087C>T	ENST00000383096.3	-	18	2097	c.1915G>A	c.(1915-1917)Gca>Aca	p.A639T	CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.A639T|CCDC178_ENST00000579947.1_Missense_Mutation_p.A639T|CCDC178_ENST00000402325.1_Missense_Mutation_p.A639T|CCDC178_ENST00000583930.1_Missense_Mutation_p.A639T|CCDC178_ENST00000406524.2_Missense_Mutation_p.A639T|CCDC178_ENST00000579916.1_Intron					coiled-coil domain containing 178									p.A639T(1)									TCTATTAATGCATCAAGGGTT	0.269000													7	34					0	0	0.278610	0	0
CPA1	1357	broad.mit.edu	37	7	130023266	130023266	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:130023266G>C	ENST00000011292.3	+	5	668	c.518G>C	c.(517-519)tGg>tCg	p.W173S	CPA1_ENST00000484324.1_Missense_Mutation_p.W85S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	173					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.W173S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCAGCCATCTGGATCGACACG	0.612000													10	23					0	0	0.361761	0	0
USH2A	7399	broad.mit.edu	37	1	216138678	216138678	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:216138678C>A	ENST00000366943.2	-	37	7487	c.7101G>T	c.(7099-7101)ggG>ggT	p.G2367G	USH2A_ENST00000307340.3_Silent_p.G2367G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2367	Fibronectin type-III 10.				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.G2367V(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)		CATAGAATATCCCAGTGAAAA	0.358000										HNSCC(13;0.011)			31	100					4.74835e-14	6.29884e-14	0.750413	1	0
UNC79	57578	broad.mit.edu	37	14	93962804	93962804	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:93962804G>T	ENST00000553484.1	+	6	914	c.760G>T	c.(760-762)Gtc>Ttc	p.V254F	UNC79_ENST00000555664.1_Missense_Mutation_p.V254F|UNC79_ENST00000256339.4_Missense_Mutation_p.V77F|UNC79_ENST00000393151.2_Missense_Mutation_p.V254F			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	254						integral to membrane		p.V77F(1)|p.V254F(1)		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						TAAACAAGAAGTCTGGAAAGT	0.289000													34	58					8.73648e-17	1.20824e-16	0.796494	1	0
FAP	2191	broad.mit.edu	37	2	163051221	163051221	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:163051221G>T	ENST00000188790.4	-	17	1647	c.1440C>A	c.(1438-1440)cgC>cgA	p.R480R	FAP_ENST00000443424.1_Silent_p.R455R	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	480					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.R480R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CTTGATCAGTGCGTCCATCAT	0.448000													16	34					4.7546e-09	5.67641e-09	0.500413	1	0
QSER1	79832	broad.mit.edu	37	11	32956717	32956717	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:32956717A>T	ENST00000399302.2	+	4	3861	c.3526A>T	c.(3526-3528)Act>Tct	p.T1176S	QSER1_ENST00000527788.1_Missense_Mutation_p.T937S	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1176								p.T1176S(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GCCTAACAGGACTAGACGGCC	0.483000													25	32					0	0	0.654019	0	0
HCN1	348980	broad.mit.edu	37	5	45262467	45262467	+	Silent	SNP	C	C	T	rs143994644	by1000genomes	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:45262467C>T	ENST00000303230.4	-	8	2286	c.2229G>A	c.(2227-2229)ccG>ccA	p.P743P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	743	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P743P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gagtctgcggcggctgggact	0.637000													17	21					0	0	0.557998	0	0
NLRP14	338323	broad.mit.edu	37	11	7059877	7059877	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:7059877G>A	ENST00000299481.4	+	2	406	c.60G>A	c.(58-60)gaG>gaA	p.E20E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	20	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E20E(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)		TGTATTTGGAGGAGCTAAACA	0.413000													23	43					0	0	0.654019	0	0
DPP4	1803	broad.mit.edu	37	2	162875299	162875299	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:162875299A>T	ENST00000360534.3	-	16	1920	c.1360T>A	c.(1360-1362)Tgt>Agt	p.C454S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	454					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.C454S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TAGTACTGACACCTTTCCGGA	0.458000													25	68					0	0	0.706142	0	0
DIS3	22894	broad.mit.edu	37	13	73348154	73348154	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:73348154C>G	ENST00000377767.4	-	7	1131	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	DIS3_ENST00000545453.1_Missense_Mutation_p.R182T|DIS3_ENST00000377780.4_Missense_Mutation_p.R314T	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	344					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.R344T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCCTACAACTCTACCTGTAGG	0.333000										Multiple Myeloma(4;0.011)			20	56					0	0	0.575678	0	0
CARD6	84674	broad.mit.edu	37	5	40853546	40853546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:40853546G>T	ENST00000254691.5	+	3	2311	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	704					apoptosis|regulation of apoptosis	intracellular		p.E704D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAATTCAAGAGCCTGGGACTC	0.483000													79	164					1.25742e-37	2.00981e-37	0.870114	1	0
NRXN1	9378	broad.mit.edu	37	2	50463964	50463964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:50463964C>A	ENST00000404971.1	-	19	4968	c.3629G>T	c.(3628-3630)aGt>aTt	p.S1210I	NRXN1_ENST00000406859.3_Missense_Mutation_p.S1170I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1170I|NRXN1_ENST00000401710.1_Missense_Mutation_p.S188I|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1162I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1170I|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1162I|NRXN1_ENST00000342183.5_Missense_Mutation_p.S135I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1170	Laminin G-like 6.				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.S135I(1)|p.S1170I(1)|p.S1210I(1)|p.S1211I(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)			GCCTGAAGAACTGTCCACTCG	0.408000													13	30					0.000308642	0.000325913	0.479597	1	0
KCNH7	90134	broad.mit.edu	37	2	163693092	163693092	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:163693092C>G	ENST00000332142.5	-	2	361	c.262G>C	c.(262-264)Ggg>Cgg	p.G88R	KCNH7_ENST00000328032.4_Missense_Mutation_p.G88R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	88					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G88R(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCTGACCCCAGCAATGCC	0.448000													9	44					0	0	0.307466	0	0
FLNB	2317	broad.mit.edu	37	3	58135872	58135872	+	Silent	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:58135872C>G	ENST00000357272.4	+	38	6450	c.6285C>G	c.(6283-6285)gtC>gtG	p.V2095V	FLNB_ENST00000429972.2_Silent_p.V2084V|FLNB_ENST00000419752.2_Silent_p.V1915V|FLNB_ENST00000493452.1_Silent_p.V1902V|FLNB_ENST00000490882.1_Silent_p.V2126V|FLNB_ENST00000358537.3_Silent_p.V2071V|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000295956.4_Silent_p.V2095V			O75369	FLNB_HUMAN	filamin B, beta	2095	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.V2126V(1)|p.V2095V(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGGAAGAGTCAAAGAGAGCA	0.592000													34	83					0	0	0.804634	0	0
FAT4	79633	broad.mit.edu	37	4	126328197	126328197	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:126328197G>T	ENST00000394329.3	+	3	5483	c.5470G>T	c.(5470-5472)Gat>Tat	p.D1824Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D122Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1824	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1824Y(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						TCAGTCCTCGGATATGAGAAT	0.478000													36	112					6.97489e-18	9.85582e-18	0.804634	1	0
C9orf131	138724	broad.mit.edu	37	9	35045018	35045018	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:35045018C>A	ENST00000312292.5	+	2	2439	c.2392C>A	c.(2392-2394)Cct>Act	p.P798T	C9orf131_ENST00000421362.2_Missense_Mutation_p.P750T|C9orf131_ENST00000354479.5_Missense_Mutation_p.P725T	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	798								p.P798T(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCGGCAGAGCCCTGCCTCCAG	0.572000													180	69					2.59874e-77	4.28243e-77	0.870114	1	0
EPHB1	2047	broad.mit.edu	37	3	134670814	134670814	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:134670814G>T	ENST00000398015.3	+	3	1095	c.725G>T	c.(724-726)gGg>gTg	p.G242V	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	242	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G242V(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						TACTGCAACGGGGATGGGGAA	0.572000													71	35					3.05759e-45	4.95482e-45	0.870114	1	0
MAGEC3	139081	broad.mit.edu	37	X	140969218	140969218	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:140969218A>G	ENST00000298296.1	+	4	545	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	182								p.Y182C(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)					TTGTTCACTTATACACTGGAT	0.448000													29	43					0	0	0.729181	0	0
NTNG2	84628	broad.mit.edu	37	9	135114645	135114645	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:135114645G>T	ENST00000393229.3	+	6	1985	c.1209G>T	c.(1207-1209)gaG>gaT	p.E403D	NTNG2_ENST00000360670.3_Missense_Mutation_p.E409D|NTNG2_ENST00000393228.4_Missense_Mutation_p.E395D	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	403	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane		p.E403D(1)		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)		TGGATGATGAGAACGTCTGCA	0.647000													10	32					1.08611e-07	1.24096e-07	0.387290	1	0
MYLIP	29116	broad.mit.edu	37	6	16130937	16130937	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:16130937G>T	ENST00000356840.3	+	2	435	c.237G>T	c.(235-237)aaG>aaT	p.K79N	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	79	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.K79N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TTAGAGTCAAGTTCTTCGTGG	0.453000													14	59					2.32078e-09	2.79354e-09	0.479597	1	0
AADACL4	343066	broad.mit.edu	37	1	12726347	12726347	+	Silent	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:12726347A>G	ENST00000376221.1	+	4	825	c.825A>G	c.(823-825)ccA>ccG	p.P275P		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	275						integral to membrane	carboxylesterase activity	p.P275P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|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;0.0384)		GTGTACCCCCAGACGTCTGGA	0.517000													37	76					0	0	0.827153	0	0
INSRR	3645	broad.mit.edu	37	1	156811945	156811945	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:156811945C>A	ENST00000368195.3	-	19	3752	c.3356G>T	c.(3355-3357)cGc>cTc	p.R1119L	NTRK1_ENST00000392302.2_Silent_p.R28R	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1119	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R1119L(2)|p.R28R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATGCAGTTGCGGGCTGCTAG	0.562000													8	15					0.00829132	0.00853947	0.361761	1	0
BBS9	27241	broad.mit.edu	37	7	33427748	33427748	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:33427748T>A	ENST00000242067.6	+	19	2628	c.2107T>A	c.(2107-2109)Tac>Aac	p.Y703N	BBS9_ENST00000396127.2_Missense_Mutation_p.Y668N|BBS9_ENST00000354265.4_Missense_Mutation_p.Y668N|BBS9_ENST00000350941.3_Missense_Mutation_p.Y663N|BBS9_ENST00000355070.2_Missense_Mutation_p.Y698N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	703					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.Y703N(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGATGGAACCTACAAGCAGGT	0.413000									Bardet-Biedl syndrome				45	156					0	0	0.870114	0	0
POLR3A	11128	broad.mit.edu	37	10	79777351	79777351	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:79777351C>G	ENST00000372371.3	-	10	1550	c.1413G>C	c.(1411-1413)ttG>ttC	p.L471F	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	471					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.L471F(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCATAATGCTCAATTTGTGCA	0.438000													14	39					0	0	0.500413	0	0
TMEM131	23505	broad.mit.edu	37	2	98408868	98408868	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:98408868C>A	ENST00000186436.5	-	31	4353	c.4125G>T	c.(4123-4125)tcG>tcT	p.S1375S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1375						integral to membrane		p.S1375S(1)|p.S1262S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTGGCAATGGCGATGGAGGCT	0.502000													6	23					2.0095e-06	2.2349e-06	0.248553	1	0
OR1C1	26188	broad.mit.edu	37	1	247921054	247921054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:247921054C>A	ENST00000408896.2	-	1	928	c.655G>T	c.(655-657)Gga>Tga	p.G219*		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G219*(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)			AAGATAAGTCCATAAGATACG	0.483000													8	20					5.18039e-06	5.69648e-06	0.278610	1	0
ERMN	57471	broad.mit.edu	37	2	158178194	158178194	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:158178194C>T	ENST00000410096.1	-	3	735	c.444G>A	c.(442-444)aaG>aaA	p.K148K	ERMN_ENST00000420719.2_Silent_p.K128K|ERMN_ENST00000397283.2_Silent_p.K161K|ERMN_ENST00000535935.1_Silent_p.K42K	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	148						cytoplasm|cytoskeleton		p.K161K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GACCTTTGTTCTTCCTGTCCT	0.453000													48	63					0	0	0.870114	0	0
CHD6	84181	broad.mit.edu	37	20	40081486	40081486	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:40081486T>A	ENST00000373233.3	-	21	3394	c.3217A>T	c.(3217-3219)Agc>Tgc	p.S1073C	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1073					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.S1073C(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTGAGTCGCTGTCTAACTCT	0.537000													17	54					0	0	0.539581	0	0
TDP1	55775	broad.mit.edu	37	14	90455297	90455297	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:90455297G>T	ENST00000335725.4	+	11	1430	c.1180G>T	c.(1180-1182)Gtc>Ttc	p.V394F	TDP1_ENST00000357382.3_Missense_Mutation_p.V155F|TDP1_ENST00000393454.2_Missense_Mutation_p.V394F|TDP1_ENST00000555880.1_Missense_Mutation_p.V394F|TDP1_ENST00000393452.3_Missense_Mutation_p.V394F	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	394					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.V394F(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTCCTGGCCTGTCGTAGGTCA	0.443000								Repair of DNA-protein crosslinks					13	32					0.000151284	0.000161794	0.435327	1	0
PRKCZ	5590	broad.mit.edu	37	1	2077475	2077475	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:2077475A>G	ENST00000400921.2	+	4	696	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	PRKCZ_ENST00000400920.1_Missense_Mutation_p.M5V|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	188					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	p.M188V(2)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GGATTCTGTCATGCCTTCCCA	0.512000													16	47					0	0	0.520397	0	0
CDCA8	55143	broad.mit.edu	37	1	38168930	38168930	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:38168930C>T	ENST00000373055.1	+	7	768	c.495C>T	c.(493-495)agC>agT	p.S165S	CDCA8_ENST00000327331.2_Silent_p.S165S	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	165					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	p.S165S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTAGGTCAAGCCGTGCTAACA	0.542000													4	101					0	0	0.184627	0	0
ABCB11	8647	broad.mit.edu	37	2	169869897	169869897	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:169869897C>T	ENST00000263817.6	-	5	398	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	92	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.D92N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACGTCGTAGTCAATAAAAACA	0.423000													44	140					0	0	0.859065	0	0
MIR1185-1	100302157	broad.mit.edu	37	14	101509384	101509384	+	RNA	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:101509384T>C	ENST00000408598.1	+	0	71					NR_031575.1																						GGGGAGACTCTTATTTGCGTA	0.502000													11	51					0	0	0.387290	0	0
KLK10	5655	broad.mit.edu	37	19	51522352	51522352	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:51522352G>C	ENST00000309958.3	-	2	253	c.35C>G	c.(34-36)tCt>tGt	p.S12C	KLK10_ENST00000358789.3_Missense_Mutation_p.S12C|KLK10_ENST00000391805.1_Missense_Mutation_p.S12C	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	12					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity	p.S12C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCGGGCGCCAGAGGCGGCGGA	0.697000													9	2					0	0	0.387290	0	0
HUWE1	10075	broad.mit.edu	37	X	53563173	53563173	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:53563173C>A	ENST00000342160.3	-	79	12923	c.12466G>T	c.(12466-12468)Ggt>Tgt	p.G4156C	HUWE1_ENST00000262854.6_Missense_Mutation_p.G4156C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4156	HECT.				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.G4156C(1)|p.G4046C(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						TAAACCAGACCTTGGTAGAAG	0.453000													31	4					2.68265e-12	3.44156e-12	0.769981	1	0
ZFP57	346171	broad.mit.edu	37	6	29641443	29641443	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:29641443C>A	ENST00000376883.1	-	6	796	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	ZFP57_ENST00000488757.1_Missense_Mutation_p.G149C|ZFP57_ENST00000376881.3_Missense_Mutation_p.G129C			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	78					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.G129C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGGCACTGGCCGGCCCCTCTG	0.562000													72	28					6.20995e-33	9.66176e-33	0.870114	1	0
CDH6	1004	broad.mit.edu	37	5	31323173	31323173	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:31323173G>A	ENST00000265071.2	+	12	2396	c.2131G>A	c.(2131-2133)Gat>Aat	p.D711N		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	711					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D711N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGACAACACCGATGTCAGAGA	0.522000													9	31					0	0	0.307466	0	0
DARC	2532	broad.mit.edu	37	1	159176146	159176146	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:159176146T>A	ENST00000537147.1	+	3	1760	c.917T>A	c.(916-918)cTa>cAa	p.L306Q	DARC_ENST00000368122.2_Missense_Mutation_p.L306Q|DARC_ENST00000368121.2_Missense_Mutation_p.L308Q			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	306					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.L308Q(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCCTCGCCCTATTCTGCCAC	0.587000													144	228					0	0	0.870114	0	0
CXADR	1525	broad.mit.edu	37	21	18919473	18919473	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr21:18919473C>T	ENST00000284878.7	+	2	920	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	CXADR_ENST00000400166.1_Silent_p.L58L|CXADR_ENST00000306618.10_Silent_p.L58L|CXADR_ENST00000400165.1_Silent_p.L58L|CXADR_ENST00000356275.6_Silent_p.L58L|CXADR_ENST00000400169.1_Silent_p.L58L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	58	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	p.L58L(1)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CATCGAGTGGCTGATATCACC	0.473000													16	33					0	0	0.500413	0	0
RYR2	6262	broad.mit.edu	37	1	237948014	237948014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:237948014G>T	ENST00000366574.2	+	90	13319	c.13002G>T	c.(13000-13002)atG>atT	p.M4334I	RYR2_ENST00000542537.1_Missense_Mutation_p.M4318I|RYR2_ENST00000360064.6_Missense_Mutation_p.M4340I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4334					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.M4332I(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)			TAGCCAACATGCCAGACCCCA	0.542000													15	30					1.3612e-06	1.52549e-06	0.479597	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64718908	64718908	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:64718908G>A	ENST00000338957.4	+	3	845	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E249K	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	249							endonuclease activity|nucleic acid binding|zinc ion binding	p.E110K(1)|p.E196K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGGAGAAGGAAAAGATTCT	0.393000													84	19					0	0	0.870114	0	0
PCDH9	5101	broad.mit.edu	37	13	67802318	67802318	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:67802318A>T	ENST00000544246.1	-	2	946	c.255T>A	c.(253-255)atT>atA	p.I85I	PCDH9_ENST00000328454.5_Silent_p.I85I|PCDH9_ENST00000377865.2_Silent_p.I85I|PCDH9_ENST00000456367.1_Silent_p.I85I|PCDH9_ENST00000377861.3_Silent_p.I85I	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	85	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I85M(1)|p.I85I(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)		AGGTTGTGAAAATTTCCCCAG	0.498000													10	29					0	0	0.335167	0	0
ADD1	118	broad.mit.edu	37	4	2901114	2901114	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:2901114G>A	ENST00000355842.3	+	10	1976	c.1113G>A	c.(1111-1113)caG>caA	p.Q371Q	ADD1_ENST00000446856.1_Silent_p.Q371Q|ADD1_ENST00000264758.7_Silent_p.Q371Q|ADD1_ENST00000398129.1_Silent_p.Q371Q|ADD1_ENST00000503455.2_Silent_p.Q371Q|ADD1_ENST00000398123.2_Silent_p.Q371Q|ADD1_ENST00000398125.1_Silent_p.Q371Q|ADD1_ENST00000513328.2_Silent_p.Q371Q			P35611	ADDA_HUMAN	adducin 1 (alpha)	371					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.Q371Q(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)		CCAAGTGGCAGATTGGTGAGC	0.502000													4	21					0	0	0.150653	0	0
DNAH1	25981	broad.mit.edu	37	3	52416447	52416447	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:52416447C>T	ENST00000420323.2	+	50	8178	c.7917C>T	c.(7915-7917)atC>atT	p.I2639I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2639	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2639I(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCTACCCATCACCTTCCTCT	0.577000													27	75					0	0	0.681144	0	0
ELOVL2	54898	broad.mit.edu	37	6	11005668	11005668	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:11005668G>A	ENST00000354666.3	-	3	275	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	64					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.L64L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GGATACCCCTGAGAGAAAGAG	0.433000													18	43					0	0	0.520397	0	0
TTN	7273	broad.mit.edu	37	2	179596608	179596608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:179596608G>T	ENST00000589042.1	-	58	17218	c.16994C>A	c.(16993-16995)cCc>cAc	p.P5665H	TTN_ENST00000342992.6_Missense_Mutation_p.P4421H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5348H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5348	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P4421H(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)			GATCTCAAAGGGAGGAGTGCC	0.423000													18	88					9.16793e-09	1.07912e-08	0.520397	1	0
CABIN1	23523	broad.mit.edu	37	22	24515486	24515486	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr22:24515486G>A	ENST00000398319.2	+	28	4838	c.4453G>A	c.(4453-4455)Gac>Aac	p.D1485N	CABIN1_ENST00000263119.5_Missense_Mutation_p.D1485N|CABIN1_ENST00000405822.2_Missense_Mutation_p.D1406N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1485					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.D1485N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGAGAGGGGACCTCCCAGG	0.647000													16	29					0	0	0.539581	0	0
CSMD3	114788	broad.mit.edu	37	8	113988360	113988360	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:113988360G>C	ENST00000297405.5	-	7	1292	c.1048C>G	c.(1048-1050)Cac>Gac	p.H350D	CSMD3_ENST00000343508.3_Missense_Mutation_p.H310D|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.H350D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	350						integral to membrane|plasma membrane		p.H350D(1)|p.H310D(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						GAGGTAGTGTGGGTCAATGTA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	58					0	0	0.639603	0	0
CACNA1A	773	broad.mit.edu	37	19	13365936	13365936	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:13365936G>A	ENST00000360228.5	-	29	4727	c.4728C>T	c.(4726-4728)gcC>gcT	p.A1576A	CACNA1A_ENST00000573710.2_Silent_p.A1577A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1577					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.A1577A(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGTGTTGAGGGCGATCATGG	0.547000													6	27					0	0	0.248553	0	0
CCNB3	85417	broad.mit.edu	37	X	50053312	50053312	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:50053312G>A	ENST00000376042.1	+	6	2441	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CCNB3_ENST00000276014.7_Missense_Mutation_p.E715K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	715					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.E715K(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGCTTTGCAGGAGAAAAGCAC	0.468000													8	1					0	0	0.307466	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359320	128359320	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:128359320C>A	ENST00000262462.4	+	6	2182	c.1172C>A	c.(1171-1173)tCc>tAc	p.S391Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.S391Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.S391Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	391					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.S391Y(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)		CAGCTTCTTTCCACTTTTGAC	0.318000													10	11					2.80697e-09	3.37183e-09	0.387290	1	0
UTRN	7402	broad.mit.edu	37	6	144769762	144769762	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:144769762G>T	ENST00000367545.3	+	16	1929	c.1929G>T	c.(1927-1929)ggG>ggT	p.G643G		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	643	Interaction with SYNM.				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.G643G(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)		CAAAGCTGGGGATGTCTCAGA	0.403000													19	81					7.45023e-12	9.47474e-12	0.592651	1	0
KIF26B	55083	broad.mit.edu	37	1	245848895	245848895	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:245848895C>A	ENST00000366518.4	+	9	1571	c.1467C>A	c.(1465-1467)ccC>ccA	p.P489P	KIF26B_ENST00000407071.2_Silent_p.P870P			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	870	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P870Q(2)		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)			ACATCGGGCCCAACGGCACGG	0.657000													10	7					4.68919e-08	5.4213e-08	0.361761	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319542	21319542	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:21319542G>T	ENST00000583088.1	+	3	1783	c.888G>T	c.(886-888)gtG>gtT	p.V296V	KCNJ12_ENST00000331718.5_Silent_p.V296V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.V296V(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)		TTGAGATCGTGGTCATCCTGG	0.617000										Prostate(3;0.18)			12	47					4.36969e-10	5.34784e-10	0.435327	1	0
PLCL2	23228	broad.mit.edu	37	3	17052138	17052138	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:17052138C>G	ENST00000418129.2	+	2	1387	c.922C>G	c.(922-924)Cat>Gat	p.H308D	PLCL2_ENST00000432376.1_Missense_Mutation_p.H308D|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.H308D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	434					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H308D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACCTCTGTCTCATTACTTTAT	0.393000													33	111					0	0	0.750413	0	0
OR12D3	81797	broad.mit.edu	37	6	29342926	29342926	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:29342926C>T	ENST00000396806.3	-	1	142	c.139G>A	c.(139-141)Gtt>Att	p.V47I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V47I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TCCAAAACAACCATCACCAAT	0.408000													31	11					0	0	0.740014	0	0
SCN1A	6323	broad.mit.edu	37	2	166848855	166848855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:166848855C>A	ENST00000423058.2	-	26	4947	c.4930G>T	c.(4930-4932)Ggc>Tgc	p.G1644C	SCN1A_ENST00000409050.1_Missense_Mutation_p.G1616C|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1633C|SCN1A_ENST00000303395.4_Missense_Mutation_p.G1644C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1644						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1633S(1)|p.G1644C(1)|p.G1644S(1)|p.G1633C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGATTCGGCCAATCCTAGCA	0.473000													36	49					2.05212e-20	2.99374e-20	0.812448	1	0
OR2T3	343173	broad.mit.edu	37	1	248636689	248636689	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:248636689C>A	ENST00000359594.2	+	1	63	c.38C>A	c.(37-39)gCa>gAa	p.A13E		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A13E(1)		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)			AATCAAACAGCAAGCACTGAT	0.463000													28	60					2.95478e-19	4.2057e-19	0.840704	1	0
CCDC91	55297	broad.mit.edu	37	12	28603339	28603339	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:28603339A>T	ENST00000545336.1	+	13	1331	c.912A>T	c.(910-912)gtA>gtT	p.V304V	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Silent_p.V304V|CCDC91_ENST00000539107.1_Silent_p.V268V|CCDC91_ENST00000306172.5_Silent_p.V274V|CCDC91_ENST00000381256.1_Silent_p.V268V			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	304	Homodimerization.				protein transport	Golgi apparatus|membrane		p.V304V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AGGCATTAGTATCCGCTGCAA	0.294000													51	80					0	0	0.870114	0	0
ENOX1	55068	broad.mit.edu	37	13	43839584	43839584	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:43839584C>A	ENST00000261488.6	-	14	2138	c.1561G>T	c.(1561-1563)Ggt>Tgt	p.G521C	ENOX1_ENST00000412891.1_Missense_Mutation_p.G521C	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	521					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.G521C(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)		TCCTTGGTACCTTTTAACTGC	0.358000													81	36					2.27507e-24	3.42138e-24	0.870114	1	0
WDR25	79446	broad.mit.edu	37	14	100847475	100847475	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:100847475G>A	ENST00000335290.6	+	2	440	c.214G>A	c.(214-216)Gac>Aac	p.D72N	WDR25_ENST00000554998.1_Missense_Mutation_p.D72N|WDR25_ENST00000554175.1_Missense_Mutation_p.72_72insN|WDR25_ENST00000402312.3_Missense_Mutation_p.D72N	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	72								p.D72N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCTGTGAAGACCCAGGGGG	0.597000													34	36					0	0	0.760397	0	0
VTA1	51534	broad.mit.edu	37	6	142491483	142491483	+	Splice_Site	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:142491483A>T	ENST00000367630.4	+	4	394	c.335_splice	c.e4-1	p.K112_splice	VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Splice_Site_p.K54_splice|VTA1_ENST00000367621.1_Splice_Site_p.K54_splice	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	112	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	p.?(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TCTCTTCCAGAAACATGATCA	0.303000													30	121					0	0	0.760397	0	0
PEX2	5828	broad.mit.edu	37	8	77896354	77896354	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:77896354C>T	ENST00000419564.2	-	4	525	c.61G>A	c.(61-63)Gat>Aat	p.D21N	PEX2_ENST00000357039.4_Missense_Mutation_p.D21N|PEX2_ENST00000522527.1_Missense_Mutation_p.D21N|PEX2_ENST00000520103.1_Missense_Mutation_p.D21N	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	21					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	p.D21N(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TCAAGTGCATCCAACTGGCTT	0.443000													46	83					0	0	0.870114	0	0
SH3D19	152503	broad.mit.edu	37	4	152069310	152069310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:152069310G>A	ENST00000409598.4	-	11	2173	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*	SH3D19_ENST00000424281.1_Nonsense_Mutation_p.Q300*|SH3D19_ENST00000427414.2_Nonsense_Mutation_p.Q300*|SH3D19_ENST00000409252.2_Nonsense_Mutation_p.Q336*|SH3D19_ENST00000304527.4_Nonsense_Mutation_p.Q336*|SH3D19_ENST00000514152.1_Nonsense_Mutation_p.Q336*|SH3D19_ENST00000455740.1_Nonsense_Mutation_p.Q336*			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	336	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	p.Q333*(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGAGGCTGTTGAGTTGGAATG	0.443000													12	220					0	0	0.387290	0	0
SSH3	54961	broad.mit.edu	37	11	67077349	67077349	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:67077349T>A	ENST00000308127.4	+	12	1497	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.L440Q	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	440	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L440Q(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCAGGCCCTGCGCCACGTG	0.662000													49	72					0	0	0.870114	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40666370	40666370	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:40666370G>A	ENST00000343619.4	+	21	2435	c.2312G>A	c.(2311-2313)gGa>gAa	p.G771E	ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G728E|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G417E|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G722E|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G771E|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G765E|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G772E	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	771					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.G765E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGCTTGGCGGGAGGTTTGGTG	0.577000													68	128					0	0	0.870114	0	0
LRRC73	221424	broad.mit.edu	37	6	43477341	43477341	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:43477341G>T	ENST00000372441.1	-	1	1083	c.183C>A	c.(181-183)ctC>ctA	p.L61L		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	61								p.L61L(1)									GGTTAAGGTTGAGCTGCGCCA	0.701000													5	14					0.014758	0.0149886	0.184627	1	0
DSC1	1823	broad.mit.edu	37	18	28711632	28711632	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:28711632C>T	ENST00000257197.3	-	15	2673	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	DSC1_ENST00000257198.5_Silent_p.K804K|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	804					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.K804K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCCCCACTCCCTTGACGGACT	0.512000													37	38					0	0	0.819951	0	0
SCN5A	6331	broad.mit.edu	37	3	38592217	38592217	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:38592217G>T	ENST00000413689.1	-	28	5839	c.5646C>A	c.(5644-5646)gcC>gcA	p.A1882A	SCN5A_ENST00000451551.2_Silent_p.A1828A|SCN5A_ENST00000333535.4_Silent_p.A1882A|SCN5A_ENST00000423572.2_Silent_p.A1881A|SCN5A_ENST00000425664.1_Silent_p.A1864A|SCN5A_ENST00000455624.2_Silent_p.A1849A|SCN5A_ENST00000450102.2_Silent_p.A1828A|SCN5A_ENST00000449557.2_Silent_p.A1828A|SCN5A_ENST00000443581.1_Silent_p.A1881A|SCN5A_ENST00000414099.2_Silent_p.A1864A	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1882					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.A1882A(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)	TGGATGGGTTGGCTGCCATGA	0.572000													42	47					2.95478e-19	4.2057e-19	0.840704	1	0
PCNXL4	64430	broad.mit.edu	37	14	60591648	60591648	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:60591648G>A	ENST00000406854.1	+	9	3313	c.2759G>A	c.(2758-2760)tGt>tAt	p.C920Y	PCNXL4_ENST00000535349.1_Missense_Mutation_p.C127Y|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C686Y|PCNXL4_ENST00000406949.1_Missense_Mutation_p.C686Y|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C920Y					pecanex-like 4 (Drosophila)									p.C920Y(1)|p.C686Y(1)									AGGACTAGCTGTATGCCCAGT	0.423000													23	94					0	0	0.639603	0	0
OTUD7A	161725	broad.mit.edu	37	15	31796019	31796019	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:31796019A>T	ENST00000382902.1	-	7	988	c.896T>A	c.(895-897)gTg>gAg	p.V299E	OTUD7A_ENST00000307050.4_Missense_Mutation_p.V292E			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	292	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.V292E(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)		AGAGTTGTCCACACTGTGAAA	0.522000													19	33					0	0	0.592651	0	0
CST11	140880	broad.mit.edu	37	20	23433431	23433431	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:23433431C>A	ENST00000377009.3	-	1	51	c.18G>T	c.(16-18)tgG>tgT	p.W6C	CST11_ENST00000377007.3_Missense_Mutation_p.W6C	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	6					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.W6F(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GTAGGGCCTGCCAGGGCTCAG	0.542000													13	22					7.03913e-09	8.31897e-09	0.411799	1	0
HOOK3	84376	broad.mit.edu	37	8	42863026	42863026	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:42863026G>T	ENST00000307602.4	+	18	1892	c.1692G>T	c.(1690-1692)aaG>aaT	p.K564N	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	564	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	p.K564N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AACTACAGAAGAAGAGAGCCA	0.373000			T	RET	papillary thyroid								10	74					1.76689e-08	2.06314e-08	0.335167	1	0
OR9A2	135924	broad.mit.edu	37	7	142723355	142723355	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:142723355G>A	ENST00000350513.2	-	1	927	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R289W(2)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTGTCATTCCGAAGAGTAAAG	0.448000													14	50					0	0	0.435327	0	0
HTR2B	3357	broad.mit.edu	37	2	231973592	231973592	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:231973592A>T	ENST00000258400.3	-	4	1597	c.1085T>A	c.(1084-1086)cTg>cAg	p.L362Q	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	362					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	p.L362Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAATATCTCCAGGAGCATTTG	0.383000													21	60					0	0	0.608945	0	0
BRDT	676	broad.mit.edu	37	1	92442839	92442839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:92442839G>T	ENST00000370389.2	+	6	1563	c.639G>T	c.(637-639)aaG>aaT	p.K213N	BRDT_ENST00000399546.2_Missense_Mutation_p.K286N|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000362005.3_Missense_Mutation_p.K286N|BRDT_ENST00000394530.3_Missense_Mutation_p.K240N|BRDT_ENST00000402388.1_Missense_Mutation_p.K286N	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.K286N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TGCTTGCAAAGAAACATTTTT	0.353000													43	44					1.15183e-24	1.73665e-24	0.847076	1	0
OR5D16	390144	broad.mit.edu	37	11	55607017	55607017	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:55607017C>A	ENST00000378396.1	+	1	790	c.790C>A	c.(790-792)Ccc>Acc	p.P264T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264T(2)		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)				CTACTGTGTACCCAACTCCAA	0.522000													21	58					4.96729e-08	5.72021e-08	0.575678	1	0
CDH6	1004	broad.mit.edu	37	5	31294250	31294250	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:31294250G>T	ENST00000265071.2	+	3	675	c.410G>T	c.(409-411)aGa>aTa	p.R137I	CDH6_ENST00000514738.1_Missense_Mutation_p.R82I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	137	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R137I(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGACAGGGAGACCCGTGGAG	0.473000													34	145					3.03874e-20	4.41107e-20	0.779181	1	0
NDST4	64579	broad.mit.edu	37	4	115997820	115997820	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:115997820T>C	ENST00000264363.2	-	2	1051	c.373A>G	c.(373-375)Aaa>Gaa	p.K125E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	125	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.K125E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TATTTCCCTTTGCCATTATCT	0.383000													10	57					0	0	0.335167	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635234	118635234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:118635234G>T	ENST00000360388.4	+	8	1247	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	349					transport	integral to membrane		p.G349V(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)		ATCCTCATTGGGCTGGTGCTC	0.488000													41	60					1.23103e-26	1.88029e-26	0.864702	1	0
GRIN3B	116444	broad.mit.edu	37	19	1004961	1004961	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:1004961G>A	ENST00000234389.3	+	3	1480	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	487					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	p.L487L(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TGGAGCGGCTGGCGGAGGACA	0.706000													16	7					0	0	0.592651	0	0
DSE	29940	broad.mit.edu	37	6	116720740	116720740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:116720740G>T	ENST00000331677.3	+	3	771	c.327G>T	c.(325-327)ttG>ttT	p.L109F	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.L128F|DSE_ENST00000452085.3_Missense_Mutation_p.L109F|DSE_ENST00000359564.2_Missense_Mutation_p.L109F			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	109					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.L109F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGGGTGCCTTGGCAATGTTCT	0.512000													17	46					1.67942e-08	1.96885e-08	0.539581	1	0
RAD54L2	23132	broad.mit.edu	37	3	51679135	51679135	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:51679135G>A	ENST00000409535.1	+	16	2671	c.2546G>A	c.(2545-2547)cGg>cAg	p.R849Q	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R543Q	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	849	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity	p.R849Q(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCAGTATGTCGGGTATACCGT	0.493000													12	16					0	0	0.387290	0	0
MINA	84864	broad.mit.edu	37	3	97686195	97686195	+	Silent	SNP	G	G	A	rs143209673	byFrequency	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:97686195G>A	ENST00000333396.6	-	2	825	c.243C>T	c.(241-243)ttC>ttT	p.F81F	MINA_ENST00000360258.4_Silent_p.F81F|MINA_ENST00000330299.2_Silent_p.F81F|MINA_ENST00000394198.2_Silent_p.F81F	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen	81					ribosome biogenesis	cytoplasm|nucleolus		p.F81F(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTGTTAGCTTGAACAGGGACC	0.473000													132	50					0	0	0.870114	0	0
PCDH10	57575	broad.mit.edu	37	4	134072045	134072045	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:134072045C>T	ENST00000264360.4	+	1	1576	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	250	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F250F(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)		TGCCCGCTTTCGACCAACCCG	0.657000													14	55					0	0	0.457914	0	0
OR51A4	401666	broad.mit.edu	37	11	4967877	4967877	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:4967877A>T	ENST00000380373.2	-	1	479	c.454T>A	c.(454-456)Ttt>Att	p.F152I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F152I(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGCTCTTAAAGGAGAATACT	0.423000													52	127					0	0	0.870114	0	0
CD180	4064	broad.mit.edu	37	5	66479106	66479106	+	Missense_Mutation	SNP	A	A	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:66479106A>C	ENST00000256447.4	-	3	1722	c.1565T>G	c.(1564-1566)aTg>aGg	p.M522R		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	522					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.M522R(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TACATGGCTCATTTTTCCCAA	0.478000													6	17					0	0	0.248553	0	0
KCNC4	3749	broad.mit.edu	37	1	110765692	110765692	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:110765692G>T	ENST00000369787.3	+	2	812	c.785G>T	c.(784-786)cGc>cTc	p.R262L	KCNC4_ENST00000413138.3_Missense_Mutation_p.R262L|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R262L	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	262					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R262L(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGATCCTCCGCGTAGGGAAC	0.562000													29	53					3.99451e-17	5.5904e-17	0.740014	1	0
OR4K17	390436	broad.mit.edu	37	14	20585717	20585717	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:20585717C>A	ENST00000315543.4	+	1	152	c.152C>A	c.(151-153)tCc>tAc	p.S51Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51Y(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGACCAGCTCCCAGGATGTA	0.438000													131	197					4.84861e-73	7.96752e-73	0.870114	1	0
TLN2	83660	broad.mit.edu	37	15	63073381	63073381	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:63073381G>T	ENST00000561311.1	+	43	5787	c.5557G>T	c.(5557-5559)Gac>Tac	p.D1853Y	TLN2_ENST00000306829.6_Missense_Mutation_p.D1853Y|TLN2_ENST00000472902.1_Missense_Mutation_p.D246Y			Q9Y4G6	TLN2_HUMAN	talin 2	1853					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D1853Y(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AACATTTGTCGACTATCAGAC	0.488000													10	25					0.000978159	0.00102549	0.387290	1	0
SLC14A2	8170	broad.mit.edu	37	18	43221223	43221223	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:43221223C>A	ENST00000255226.6	+	8	1857	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	SLC14A2_ENST00000586448.1_Missense_Mutation_p.S347R	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	347						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.S347R(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						GCCTCTGGAGCTACAACTGCG	0.552000													11	26					6.40141e-05	6.87124e-05	0.387290	1	0
SAV1	60485	broad.mit.edu	37	14	51111641	51111641	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:51111641C>G	ENST00000324679.4	-	3	990	c.627G>C	c.(625-627)tgG>tgC	p.W209C		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	209	WW 1.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	p.W209C(1)		breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTCTCATTGTCCAGTCCACAG	0.458000													13	77					0	0	0.457914	0	0
MIR510	574515	broad.mit.edu	37	X	146353884	146353884	+	RNA	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:146353884A>T	ENST00000384909.1	-	0	42					NR_030237.1																						TTTCAATCACACCTAATTACA	0.398000													16	21					0	0	0.500413	0	0
FGF1	2246	broad.mit.edu	37	5	141993563	141993563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:141993563C>A	ENST00000359370.6	-	2	209	c.130G>T	c.(130-132)Ggc>Tgc	p.G44C	AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Missense_Mutation_p.G44C|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000360966.5_Missense_Mutation_p.G44C|FGF1_ENST00000419524.2_Missense_Mutation_p.G44C|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000407758.1_Missense_Mutation_p.G44C|FGF1_ENST00000378046.1_Missense_Mutation_p.G44C	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	44					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding	p.G44C(2)		large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	TCCACTGTGCCATCCGGAAGG	0.547000													27	22					1.80694e-10	2.21606e-10	0.740014	1	0
SEC22B	9554	broad.mit.edu	37	1	145116003	145116003	+	RNA	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:145116003A>G	ENST00000453618.1	+	0	1089							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TTCTGCCTCTAAAGACCTTGC	0.428000													6	48					0	0	0.217242	0	0
DCHS2	54798	broad.mit.edu	37	4	155157307	155157307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:155157307C>A	ENST00000357232.3	-	25	7131	c.7132G>T	c.(7132-7134)Gat>Tat	p.D2378Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2378	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D2378Y(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)		GCATGAATATCCCCTGTCAAA	0.413000													787	65					0	0	0.870114	1	0
NRXN1	9378	broad.mit.edu	37	2	50280681	50280681	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:50280681C>A	ENST00000404971.1	-	22	5315	c.3976G>T	c.(3976-3978)Ggg>Tgg	p.G1326W	NRXN1_ENST00000406859.3_Missense_Mutation_p.G1256W|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1256W|NRXN1_ENST00000401710.1_Missense_Mutation_p.G274W|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1278W|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1286W|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1278W|NRXN1_ENST00000342183.5_Missense_Mutation_p.G221W	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1256	Poly-Thr.				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.G1326W(1)|p.G221W(1)|p.G1327W(1)|p.G1256W(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)			TGCTCTTTCCCGCCAATTATT	0.448000													19	61					1.10513e-12	1.43349e-12	0.624587	1	0
MMEL1	79258	broad.mit.edu	37	1	2538455	2538455	+	Missense_Mutation	SNP	C	C	T	rs148947796		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:2538455C>T	ENST00000288709.6	-	7	802	c.562G>A	c.(562-564)Gga>Aga	p.G188R	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.G197R	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	197					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.G188R(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCCAGCCTCCCACCACCTCC	0.637000													30	35					0	0	0.779181	0	0
CLINT1	9685	broad.mit.edu	37	5	157218842	157218842	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:157218842C>A	ENST00000523094.1	-	10	1400	c.1195G>T	c.(1195-1197)Gcc>Tcc	p.A399S	CLINT1_ENST00000530742.1_Missense_Mutation_p.A399S|CLINT1_ENST00000296951.5_Missense_Mutation_p.A399S|CLINT1_ENST00000411809.2_Missense_Mutation_p.A417S|CLINT1_ENST00000523908.1_Missense_Mutation_p.A417S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	417					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	p.A399S(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)			GAATTTGAGGCAGCAGGAGGT	0.507000													14	31					1.41608e-15	1.92652e-15	0.435327	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26156692	26156692	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:26156692G>C	ENST00000304218.3	+	1	134	c.74G>C	c.(73-75)cGc>cCc	p.R25P		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	25					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.R25P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGAAGGCCCGCAAGTCTGCA	0.647000													55	20					0	0	0.870114	0	0
KIF26B	55083	broad.mit.edu	37	1	245848894	245848894	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:245848894C>A	ENST00000366518.4	+	9	1570	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	KIF26B_ENST00000407071.2_Missense_Mutation_p.P870H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	870	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.P870Q(2)		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)			TACATCGGGCCCAACGGCACG	0.657000													10	7					4.68919e-08	5.4213e-08	0.361761	1	0
ARAP2	116984	broad.mit.edu	37	4	36150074	36150074	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:36150074C>A	ENST00000303965.4	-	17	3442	c.2953G>T	c.(2953-2955)Gct>Tct	p.A985S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	985	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.A985S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GATGTTTCAGCTCCAAATAAA	0.358000													10	28					3.07112e-06	3.38982e-06	0.387290	1	0
TRHDE	29953	broad.mit.edu	37	12	73046138	73046138	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:73046138A>T	ENST00000261180.4	+	16	2673	c.2577A>T	c.(2575-2577)acA>acT	p.T859T		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	859					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.T859T(1)		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						TATACTGTACAGGAGTGTCAC	0.358000													38	28					0	0	0.840704	0	0
OR5T3	390154	broad.mit.edu	37	11	56019896	56019896	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:56019896G>T	ENST00000303059.3	+	1	221	c.221G>T	c.(220-222)gGg>gTg	p.G74V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G74V(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGCAATTTAGGGCTGGTTGTG	0.368000													23	66					1.9806e-07	2.25418e-07	0.624587	1	0
KDM5A	5927	broad.mit.edu	37	12	427541	427541	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:427541C>T	ENST00000399788.2	-	19	2990	c.2628G>A	c.(2626-2628)atG>atA	p.M876I	KDM5A_ENST00000382815.4_Missense_Mutation_p.M876I	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	876					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M876I(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TATCTATCAACATCTGGAGTT	0.458000			T	NUP98	AML								33	74					0	0	0.769981	0	0
CAD	790	broad.mit.edu	37	2	27462633	27462633	+	Silent	SNP	A	A	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:27462633A>C	ENST00000264705.4	+	34	5625	c.5463A>C	c.(5461-5463)ccA>ccC	p.P1821P	CAD_ENST00000403525.1_Silent_p.P1758P	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1821	Linker.				'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.P1821P(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)	CTCAGCTCCCACCCTCAGCCC	0.607000													7	67					0	0	0.575678	0	0
CARD11	84433	broad.mit.edu	37	7	2972221	2972221	+	Splice_Site	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:2972221C>T	ENST00000396946.4	-	11	1922		c.e11-1			NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11						positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCTCTGCAGCTAAAAGGGAG	0.483000			Mis		DLBCL								8	15					0	0	0.307466	0	0
LRRC32	2615	broad.mit.edu	37	11	76372429	76372429	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:76372429C>A	ENST00000407242.2	-	3	450	c.208G>T	c.(208-210)Ggc>Tgc	p.G70C	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.G70C|LRRC32_ENST00000404995.1_Missense_Mutation_p.G70C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	70						integral to plasma membrane		p.G70C(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGTAGAAGCCCAGGGGTGAG	0.622000													14	48					1.3612e-06	1.52549e-06	0.479597	1	0
OR2F1	26211	broad.mit.edu	37	7	143657299	143657299	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:143657299C>A	ENST00000392899.1	+	1	273	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGTGTAGTCCCTCAGCTGCTG	0.502000													64	187					1.77791e-30	2.73705e-30	0.870114	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83390111	83390111	+	Splice_Site	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:83390111C>A	ENST00000262752.2	-	7	616		c.e7+1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACAGCTTTACTTTTCTGGCT	0.353000													5	12					5.9392e-07	6.7074e-07	0.217242	1	0
HOXA5	3202	broad.mit.edu	37	7	27182769	27182769	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:27182769G>T	ENST00000222726.3	-	1	518	c.458C>A	c.(457-459)gCc>gAc	p.A153D	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	153					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A153D(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GCTGGCAGGGGCGTCCTCCTC	0.701000													39	114					6.21074e-16	8.50886e-16	0.859065	1	0
MYH7B	57644	broad.mit.edu	37	20	33582124	33582124	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:33582124G>A	ENST00000262873.7	+	25	2838	c.2746G>A	c.(2746-2748)Gag>Aag	p.E916K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	874						membrane|myosin filament	actin binding|ATP binding|motor activity	p.E916K(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGCTGCGGCCGAGGCCAAGCG	0.677000													16	54					0	0	0.479597	0	0
OR10J1	26476	broad.mit.edu	37	1	159409741	159409741	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:159409741C>T	ENST00000423932.3	+	1	230	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	65					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.H65Y(1)|p.H221Y(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AATGGATCTTCATCTTCACAC	0.458000													28	115					0	0	0.693898	0	0
RIMS2	9699	broad.mit.edu	37	8	105105868	105105868	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:105105868T>C	ENST00000436393.2	+	21	3132	c.2891T>C	c.(2890-2892)aTc>aCc	p.I964T	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	410					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			AACAAGAAAATCAGGTAAGGG	0.373000										HNSCC(12;0.0054)			14	36					0	0	0.479597	0	0
FBXL7	23194	broad.mit.edu	37	5	15937076	15937076	+	Silent	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:15937076C>G	ENST00000504595.1	+	4	1738	c.1257C>G	c.(1255-1257)ggC>ggG	p.G419G	FBXL7_ENST00000329673.7_Silent_p.G407G|FBXL7_ENST00000510662.1_Silent_p.G372G	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	419					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.G419G(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						CCGACACGGGCCTGGAGTGCC	0.602000													6	17					0	0	0.217242	0	0
DENND2A	27147	broad.mit.edu	37	7	140246656	140246656	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:140246656G>A	ENST00000275884.6	-	12	2538	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	DENND2A_ENST00000496613.1_Silent_p.F707F|DENND2A_ENST00000537639.1_Silent_p.F707F|DENND2A_ENST00000492720.1_Silent_p.F707F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	707	DENN.							p.F707F(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCAGGGCTGGGAAAGGGGCTT	0.537000													15	12					0	0	0.479597	0	0
NTNG1	22854	broad.mit.edu	37	1	107691420	107691420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:107691420G>T	ENST00000370067.1	+	2	832	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	NTNG1_ENST00000370068.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370072.3_Missense_Mutation_p.D69Y|NTNG1_ENST00000370073.2_Missense_Mutation_p.D69Y|NTNG1_ENST00000370074.4_Missense_Mutation_p.D69Y|NTNG1_ENST00000542803.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370061.3_Missense_Mutation_p.D69Y|NTNG1_ENST00000370065.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370070.2_Missense_Mutation_p.D69Y|NTNG1_ENST00000370066.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370071.2_Missense_Mutation_p.D69Y			Q9Y2I2	NTNG1_HUMAN	netrin G1	69	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.D69Y(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGATCCTCCGGATATTACCTG	0.433000													25	67					1.42536e-11	1.78934e-11	0.681144	1	0
LRP1B	53353	broad.mit.edu	37	2	141093288	141093288	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:141093288C>T	ENST00000389484.3	-	78	12983	c.12012G>A	c.(12010-12012)ctG>ctA	p.L4004L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4004					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4004L(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)		TAGAGTACCTCAGACTGGTCC	0.458000										TSP Lung(27;0.18)			21	104					0	0	0.624587	0	0
CSMD3	114788	broad.mit.edu	37	8	113504807	113504807	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:113504807C>A	ENST00000297405.5	-	31	5433	c.5189G>T	c.(5188-5190)gGt>gTt	p.G1730V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1690V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1626V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1730V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1730	Sushi 9.					integral to membrane|plasma membrane		p.G1730V(1)|p.G1690V(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						AAGAACATAACCAGCATCACA	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	105					2.21704e-12	2.85047e-12	0.639603	1	0
ADH1A	124	broad.mit.edu	37	4	100205962	100205962	+	Splice_Site	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:100205962T>A	ENST00000209668.2	-	4	373		c.e4-2		RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide						ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CTTTATCACCTGGAGAGGGAT	0.363000													22	19					0	0	0.608945	0	0
PFKFB4	5210	broad.mit.edu	37	3	48563078	48563078	+	Missense_Mutation	SNP	C	C	T	rs149503701	by1000genomes	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:48563078C>T	ENST00000232375.3	-	10	1124	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	PFKFB4_ENST00000416568.1_Missense_Mutation_p.E331K|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000536104.1_Missense_Mutation_p.E327K|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.E304K	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	338	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.E338K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TGAATTTCCTCGTAGGTCATT	0.557000													6	13					0	0	0.248553	0	0
CT47B1	643311	broad.mit.edu	37	X	120009188	120009188	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:120009188G>T	ENST00000371311.3	-	1	591	c.337C>A	c.(337-339)Cgt>Agt	p.R113S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	113								p.R113S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGGTACCGACGGGTGGCCACC	0.647000													11	9					3.07112e-06	3.38982e-06	0.387290	1	0
TRIO	7204	broad.mit.edu	37	5	14358319	14358319	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:14358319G>C	ENST00000344204.4	+	12	2103	c.2079G>C	c.(2077-2079)gaG>gaC	p.E693D	TRIO_ENST00000537187.1_Missense_Mutation_p.E693D|TRIO_ENST00000509967.2_Missense_Mutation_p.E644D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	693					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.E693D(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGCAGAAGGAGCTGCTGGACG	0.682000													8	27					0	0	0.335167	0	0
EBF2	64641	broad.mit.edu	37	8	25747273	25747273	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:25747273G>C	ENST00000520164.1	-	8	1283	c.746C>G	c.(745-747)tCg>tGg	p.S249W	EBF2_ENST00000408929.3_Missense_Mutation_p.S101W	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	249					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.S249W(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCTACCTTCCGATGGATCGAG	0.473000													44	19					0	0	0.870114	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911421	74911421	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:74911421G>T	ENST00000289575.5	+	11	2147	c.1752G>T	c.(1750-1752)atG>atT	p.M584I	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.M468I|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.M357I|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.M329I|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.M440I|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.M357I|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.M562I	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	584					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.M584I(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCTCCTTCATGCTCATCCTAA	0.602000													28	110					2.4375e-19	3.49494e-19	0.717897	1	0
CACNA2D1	781	broad.mit.edu	37	7	81641520	81641520	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:81641520C>T	ENST00000356860.3	-	15	1650	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G438R|CACNA2D1_ENST00000464354.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	438						voltage-gated calcium channel complex	metal ion binding	p.G438R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTTTGTCTCCTGCTAAAACC	0.373000													8	48					0	0	0.307466	0	0
IGHE	3497	broad.mit.edu	37	14	106066370	106066370	+	RNA	SNP	T	T	C	rs1134593		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:106066370T>C	ENST00000412518.1	-	0	6				IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA																							CACAGCTGGATGGAGCCCTGG	0.602000													5	119					0	0	0.361761	0	0
LAMA4	3910	broad.mit.edu	37	6	112499347	112499347	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:112499347G>A	ENST00000230538.7	-	10	1562	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	LAMA4_ENST00000389463.4_Missense_Mutation_p.H382Y|LAMA4_ENST00000424408.2_Missense_Mutation_p.H382Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.H382Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	389	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.H382Y(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)		CTCATATCATGGGCTTGCTCT	0.383000													14	63					0	0	0.457914	0	0
PTBP2	58155	broad.mit.edu	37	1	97236293	97236293	+	Silent	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:97236293A>G	ENST00000236228.6	+	5	400	c.318A>G	c.(316-318)gcA>gcG	p.A106A	PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Silent_p.A106A|PTBP2_ENST00000394184.3_Silent_p.A117A|PTBP2_ENST00000426398.2_Silent_p.A106A|PTBP2_ENST00000541987.1_Silent_p.A75A|PTBP2_ENST00000370198.1_Silent_p.A106A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	106	RRM 1.						nucleotide binding	p.A106A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CCGAGGAAGCAGCTATTACTA	0.308000													56	36					0	0	0.870114	0	0
CAPN6	827	broad.mit.edu	37	X	110490676	110490676	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:110490676G>T	ENST00000324068.1	-	12	1830	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	CAPN6_ENST00000541758.1_Missense_Mutation_p.Q300K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	555	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.Q555K(1)|p.Q555*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTATTCTTCTGGACAGGAGAA	0.408000													87	12					1.07134e-49	1.74092e-49	0.870114	1	0
TTC21B	79809	broad.mit.edu	37	2	166785655	166785655	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:166785655C>G	ENST00000243344.7	-	11	1513	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	459						cilium axoneme|cytoplasm|cytoskeleton	binding	p.C459S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTGCATTGGACAGAAGCTCAG	0.328000													4	37					0	0	0.184627	0	0
VCAN	1462	broad.mit.edu	37	5	82837721	82837721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:82837721G>T	ENST00000265077.3	+	8	9464	c.8899G>T	c.(8899-8901)Gaa>Taa	p.E2967*	VCAN_ENST00000343200.5_Nonsense_Mutation_p.E1980*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2967	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E2967*(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)		CGATGAAATTGAATTAGAAGG	0.468000													53	27					4.78724e-31	7.40883e-31	0.870114	1	0
RUNX1T1	862	broad.mit.edu	37	8	93003909	93003909	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:93003909G>A	ENST00000523629.1	-	7	1403	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H280Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H290Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H280Y|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H317Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H290Y|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H280Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H328Y	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	317					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H317Y(1)|p.H280Y(1)|p.H328Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGCTGGGGTGTCGATAGGAG	0.552000													50	90					0	0	0.870114	0	0
SYNE2	23224	broad.mit.edu	37	14	64488150	64488150	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:64488150G>A	ENST00000358025.3	+	36	5499	c.5269G>A	c.(5269-5271)Gcc>Acc	p.A1757T	SYNE2_ENST00000554584.1_Missense_Mutation_p.A1757T|SYNE2_ENST00000344113.4_Missense_Mutation_p.A1757T|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1757					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.A1757T(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)		TCTCGACCAAGCCAAGACCCA	0.493000													3	72					0	0	0.115264	0	0
DGKI	9162	broad.mit.edu	37	7	137255965	137255965	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:137255965C>T	ENST00000453654.1	-	19	1542	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	DGKI_ENST00000288490.5_Missense_Mutation_p.D635N|DGKI_ENST00000446122.1_Missense_Mutation_p.D635N|DGKI_ENST00000424189.2_Missense_Mutation_p.D635N			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	635					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.D635N(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						TAACCATCATCATGACGCTGA	0.368000													10	29					0	0	0.411799	0	0
OR52E4	390081	broad.mit.edu	37	11	5906247	5906247	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:5906247G>A	ENST00000316987.2	+	1	747	c.725G>A	c.(724-726)tGt>tAt	p.C242Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C242Y(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)		TTCAATACCTGTGGTTCTCAT	0.403000													33	70					0	0	0.788014	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184626183	184626183	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:184626183G>T	ENST00000334690.6	+	27	3217	c.3015G>T	c.(3013-3015)ccG>ccT	p.P1005P	TRAPPC11_ENST00000512476.1_Silent_p.P611P|TRAPPC11_ENST00000357207.4_Silent_p.P1005P	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	1005								p.P1005P(1)									TCACTCTGCCGCACGTGATTG	0.383000													64	38					3.13765e-25	4.74297e-25	0.870114	1	0
VPS13B	157680	broad.mit.edu	37	8	100865784	100865784	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:100865784C>T	ENST00000358544.2	+	56	10353	c.10242C>T	c.(10240-10242)ctC>ctT	p.L3414L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3389L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3414					protein transport			p.L3414L(1)|p.L3389L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTGAGACTCACACTGGACA	0.493000													33	42					0	0	0.788014	0	0
PRSS1	5644	broad.mit.edu	37	7	142459794	142459794	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:142459794T>A	ENST00000486171.1	+	4	429	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	PRSS1_ENST00000311737.7_Missense_Mutation_p.S124T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	124	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.S124T(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)			CGCCCGCGTGTCCACCATCTC	0.577000													48	45					0	0	0.870114	0	0
NFKB1	4790	broad.mit.edu	37	4	103504055	103504055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:103504055G>T	ENST00000226574.4	+	10	1335	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	NFKB1_ENST00000394820.4_Nonsense_Mutation_p.E289*|NFKB1_ENST00000505458.1_Nonsense_Mutation_p.E289*|NFKB1_ENST00000600343.1_Nonsense_Mutation_p.E109*	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	289	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E290*(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TGAAGAGGAAGAAAATGGTGG	0.308000													14	39					6.72482e-11	8.33479e-11	0.479597	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33588844	33588844	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:33588844G>A	ENST00000504830.1	-	18	3060	c.2725C>T	c.(2725-2727)Ctg>Ttg	p.L909L	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.L824L	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	909	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L909L(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						TGGATGCACAGCACGGTTCGC	0.607000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	60					0	0	0.788014	0	0
CASZ1	54897	broad.mit.edu	37	1	10714191	10714191	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:10714191G>A	ENST00000377022.3	-	11	2240	c.1923C>T	c.(1921-1923)gcC>gcT	p.A641A	CASZ1_ENST00000344008.5_Silent_p.A641A|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A641A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCCGTCCTTGGCGTAGGCAT	0.552000													43	24					0	0	0.827153	0	0
PKHD1	5314	broad.mit.edu	37	6	51890939	51890939	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:51890939C>G	ENST00000371117.3	-	32	3944	c.3669G>C	c.(3667-3669)agG>agC	p.R1223S	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1223S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1223	IPT/TIG 7.				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.R1223S(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)					AAGCTGGGTCCCTGCTGAAGC	0.473000													48	12					0	0	0.870114	0	0
GALC	2581	broad.mit.edu	37	14	88406293	88406293	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:88406293C>A	ENST00000261304.2	-	16	1973	c.1867G>T	c.(1867-1869)Gaa>Taa	p.E623*	GALC_ENST00000393568.4_Nonsense_Mutation_p.E600*|GALC_ENST00000544807.2_Nonsense_Mutation_p.E567*|GALC_ENST00000393569.2_Nonsense_Mutation_p.E597*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	623					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	p.E623*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGTAACTTCAACACGTCCT	0.318000													34	192					9.45814e-24	1.41148e-23	0.804634	1	0
NT5C3A	51251	broad.mit.edu	37	7	33055308	33055308	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:33055308G>A	ENST00000396152.2	-	9	1068	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Silent_p.L244L|NT5C3A_ENST00000381626.2_Silent_p.L244L|NT5C3A_ENST00000405342.1_Silent_p.L256L|NT5C3A_ENST00000242210.7_Silent_p.L295L	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA									p.L256L(2)|p.L295L(2)									CCAATTTTCAGAATGTGCTCA	0.328000													35	91					0	0	0.796494	0	0
SGIP1	84251	broad.mit.edu	37	1	67185020	67185020	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:67185020C>A	ENST00000371037.4	+	19	1751	c.1674C>A	c.(1672-1674)gaC>gaA	p.D558E	SGIP1_ENST00000371035.3_Missense_Mutation_p.D348E|SGIP1_ENST00000371036.3_Missense_Mutation_p.D360E|SGIP1_ENST00000371039.1_Missense_Mutation_p.D361E|SGIP1_ENST00000237247.6_Missense_Mutation_p.D589E|SGIP1_ENST00000435165.2_Missense_Mutation_p.D63E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	558					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.D361E(1)|p.D558E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAGCTCAGGACACTCTCCCTG	0.428000													5	8					0.014758	0.0149886	0.184627	1	0
SYNE3	161176	broad.mit.edu	37	14	95932316	95932316	+	Silent	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:95932316G>C	ENST00000334258.5	-	3	593	c.579C>G	c.(577-579)gcC>gcG	p.A193A	SYNE3_ENST00000557275.1_Silent_p.A193A|SYNE3_ENST00000553340.1_Silent_p.A193A	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.A193A(3)		breast(1)|endometrium(2)|lung(25)	28						TTCTCTTCTGGGCATCTTCGT	0.607000													12	53					0	0	0.435327	0	0
MIR485	574436	broad.mit.edu	37	14	101521810	101521810	+	RNA	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:101521810G>T	ENST00000385292.2	+	0	73					NR_030160.1																						AGTCATACACGGCTCTCCTCT	0.517000													25	39					1.1804e-14	1.58379e-14	0.667858	1	0
TUBG2	27175	broad.mit.edu	37	17	40818413	40818413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:40818413C>T	ENST00000251412.7	+	10	1268	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	357					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.Q357*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CGCCAGCATCCAGGTGGCCCT	0.647000													12	88					0	0	0.457914	0	0
TRPA1	8989	broad.mit.edu	37	8	72946498	72946498	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:72946498G>T	ENST00000262209.4	-	22	2877	c.2670C>A	c.(2668-2670)atC>atA	p.I890I	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_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	890						integral to plasma membrane		p.I890I(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)	AATTCAGGAGGATGTAAAAGC	0.299000													13	42					1.5739e-10	1.93838e-10	0.500413	1	0
CXorf22	170063	broad.mit.edu	37	X	35988934	35988934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:35988934G>T	ENST00000297866.5	+	11	1930	c.1864G>T	c.(1864-1866)Gca>Tca	p.A622S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	622								p.A622S(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCATGATTTTGCATATACTAC	0.279000													9	5					0.000442599	0.000466524	0.335167	1	0
SEC31B	25956	broad.mit.edu	37	10	102256930	102256930	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:102256930C>A	ENST00000370345.3	-	17	2195	c.2098G>T	c.(2098-2100)Gca>Tca	p.A700S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	700					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.W699_A700>CS(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGGCATTTTGCCCAGCACTCC	0.607000													17	24					5.03518e-11	6.28056e-11	0.557998	1	0
CHRNA7	1139	broad.mit.edu	37	15	32460267	32460267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:32460267G>T	ENST00000306901.3	+	10	1214	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S	CHRNA7_ENST00000454250.3_Missense_Mutation_p.A402S|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A192S	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	373					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	p.A283S(1)|p.A373S(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GGAGATGAGCGCCGTGGCGCC	0.706000													14	39					2.35188e-11	2.94615e-11	0.539581	1	0
CPA4	51200	broad.mit.edu	37	7	129962387	129962387	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:129962387C>T	ENST00000222482.4	+	11	1165	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	CPA4_ENST00000493259.1_Silent_p.F275F|CPA4_ENST00000445470.2_Silent_p.F346F	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	379					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.F379F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AATTTGCATTCACATTTGAGT	0.527000													18	80					0	0	0.539581	0	0
MPP6	51678	broad.mit.edu	37	7	24705690	24705690	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:24705690C>T	ENST00000396475.2	+	9	1233	c.934C>T	c.(934-936)Ctc>Ttc	p.L312F	MPP6_ENST00000222644.4_Missense_Mutation_p.L312F|MPP6_ENST00000409761.1_Missense_Mutation_p.L200F	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	312					protein complex assembly		protein binding	p.L312F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GATGATGTATCTCACAACCAG	0.313000													38	187					0	0	0.834066	0	0
NAV3	89795	broad.mit.edu	37	12	78574754	78574754	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:78574754C>A	ENST00000397909.2	+	30	5794	c.5621C>A	c.(5620-5622)tCc>tAc	p.S1874Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S1852Y|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.S1852Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S1675Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1874	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S1852Y(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						AGCAGCACCTCCTCTTCATCT	0.453000										HNSCC(70;0.22)			52	16					2.84144e-21	4.19758e-21	0.870114	1	0
HSPH1	10808	broad.mit.edu	37	13	31725161	31725161	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:31725161C>T	ENST00000320027.5	-	7	1175	c.831G>A	c.(829-831)atG>atA	p.M277I	HSPH1_ENST00000380406.5_Missense_Mutation_p.M236I|HSPH1_ENST00000445273.2_Missense_Mutation_p.M279I|HSPH1_ENST00000429785.2_Missense_Mutation_p.M96I|HSPH1_ENST00000380405.4_Missense_Mutation_p.M277I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	277					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	p.M277I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGTTAGAGCTCATTAGCTTTT	0.363000													26	33					0	0	0.693898	0	0
GALNT18	374378	broad.mit.edu	37	11	11314662	11314662	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:11314662G>T	ENST00000227756.4	-	10	2002	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18									p.L531M(1)									ACGTCCACCAGGCATCGGTTG	0.587000													8	26					5.18039e-06	5.69648e-06	0.278610	1	0
PRKCB	5579	broad.mit.edu	37	16	24202429	24202429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:24202429G>T	ENST00000303531.7	+	16	1893	c.1741G>T	c.(1741-1743)Ggc>Tgc	p.G581C	PRKCB_ENST00000321728.7_Missense_Mutation_p.G581C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	581	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.G581C(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAAACACCCAGGCAAACGTCT	0.413000													28	20					1.08052e-11	1.35936e-11	0.796494	1	0
OR10H5	284433	broad.mit.edu	37	19	15905665	15905665	+	Silent	SNP	G	G	T	rs138375774		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:15905665G>T	ENST00000308940.8	+	1	905	c.807G>T	c.(805-807)ccG>ccT	p.P269P		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P269P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCCAGTCTCCGGAAGGAGACA	0.567000													26	15					4.87955e-14	6.45823e-14	0.693898	1	0
MYH7	4625	broad.mit.edu	37	14	23885271	23885271	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:23885271G>A	ENST00000355349.3	-	34	5057	c.4895C>T	c.(4894-4896)gCc>gTc	p.A1632V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1632					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1632V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCGGTTGGCGTGGCTGAG	0.612000													42	56					0	0	0.853193	0	0
NEK1	4750	broad.mit.edu	37	4	170347354	170347354	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:170347354C>T	ENST00000439128.2	-	28	3473	c.2833G>A	c.(2833-2835)Gaa>Aaa	p.E945K	NEK1_ENST00000510533.1_Missense_Mutation_p.E901K|NEK1_ENST00000512193.1_Missense_Mutation_p.E876K|NEK1_ENST00000511633.1_Missense_Mutation_p.E929K|NEK1_ENST00000507142.1_Missense_Mutation_p.E973K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	945					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E973K(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGAAACTTCATTTTCCTGA	0.383000													5	17					0	0	0.217242	0	0
SERPINA3	12	broad.mit.edu	37	14	95081191	95081191	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:95081191G>A	ENST00000553947.1	+	5	1376	c.488G>A	c.(487-489)gGa>gAa	p.G163E	SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.G138E|SERPINA3_ENST00000467132.1_Missense_Mutation_p.G138E|SERPINA3_ENST00000393080.4_Missense_Mutation_p.G138E			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	138					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G138E(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGAGTATGGGAAATGCCATG	0.537000													11	39					0	0	0.387290	0	0
MYH1	4619	broad.mit.edu	37	17	10398275	10398275	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:10398275C>T	ENST00000226207.5	-	37	5533	c.5439G>A	c.(5437-5439)aaG>aaA	p.K1813K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1813						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.K1813K(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						GGATCTGCTTCTTCCCACCCT	0.532000													24	60					0	0	0.681144	0	0
LYZL1	84569	broad.mit.edu	37	10	29599112	29599112	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:29599112C>A	ENST00000375500.3	+	4	567	c.510C>A	c.(508-510)aaC>aaA	p.N170K		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	124					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.N170K(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AAGGAATGAACTATTGGTAAG	0.413000													27	27					6.32553e-13	8.2415e-13	0.681144	1	0
FGD5	152273	broad.mit.edu	37	3	14862106	14862106	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:14862106C>A	ENST00000285046.5	+	1	1638	c.1528C>A	c.(1528-1530)Cct>Act	p.P510T	FGD5_ENST00000543601.1_Missense_Mutation_p.P269T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	510					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P510T(1)|p.P269T(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTCGTCAGCCCCTGGCATTGG	0.642000													6	27					2.0095e-06	2.2349e-06	0.248553	1	0
MYH1	4619	broad.mit.edu	37	17	10409210	10409210	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:10409210C>A	ENST00000226207.5	-	19	2187	c.2093G>T	c.(2092-2094)aGg>aTg	p.R698M	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	698	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R698M(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						ACCGTTACACCTCAGCTGATG	0.488000													31	9					3.1745e-13	4.17321e-13	0.729181	1	0
SPARCL1	8404	broad.mit.edu	37	4	88416260	88416260	+	Translation_Start_Site	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:88416260G>C	ENST00000503414.1	-	0	241				SPARCL1_ENST00000418378.1_Missense_Mutation_p.S25C|SPARCL1_ENST00000282470.6_Missense_Mutation_p.S25C			Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)						signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.S25C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGAATGATCAGATAATAATCT	0.353000													55	65					0	0	0.870114	0	0
GPC2	221914	broad.mit.edu	37	7	99768065	99768065	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:99768065C>T	ENST00000292377.2	-	10	1695	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	510						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.D510N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCAGTCATCTGCATACTGC	0.632000													13	13					0	0	0.479597	0	0
AKAP6	9472	broad.mit.edu	37	14	33015819	33015819	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:33015819C>T	ENST00000280979.4	+	4	2130	c.1960C>T	c.(1960-1962)Ctg>Ttg	p.L654L	AKAP6_ENST00000557272.1_Silent_p.L654L|AKAP6_ENST00000557354.1_Silent_p.L654L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	654					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.L654L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AACAAAGCTTCTGCCTCAGAA	0.433000													17	47					0	0	0.539581	0	0
RAB37	326624	broad.mit.edu	37	17	72741181	72741181	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:72741181A>G	ENST00000340415.3	+	8	1512	c.503A>G	c.(502-504)aAg>aGg	p.K168R	RAB37_ENST00000402449.4_Missense_Mutation_p.K168R|RAB37_ENST00000528438.1_Missense_Mutation_p.K148R|RAB37_ENST00000392612.3_Missense_Mutation_p.K138R|RAB37_ENST00000392613.5_Missense_Mutation_p.K175R|RAB37_ENST00000392614.4_Missense_Mutation_p.K180R|RAB37_ENST00000392610.1_Missense_Mutation_p.K175R|RAB37_ENST00000392615.5_Missense_Mutation_p.K143R	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	p.K168R(2)|p.K175R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ACCAGCGCCAAGACTGGCATG	0.637000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	49					0	0	0.307466	0	0
POFUT1	23509	broad.mit.edu	37	20	30804817	30804817	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:30804817G>A	ENST00000375730.3	+	5	598	c.549G>A	c.(547-549)gaG>gaA	p.E183E	POFUT1_ENST00000375749.3_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000539210.1_Intron	NM_172236.1	NP_758436.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	0					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	p.E183E(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTAGGCGTGAGAATCACTCCT	0.458000													14	49					0	0	0.500413	0	0
MICAL3	57553	broad.mit.edu	37	22	18363985	18363985	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr22:18363985G>T	ENST00000429452.1	-	17	2678	c.2326C>A	c.(2326-2328)Cat>Aat	p.H776N	MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.H776N|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000441493.2_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1465	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.H776N(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGCCGCCATGTGCCCGACAG	0.552000													18	31					8.34094e-07	9.38355e-07	0.575678	1	0
KANSL1L	151050	broad.mit.edu	37	2	210887816	210887816	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:210887816C>T	ENST00000281772.9	-	15	3084	c.2821G>A	c.(2821-2823)Gaa>Aaa	p.E941K	KANSL1L_ENST00000418791.1_Missense_Mutation_p.E899K	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	941								p.E941K(1)									CTTGACCTTTCAACCTGATCC	0.448000													7	51					0	0	0.248553	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629772	9629772	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:9629772G>T	ENST00000382492.2	-	1	691	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	125					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.L125M(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						CATGGGACCAGCTTGGATATC	0.473000													17	27					3.99206e-14	5.30762e-14	0.557998	1	0
KEAP1	9817	broad.mit.edu	37	19	10600330	10600330	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:10600330C>A	ENST00000171111.5	-	4	2072	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W	KEAP1_ENST00000393623.2_Missense_Mutation_p.G509W	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G509W(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCACCTGCCCCGCTTCGGATG	0.602000													26	13					3.73148e-12	4.76619e-12	0.717897	1	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717036	39717036	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:39717036G>T	ENST00000553728.1	+	4	1471	c.1258G>T	c.(1258-1260)Gac>Tac	p.D420Y	MIA2_ENST00000556784.1_Missense_Mutation_p.D419Y|MIA2_ENST00000280082.3_Missense_Mutation_p.D420Y														p.D420Y(1)									AAGTGAATTAGACCCTGAAAA	0.338000													27	41					5.61819e-17	7.82533e-17	0.693898	1	0
NFRKB	4798	broad.mit.edu	37	11	129751624	129751624	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:129751624C>G	ENST00000446488.3	-	11	1419	c.1316G>C	c.(1315-1317)cGa>cCa	p.R439P	NFRKB_ENST00000524794.1_Missense_Mutation_p.R464P|NFRKB_ENST00000524746.1_Missense_Mutation_p.R439P|NFRKB_ENST00000304521.5_Missense_Mutation_p.R439P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	439					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	p.R464P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CATCTTACCTCGACTTTCTCC	0.478000											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	6					0	0	0.307466	0	0
CFHR1	3078	broad.mit.edu	37	1	196794686	196794686	+	Silent	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:196794686T>C	ENST00000320493.5	+	2	226	c.138T>C	c.(136-138)ccT>ccC	p.P46P	CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Silent_p.P46P|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	46	Sushi 1.				complement activation	extracellular space		p.P46P(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CCCAGGTTCCTACAGGGGAAG	0.338000													10	48					0	0	0.361761	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905074	45905074	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:45905074G>A	ENST00000311275.7	-	11	1657	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	ZMYND8_ENST00000458360.2_Silent_p.F463F|ZMYND8_ENST00000471951.2_Silent_p.F488F|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Silent_p.F405F|ZMYND8_ENST00000540497.1_Silent_p.F463F|ZMYND8_ENST00000536340.1_Silent_p.F495F|ZMYND8_ENST00000396281.4_Silent_p.F468F|ZMYND8_ENST00000262975.4_Silent_p.F468F|ZMYND8_ENST00000352431.2_Silent_p.F488F|ZMYND8_ENST00000372023.3_Silent_p.F463F|ZMYND8_ENST00000355972.4_Silent_p.F468F|ZMYND8_ENST00000360911.3_Silent_p.F463F|ZMYND8_ENST00000461685.1_Silent_p.F488F			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	468							protein binding|zinc ion binding	p.F488F(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTTATCCAGGAAGTCCATGG	0.632000													7	27					0	0	0.307466	0	0
LAMA1	284217	broad.mit.edu	37	18	6973142	6973142	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:6973142T>C	ENST00000389658.3	-	47	6781	c.6688A>G	c.(6688-6690)Aca>Gca	p.T2230A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2230	Laminin G-like 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.T2230A(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)	GATTTACTTGTTTTTGTTGGT	0.363000													47	26					0	0	0.859065	0	0
CCKBR	887	broad.mit.edu	37	11	6292013	6292013	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:6292013G>C	ENST00000525462.1	+	4	794	c.791G>C	c.(790-792)cGa>cCa	p.R264P	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.R264P|CCKBR_ENST00000532715.1_Missense_Mutation_p.R180P			P32239	GASR_HUMAN	cholecystokinin B receptor	215					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.R264P(2)		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)	AGCAGGGTCCGAAACCAAGGC	0.637000													15	14					0	0	0.520397	0	0
SLC10A7	84068	broad.mit.edu	37	4	147179844	147179844	+	Splice_Site	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:147179844C>A	ENST00000432059.2	-	10	1200	c.954_splice	c.e10+1	p.K318_splice	SLC10A7_ENST00000335472.7_Splice_Site_p.K331_splice|SLC10A7_ENST00000507030.1_Splice_Site_p.K331_splice|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Splice_Site_p.K331_splice			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	331						integral to membrane	bile acid:sodium symporter activity	p.K331N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GGGGACTCACCTTCTGCCTTG	0.413000													28	50					1.13719e-10	1.40349e-10	0.729181	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33564735	33564735	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:33564735C>A	ENST00000321505.4	+	1	915	c.735C>A	c.(733-735)ctC>ctA	p.L245L	KIAA1549L_ENST00000265654.5_Silent_p.L245L|KIAA1549L_ENST00000389726.3_Silent_p.L245L					KIAA1549-like									p.L245L(2)									GAGACTTGCTCCTCTCAAGCA	0.507000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	30					3.80469e-20	5.50927e-20	0.740014	1	0
SLC17A9	63910	broad.mit.edu	37	20	61594722	61594722	+	Splice_Site	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:61594722G>A	ENST00000370349.3	+	7	911		c.e7+1		SLC17A9_ENST00000370351.4_Splice_Site|SLC17A9_ENST00000488738.1_Splice_Site			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9						exocytosis|transmembrane transport	integral to membrane	transporter activity	p.?(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CTGCTGTCTGGTGAGCTGGGA	0.667000													11	23					0	0	0.387290	0	0
VIL1	7429	broad.mit.edu	37	2	219292707	219292707	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:219292707G>C	ENST00000248444.5	+	5	455	c.367G>C	c.(367-369)Gct>Cct	p.A123P	VIL1_ENST00000440053.1_Missense_Mutation_p.A123P|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	123	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.A123P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGGCGTGGCTTCTGGCAT	0.617000													31	126					0	0	0.827153	0	0
KIF15	56992	broad.mit.edu	37	3	44835823	44835823	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:44835823G>C	ENST00000326047.4	+	8	903	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	252	Kinesin-motor.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E252Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGTAATGAGATTGTGAA	0.418000													13	44					0	0	0.411799	0	0
SDK1	221935	broad.mit.edu	37	7	4169711	4169711	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:4169711G>C	ENST00000404826.2	+	27	4250	c.4111G>C	c.(4111-4113)Gag>Cag	p.E1371Q	SDK1_ENST00000389531.3_Missense_Mutation_p.E1371Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1371	Fibronectin type-III 7.				cell adhesion	integral to membrane		p.E1371Q(2)		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)		CCTCATCCTGGAGCGCACCAA	0.627000													19	64					0	0	0.608945	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605183	142605183	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:142605183T>C	ENST00000370503.2	-	1	120	c.37A>G	c.(37-39)Acg>Gcg	p.T13A		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	13								p.T13A(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTCTTCGTCTTCTCCCCA	0.458000													21	112					0	0	0.608945	0	0
PRDM5	11107	broad.mit.edu	37	4	121737722	121737722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:121737722G>A	ENST00000264808.3	-	7	991	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	PRDM5_ENST00000428209.2_Nonsense_Mutation_p.Q220*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.Q220*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	251					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.Q251*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGGTGCTGCTCAAAACTA	0.488000													3	39					0	0	0.115264	0	0
PRDM16	63976	broad.mit.edu	37	1	3103017	3103017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:3103017G>T	ENST00000378398.3	+	2	448	c.366G>T	c.(364-366)aaG>aaT	p.K122N	PRDM16_ENST00000511072.1_Missense_Mutation_p.K122N|PRDM16_ENST00000514189.1_Missense_Mutation_p.K122N|PRDM16_ENST00000270722.5_Missense_Mutation_p.K122N|PRDM16_ENST00000442529.2_Missense_Mutation_p.K122N|PRDM16_ENST00000441472.2_Missense_Mutation_p.K122N|PRDM16_ENST00000378391.2_Missense_Mutation_p.K122N			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	122	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.K122N(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGCGGCAAAGGAGACAGACT	0.612000			T	EVI1	"""MDS, AML"""								7	12					2.0095e-06	2.2349e-06	0.248553	1	0
CNST	163882	broad.mit.edu	37	1	246811078	246811078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:246811078G>T	ENST00000366513.4	+	9	1844	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	CNST_ENST00000366512.3_Missense_Mutation_p.E525D|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	525					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	p.E525D(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGCTTCCAGAGGTGTGTATGG	0.428000													48	52					1.86633e-21	2.76406e-21	0.870114	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232600610	232600610	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:232600610G>A	ENST00000366630.1	-	8	3154	c.2796C>T	c.(2794-2796)atC>atT	p.I932I	SIPA1L2_ENST00000262861.4_Silent_p.I932I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	932					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.I932I(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)				CAATTTCCCTGATGTCTTCAG	0.403000													11	55					0	0	0.411799	0	0
HRNR	388697	broad.mit.edu	37	1	152188244	152188244	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:152188244T>C	ENST00000368801.2	-	3	5936	c.5861A>G	c.(5860-5862)cAt>cGt	p.H1954R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1954					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGACCCATGTCGGCCACG	0.617000													15	1083					0	0	0.457914	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218276	130218276	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:130218276A>G	ENST00000276211.5	+	5	988	c.643A>G	c.(643-645)Att>Gtt	p.I215V	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I79V|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I203V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	215					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.I215V(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						TTCCTTTCCAATTGGCCAACG	0.493000													6	20					0	0	0.278610	0	0
TJP1	7082	broad.mit.edu	37	15	30008950	30008950	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:30008950C>T	ENST00000346128.6	-	23	4541	c.4067G>A	c.(4066-4068)cGa>cAa	p.R1356Q	TJP1_ENST00000356107.6_Missense_Mutation_p.R1356Q|TJP1_ENST00000400011.2_Missense_Mutation_p.R1280Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R1276Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1356					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.R1356Q(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGCTGTTTTCGATAATATTC	0.453000													36	19					0	0	0.796494	0	0
MIA3	375056	broad.mit.edu	37	1	222833533	222833533	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:222833533A>T	ENST00000344922.5	+	24	5015	c.4990A>T	c.(4990-4992)Aat>Tat	p.N1664Y	MIA3_ENST00000340535.7_Missense_Mutation_p.N542Y|MIA3_ENST00000344441.6_Missense_Mutation_p.N1664Y|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1664	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.N1664Y(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTGAGCCAGAATGGCTCTTT	0.468000													38	19					0	0	0.847076	0	0
KYNU	8942	broad.mit.edu	37	2	143743548	143743548	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:143743548G>A	ENST00000264170.4	+	10	1118	c.860G>A	c.(859-861)gGt>gAt	p.G287D	KYNU_ENST00000409512.1_Missense_Mutation_p.G287D|KYNU_ENST00000375773.2_Missense_Mutation_p.G287D	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	287					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.G287D(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGAATTGCTGGTGCCTTCATT	0.318000													6	28					0	0	0.278610	0	0
SLC25A15	10166	broad.mit.edu	37	13	41373228	41373228	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:41373228G>C	ENST00000338625.4	+	3	327	c.91G>C	c.(91-93)Gac>Cac	p.D31H	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	31					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.D31H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	GCAGCCCTTTGACACAATGAA	0.542000													22	36					0	0	0.654019	0	0
CPSF2	53981	broad.mit.edu	37	14	92600598	92600598	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:92600598G>A	ENST00000298875.4	+	5	599	c.314G>A	c.(313-315)cGa>cAa	p.R105Q		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	105					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	p.R105Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTTTAGTCTCGACACAATACA	0.299000													19	35					0	0	0.575678	0	0
CHD7	55636	broad.mit.edu	37	8	61654428	61654428	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:61654428G>T	ENST00000423902.2	+	2	916	c.437G>T	c.(436-438)gGc>gTc	p.G146V	CHD7_ENST00000525508.1_Missense_Mutation_p.G146V|CHD7_ENST00000524602.1_Missense_Mutation_p.G146V	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	146					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.G146V(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCATGTGGGGCCCCAGGGCT	0.657000													10	8					0.00829132	0.00853947	0.361761	1	0
UNC5D	137970	broad.mit.edu	37	8	35606136	35606136	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:35606136A>T	ENST00000287272.2	+	11	1671	c.1651A>T	c.(1651-1653)Atc>Ttc	p.I551F	UNC5D_ENST00000453357.2_Missense_Mutation_p.I615F|UNC5D_ENST00000449677.1_Missense_Mutation_p.I196F|UNC5D_ENST00000416672.1_Missense_Mutation_p.I625F|UNC5D_ENST00000420357.1_Missense_Mutation_p.I553F|UNC5D_ENST00000404895.2_Missense_Mutation_p.I620F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	620	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.I615F(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCATTGACCATCCCGCACTG	0.502000													37	25					0	0	0.819951	0	0
CHL1	10752	broad.mit.edu	37	3	419533	419533	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:419533C>A	ENST00000256509.2	+	16	2426	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y	CHL1_ENST00000397491.2_Missense_Mutation_p.S579Y|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	579	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S595Y(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGACCATATCTAATGTAACT	0.353000													41	50					8.16277e-20	1.17616e-19	0.827153	1	0
ANKRD33	341405	broad.mit.edu	37	12	52282534	52282534	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:52282534C>A	ENST00000301190.6	+	2	555	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0								p.Q110K(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TGATCCCACCCAGCTCCAAGC	0.647000													28	15					5.60225e-13	7.3318e-13	0.740014	1	0
TRPV6	55503	broad.mit.edu	37	7	142573311	142573311	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:142573311G>T	ENST00000359396.3	-	8	1277	c.1032C>A	c.(1030-1032)acC>acA	p.T344T		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	344					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.T344T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGCAGCACATGGTGAAGCAGA	0.587000													34	89					2.80507e-11	3.50634e-11	0.760397	1	0
ALKBH8	91801	broad.mit.edu	37	11	107423852	107423852	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:107423852C>G	ENST00000428149.2	-	5	728	c.577G>C	c.(577-579)Gat>Cat	p.D193H	ALKBH8_ENST00000417449.2_Missense_Mutation_p.D196H|ALKBH8_ENST00000429370.1_Missense_Mutation_p.D193H|ALKBH8_ENST00000389568.3_Missense_Mutation_p.D193H	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	193					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	p.D193H(2)|p.D196H(1)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AATGGCTTATCTTTATCTACA	0.303000													4	49					0	0	0.184627	0	0
MYOF	26509	broad.mit.edu	37	10	95116584	95116584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:95116584G>A	ENST00000371501.4	-	30	3264	c.3142C>T	c.(3142-3144)Caa>Taa	p.Q1048*	MYOF_ENST00000358334.5_Nonsense_Mutation_p.Q1035*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.Q1048*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.Q1048*			Q9NZM1	MYOF_HUMAN	myoferlin	1048					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.Q1048*(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGCCCTCTTGGTCTTGCAAT	0.408000													15	23					0	0	0.479597	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612618	79612618	+	RNA	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:79612618T>C	ENST00000328585.4	+	0	727				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane		p.C213L(1)		ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTGAGGTGCTGCGGAGCTGC	0.652000													6	9					0	0	0.248553	0	0
REG3G	130120	broad.mit.edu	37	2	79255046	79255046	+	Silent	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:79255046G>C	ENST00000272324.5	+	5	631	c.447G>C	c.(445-447)ctG>ctC	p.L149L	REG3G_ENST00000409471.1_Silent_p.L103L|REG3G_ENST00000393897.2_Silent_p.L149L	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	149	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.L149L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGCCTGTCAAGAAGCA	0.488000													38	43					0	0	0.834066	0	0
RUNDC1	146923	broad.mit.edu	37	17	41142924	41142924	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:41142924G>T	ENST00000361677.1	+	5	1045	c.1033G>T	c.(1033-1035)Gcg>Tcg	p.A345S		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	345								p.A345S(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GATGCGGCGAGCGCTGGCCGT	0.577000													35	54					2.95478e-19	4.2057e-19	0.840704	1	0
ADD2	119	broad.mit.edu	37	2	70901905	70901905	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:70901905G>A	ENST00000264436.3	-	14	2090	c.1646C>T	c.(1645-1647)tCa>tTa	p.S549L	ADD2_ENST00000355733.3_Missense_Mutation_p.S549L|ADD2_ENST00000407644.2_Missense_Mutation_p.S549L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	549					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.S549L(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGTCTCCTCTGAATCGTCTTT	0.512000													40	51					0	0	0.853193	0	0
AQP12B	653437	broad.mit.edu	37	2	241621957	241621957	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:241621957C>G	ENST00000407834.3	-	1	360	c.298G>C	c.(298-300)Gag>Cag	p.E100Q		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	88						integral to membrane	transporter activity	p.E100Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		ATGAGGAACTCCTGCAGGGAC	0.687000													3	25					0	0	0.248553	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600588	232600588	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:232600588C>G	ENST00000366630.1	-	8	3176	c.2818G>C	c.(2818-2820)Gta>Cta	p.V940L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V940L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	940					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.V940L(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)				GTACTTACTACTAATCGCTGA	0.383000													11	41					0	0	0.387290	0	0
OR13C9	286362	broad.mit.edu	37	9	107379868	107379868	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:107379868G>A	ENST00000259362.1	-	1	617	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F206F(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCATCAATGTGAACAATATTG	0.418000													18	38					0	0	0.575678	0	0
CCDC171	203238	broad.mit.edu	37	9	15721814	15721814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:15721814G>T	ENST00000380701.3	+	12	1694	c.1366G>T	c.(1366-1368)Gag>Tag	p.E456*	CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E456*	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	456								p.E456*(1)									TGTTGTCCTTGAGAGATTGAG	0.423000													65	27					3.07281e-33	4.80641e-33	0.870114	1	0
CSMD3	114788	broad.mit.edu	37	8	114290908	114290908	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:114290908G>C	ENST00000297405.5	-	3	671	c.427C>G	c.(427-429)Cca>Gca	p.P143A	CSMD3_ENST00000343508.3_Missense_Mutation_p.P103A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P143A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P143A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	143	CUB 1.					integral to membrane|plasma membrane		p.P103A(1)|p.P143A(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						CTTGTCACTGGAGGTGGCAGA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	58					0	0	0.307466	0	0
LAMA2	3908	broad.mit.edu	37	6	129465092	129465092	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:129465092C>A	ENST00000421865.2	+	5	735	c.686C>A	c.(685-687)tCt>tAt	p.S229Y		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	229	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S229Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGATCCTTCTCCAGAACTG	0.373000													29	30					3.73148e-12	4.76619e-12	0.717897	1	0
SDPR	8436	broad.mit.edu	37	2	192700754	192700754	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:192700754C>T	ENST00000304141.4	-	2	1502	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	391						caveola|cytosol	phosphatidylserine binding|protein binding	p.Q391Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGCGTACCTTCTGTGCCTGTT	0.612000													27	96					0	0	0.717897	0	0
HCN1	348980	broad.mit.edu	37	5	45262537	45262537	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:45262537G>T	ENST00000303230.4	-	8	2216	c.2159C>A	c.(2158-2160)gCc>gAc	p.A720D		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	720						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A720D(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGTGGGGGAGGCATAGTGGAA	0.662000													14	22					1.52009e-12	1.96303e-12	0.479597	1	0
TRO	7216	broad.mit.edu	37	X	54956525	54956525	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:54956525C>G	ENST00000173898.7	+	12	3480	c.3368C>G	c.(3367-3369)cCc>cGc	p.P1123R	TRO_ENST00000375041.2_Missense_Mutation_p.P726R|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.P654R	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1123	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.P1123R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGTGGTACTCCCAGCAACAGC	0.587000													28	16					0	0	0.706142	0	0
TNNT3	7140	broad.mit.edu	37	11	1955021	1955021	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:1955021C>A	ENST00000381558.1	+	9	497	c.218C>A	c.(217-219)gCc>gAc	p.A73D	TNNT3_ENST00000381579.3_Missense_Mutation_p.A73D|TNNT3_ENST00000278317.6_Missense_Mutation_p.A81D|TNNT3_ENST00000381589.3_Missense_Mutation_p.A79D|TNNT3_ENST00000397301.1_Missense_Mutation_p.A92D|TNNT3_ENST00000381549.3_Missense_Mutation_p.A73D|TNNT3_ENST00000360603.3_Missense_Mutation_p.A75D|TNNT3_ENST00000446240.1_Missense_Mutation_p.A62D|TNNT3_ENST00000381561.4_Missense_Mutation_p.A84D|TNNT3_ENST00000381548.3_Missense_Mutation_p.A83D|TNNT3_ENST00000397304.2_Missense_Mutation_p.A62D			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	92					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.A79D(1)|p.A81D(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CACTTTGAAGCCCGGAAGAAG	0.602000													17	21					2.5808e-16	3.56077e-16	0.539581	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44021745	44021745	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:44021745G>C	ENST00000260605.8	+	6	570	c.470G>C	c.(469-471)aGa>aCa	p.R157T	DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.R157T|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R157T|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R31T	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	157						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	p.R157T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGAAATGAGACAGAAGATC	0.388000													21	54					0	0	0.608945	0	0
GLRA4	441509	broad.mit.edu	37	X	102974190	102974190	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:102974190G>T	ENST00000372617.4	-	7	1148	c.728C>A	c.(727-729)aCc>aAc	p.T243N		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	243						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.T243N(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTCGATGCAGGTGAATTTCCC	0.552000													48	14					3.21987e-24	4.81745e-24	0.870114	1	0
TAAR2	9287	broad.mit.edu	37	6	132938383	132938383	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:132938383C>A	ENST00000275191.2	-	1	934	c.827G>T	c.(826-828)tGg>tTg	p.W276L	TAAR2_ENST00000367931.1_Missense_Mutation_p.W321L|TAAR2_ENST00000537809.1_Missense_Mutation_p.W276L	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	321						plasma membrane	G-protein coupled receptor activity	p.W321L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TCTGCGAAACCAGGGATAGAA	0.353000													11	28					7.03913e-09	8.31897e-09	0.411799	1	0
LEFTY1	10637	broad.mit.edu	37	1	226075725	226075725	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:226075725G>T	ENST00000272134.5	-	2	337	c.258C>A	c.(256-258)gcC>gcA	p.A86A	LEFTY1_ENST00000492457.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Silent_p.R195R	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	86					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	p.A86A(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GGAACCTGCCGGCCACCTCTG	0.697000													7	16					0.00448238	0.00464928	0.307466	1	0
ASPM	259266	broad.mit.edu	37	1	197070516	197070516	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:197070516T>A	ENST00000367409.4	-	18	8121	c.7865A>T	c.(7864-7866)cAg>cTg	p.Q2622L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2622					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2622L(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						GTGCTGTTCCTGAATCTGTTT	0.348000													17	26					0	0	0.539581	0	0
GFOD2	81577	broad.mit.edu	37	16	67709851	67709851	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:67709851T>A	ENST00000268797.7	-	3	710	c.365A>T	c.(364-366)aAc>aTc	p.N122I	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	122						proteinaceous extracellular matrix	binding|oxidoreductase activity	p.N122I(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GCGCAGCACGTTCCCTACCAG	0.577000													8	45					0	0	0.307466	0	0
COLGALT2	23127	broad.mit.edu	37	1	183920145	183920145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:183920145C>A	ENST00000361927.4	-	8	1503	c.1132G>T	c.(1132-1134)Gga>Tga	p.G378*	COLGALT2_ENST00000367520.3_Nonsense_Mutation_p.G115*|COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.G378*	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2									p.G378*(1)									ACTCACTTTCCATCCACAGCC	0.493000													51	153					4.44712e-29	6.82826e-29	0.870114	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140746246	140746246	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:140746246G>C	ENST00000518069.1	+	1	2349	c.2349G>C	c.(2347-2349)gaG>gaC	p.E783D	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.E783D(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGTGAAGAGAGCTGTGAGA	0.507000													66	40					0	0	0.870114	0	0
SLC12A4	6560	broad.mit.edu	37	16	68002416	68002416	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:68002416C>T	ENST00000422611.2	-	1	181	c.142G>A	c.(142-144)Gcg>Acg	p.A48T	SLC12A4_ENST00000572010.1_Intron|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R14H|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R14H|SLC12A4_ENST00000572037.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R14H	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	0					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	p.R14H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATAGTCGCCGCGCCTCGGCCC	0.736000													13	12					0	0	0.457914	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962880	69962880	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:69962880G>A	ENST00000305231.7	+	1	688	c.642G>A	c.(640-642)atG>atA	p.M214I	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.M214I	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	214					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M214I(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						TAAAAAATATGATCTATGTGC	0.333000													45	49					0	0	0.859065	0	0
SLC45A2	51151	broad.mit.edu	37	5	33982488	33982488	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:33982488C>G	ENST00000382102.3	-	2	472	c.415G>C	c.(415-417)Gtt>Ctt	p.V139L	SLC45A2_ENST00000296589.4_Missense_Mutation_p.V139L|SLC45A2_ENST00000509381.1_Missense_Mutation_p.V139L|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000345083.5_Missense_Mutation_p.V139L	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	139					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.V139L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATGGCCCAAACCAGCTTCCTC	0.413000													8	32					0	0	0.278610	0	0
OVCH1	341350	broad.mit.edu	37	12	29614942	29614942	+	Splice_Site	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:29614942C>G	ENST00000318184.5	-	19	2125		c.e19-1		OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.?(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)					AGGCCACCATCTAATGAAGAA	0.428000													62	90					0	0	0.870114	0	0
SCN3A	6328	broad.mit.edu	37	2	165953895	165953895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:165953895G>T	ENST00000360093.3	-	23	4597	c.4106C>A	c.(4105-4107)aCg>aAg	p.T1369K	SCN3A_ENST00000283254.7_Missense_Mutation_p.T1369K|SCN3A_ENST00000409101.3_Missense_Mutation_p.T1320K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1369						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1369K(1)|p.T1320K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGTTACCCGTTGTCATGTT	0.403000													18	54					1.33834e-09	1.62433e-09	0.557998	1	0
RGS13	6003	broad.mit.edu	37	1	192613467	192613467	+	Translation_Start_Site	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:192613467G>C	ENST00000391995.2	+	4	291	c.3G>C	c.(1-3)atG>atC	p.M1I	RGS13_ENST00000543215.1_Start_Codon_SNP_p.M1I	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	1						plasma membrane	GTPase activator activity|signal transducer activity	p.M1I(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						TTAGAAAAATGAGCAGGCGGA	0.294000													22	80					0	0	0.624587	0	0
GLDC	2731	broad.mit.edu	37	9	6602161	6602161	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:6602161C>T	ENST00000321612.6	-	8	1253	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	368					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.R368K(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTGTTGCTCCCTGGTTTGAAG	0.473000													42	15					0	0	0.859065	0	0
PICALM	8301	broad.mit.edu	37	11	85722156	85722156	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:85722156T>C	ENST00000526033.1	-	7	998	c.682A>G	c.(682-684)Aac>Gac	p.N228D	PICALM_ENST00000393346.3_Missense_Mutation_p.N228D|PICALM_ENST00000356360.5_Missense_Mutation_p.N228D|PICALM_ENST00000532317.1_Missense_Mutation_p.N228D|PICALM_ENST00000528398.1_Missense_Mutation_p.N177D	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	228					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	p.N228D(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTGCATTGGTTCTTTTTCATA	0.294000			T	"""MLLT10, MLL"""	"""TALL, AML, """								7	37					0	0	0.248553	0	0
LRRK1	79705	broad.mit.edu	37	15	101597147	101597147	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:101597147C>A	ENST00000284395.5	+	29	4810	c.4410C>A	c.(4408-4410)gcC>gcA	p.A1470A	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.A1473A			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1473	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A1485A(1)|p.A1473A(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCAGATTGCCAAGAAGCTGT	0.597000													25	54					4.72057e-08	5.44681e-08	0.667858	1	0
CDH7	1005	broad.mit.edu	37	18	63548088	63548088	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:63548088C>A	ENST00000397968.2	+	12	2742	c.2316C>A	c.(2314-2316)ctC>ctA	p.L772L	CDH7_ENST00000323011.3_Silent_p.L772L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	772					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L772L(2)		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)				TTAAACGACTCGCGGACATGT	0.413000													22	51					6.33239e-15	8.57511e-15	0.592651	1	0
NOXO1	124056	broad.mit.edu	37	16	2030675	2030675	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:2030675C>T	ENST00000354249.4	-	3	571	c.202G>A	c.(202-204)Gtt>Att	p.V68I	NOXO1_ENST00000566005.1_Missense_Mutation_p.V68I|NOXO1_ENST00000356120.4_Missense_Mutation_p.V69I|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000397280.4_Missense_Mutation_p.V69I	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	69	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	p.V69I(1)		lung(2)	2						TTTGGGAGAACGCGGTCAGAT	0.667000													6	3					0	0	0.217242	0	0
ALG10	84920	broad.mit.edu	37	12	34179132	34179132	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:34179132A>T	ENST00000266483.2	+	3	1023	c.704A>T	c.(703-705)cAg>cTg	p.Q235L	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	235					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.Q235L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAAATTCTTCAGTTTCTTTTG	0.383000													49	143					0	0	0.870114	0	0
OR4X1	390113	broad.mit.edu	37	11	48286048	48286048	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:48286048G>A	ENST00000320048.1	+	1	636	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L212L(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						TCTTCGTGCTGATGGCTTCCT	0.562000													11	23					0	0	0.361761	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612619	79612619	+	RNA	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:79612619G>T	ENST00000328585.4	+	0	728				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane		p.C213L(1)		ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGAGGTGCTGCGGAGCTGCC	0.657000													6	9					0.0293803	0.0297877	0.248553	1	0
PLXDC1	57125	broad.mit.edu	37	17	37226180	37226180	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:37226180C>A	ENST00000315392.4	-	13	1523	c.1312G>T	c.(1312-1314)Gcg>Tcg	p.A438S	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A398S|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	438					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.A438S(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGATGGCCGCCACGAGGAGG	0.592000											OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	43					5.61819e-17	7.82533e-17	0.693898	1	0
ADAM33	80332	broad.mit.edu	37	20	3652068	3652068	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:3652068C>A	ENST00000356518.2	-	17	2222	c.1981G>T	c.(1981-1983)Ggg>Tgg	p.G661W	ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.G661W|ADAM33_ENST00000350009.2_Intron	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	661	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G661W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCTCTCACCCCGTGGCTGTGG	0.602000													49	82					6.56871e-35	1.03577e-34	0.870114	1	0
SMAD4	4089	broad.mit.edu	37	18	48573354	48573354	+	Silent	SNP	A	A	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:48573354A>C	ENST00000590722.2	+	3	326	c.222A>C	c.(220-222)ccA>ccC	p.P74P	SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000342988.3_5'UTR|SMAD4_ENST00000398417.2_5'UTR																							CACTGTTTCCAAAGGATCAAA	0.303000													11	11					0	0	0.387290	0	0
MEOX2	4223	broad.mit.edu	37	7	15652076	15652076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:15652076C>T	ENST00000262041.5	-	3	1260	c.851G>A	c.(850-852)gGg>gAg	p.G284E		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	284					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G284E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TATAGAGTCCCCTGTTTGCTG	0.507000													30	104					0	0	0.769981	0	0
OR4M1	441670	broad.mit.edu	37	14	20248812	20248812	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:20248812G>A	ENST00000315957.4	+	1	412	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E111K(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)		TGGGGCTTCGGAGATGTTCTT	0.478000													85	651					0	0	0.870114	0	0
GPR112	139378	broad.mit.edu	37	X	135438316	135438316	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:135438316C>A	ENST00000394143.1	+	9	7210	c.6919C>A	c.(6919-6921)Cga>Aga	p.R2307R	GPR112_ENST00000370652.1_Silent_p.R2307R|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Silent_p.R2102R|GPR112_ENST00000394141.1_Silent_p.R2102R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2307R(3)		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)					GGTCATGGATCGAGCTATTGT	0.343000													22	8					9.80776e-20	1.40971e-19	0.706142	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740006	140740006	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:140740006T>A	ENST00000522605.1	+	1	304	c.304T>A	c.(304-306)Tgt>Agt	p.C102S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.C102S(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)			GCAGCCTCTGTGTGTTCTGGA	0.413000													55	34					0	0	0.870114	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780441	68780441	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:68780441G>A	ENST00000508048.1	-	9	992	c.957C>T	c.(955-957)tcC>tcT	p.S319S	TMPRSS11A_ENST00000334830.7_Silent_p.S323S|TMPRSS11A_ENST00000396188.2_Silent_p.S320S|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	323	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.S323S(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GATCATTTTGGGATTCCCCTT	0.373000													33	99					0	0	0.796494	0	0
MMEL1	79258	broad.mit.edu	37	1	2530196	2530196	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:2530196G>T	ENST00000288709.6	-	12	1288	c.1048C>A	c.(1048-1050)Cta>Ata	p.L350I	MMEL1_ENST00000502556.1_Missense_Mutation_p.L202I|MMEL1_ENST00000378412.3_Missense_Mutation_p.L359I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	359					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.L350I(1)|p.L350V(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACAGAGGATAGCACAGTTTGT	0.483000													15	22					6.31663e-08	7.25978e-08	0.479597	1	0
OR8J1	219477	broad.mit.edu	37	11	56128532	56128532	+	Silent	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:56128532T>A	ENST00000303039.3	+	1	842	c.810T>A	c.(808-810)acT>acA	p.T270T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T270T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CACTGGATACTGATGATAAGA	0.418000													29	115					0	0	0.760397	0	0
CA10	56934	broad.mit.edu	37	17	49713356	49713356	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:49713356G>T	ENST00000451037.2	-	7	1589	c.649C>A	c.(649-651)Cta>Ata	p.L217I	CA10_ENST00000442502.2_Missense_Mutation_p.L217I|CA10_ENST00000285273.4_Missense_Mutation_p.L217I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.L223I|CA10_ENST00000570565.1_Missense_Mutation_p.L142I	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	217					brain development			p.L217I(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			AGCCCCTGTAGTAAATATGCA	0.383000													37	60					8.16277e-20	1.17616e-19	0.827153	1	0
RNF207	388591	broad.mit.edu	37	1	6266722	6266722	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:6266722G>C	ENST00000377939.4	+	2	254	c.127G>C	c.(127-129)Gac>Cac	p.D43H	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	43						intracellular	zinc ion binding	p.D43H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CTGTTTCCACGACTTCTGTGC	0.682000													22	23					0	0	0.654019	0	0
EYA1	2138	broad.mit.edu	37	8	72127688	72127688	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:72127688T>A	ENST00000340726.3	-	16	2170	c.1531A>T	c.(1531-1533)Aaa>Taa	p.K511*	EYA1_ENST00000303824.7_Nonsense_Mutation_p.K505*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.K478*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.K477*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.K511*|EYA1_ENST00000388743.2_Nonsense_Mutation_p.K510*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.K476*	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	511					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.K511*(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)			AGCAGGACTTTCGCCAATGCT	0.338000													24	85					0	0	0.667858	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761972	130761972	+	Silent	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:130761972T>A	ENST00000392429.1	+	2	2783	c.405T>A	c.(403-405)atT>atA	p.I135I	TMEM200A_ENST00000296978.3_Silent_p.I135I|TMEM200A_ENST00000545622.1_Silent_p.I135I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	135						integral to membrane		p.I135I(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)		CCATGGGGATTGGCATTTTCA	0.423000													22	62					0	0	0.592651	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704234	117704234	+	Missense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:117704234A>T	ENST00000355044.3	+	29	4210	c.4084A>T	c.(4084-4086)Act>Tct	p.T1362S	ATRNL1_ENST00000303745.7_Missense_Mutation_p.T155S|ATRNL1_ENST00000423111.2_Missense_Mutation_p.T413S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1362						integral to membrane	sugar binding	p.T1362S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TAAAGATAAGACTTCTGGAGT	0.408000													4	76					0	0	0.150653	0	0
BUB1B	701	broad.mit.edu	37	15	40512823	40512823	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:40512823G>A	ENST00000287598.6	+	23	3211	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E1020K	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1006	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.E1006K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGCCAATGATGAGGCCACAGT	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				35	76					0	0	0.796494	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747367	62747367	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:62747367C>G	ENST00000377871.3	-	7	1357	c.1091G>C	c.(1090-1092)gGa>gCa	p.G364A	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.G364A|SLC22A6_ENST00000421062.2_Missense_Mutation_p.G364A|SLC22A6_ENST00000360421.4_Missense_Mutation_p.G364A	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	364					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.G364A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GATGCTGACTCCAAAGCCCTG	0.532000													17	50					0	0	0.557998	0	0
IGFL1	374918	broad.mit.edu	37	19	46733709	46733709	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:46733709C>A	ENST00000437936.1	+	3	281	c.258C>A	c.(256-258)ttC>ttA	p.F86L		NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	86						extracellular space	protein binding	p.F86L(1)		lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CCTGGACCTTCATGGTGAAGC	0.577000													72	32					1.2582e-26	1.91679e-26	0.870114	1	0
SCN2A	6326	broad.mit.edu	37	2	166245307	166245307	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:166245307G>A	ENST00000375437.2	+	27	5281	c.4991G>A	c.(4990-4992)gGc>gAc	p.G1664D	SCN2A_ENST00000283256.6_Missense_Mutation_p.G1664D|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1664D|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1664D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1664					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1664D(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)	TTTAACATCGGCCTCCTTCTT	0.478000													18	71					0	0	0.520397	0	0
CCDC73	493860	broad.mit.edu	37	11	32657332	32657332	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:32657332T>A	ENST00000335185.5	-	14	1138	c.1095A>T	c.(1093-1095)ttA>ttT	p.L365F	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	365								p.L365F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TAAGGGATGATAATTCATTTT	0.229000													10	18					0	0	0.335167	0	0
ASPM	259266	broad.mit.edu	37	1	197111524	197111524	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:197111524C>G	ENST00000367409.4	-	3	2114	c.1858G>C	c.(1858-1860)Gtg>Ctg	p.V620L	ASPM_ENST00000294732.7_Missense_Mutation_p.V620L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	620					mitosis	cytoplasm|nucleus	calmodulin binding	p.V620L(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						GGTGTTGTCACATTTTTTGTT	0.353000													53	174					0	0	0.870114	0	0
C22orf31	25770	broad.mit.edu	37	22	29454768	29454768	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr22:29454768C>G	ENST00000216071.4	-	3	886	c.835G>C	c.(835-837)Gta>Cta	p.V279L		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	279								p.V279L(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TTCTTGAGTACAGGCTCCTCG	0.478000													25	69					0	0	0.706142	0	0
GJA5	2702	broad.mit.edu	37	1	147231223	147231223	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:147231223C>G	ENST00000271348.2	-	2	285	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	GJA5_ENST00000369237.1_Missense_Mutation_p.E42Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	42					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E42Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CAGGAAGACTCAGCAGCTGTG	0.547000													21	51					0	0	0.608945	0	0
CD38	952	broad.mit.edu	37	4	15780139	15780139	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:15780139C>A	ENST00000226279.2	+	1	239	c.102C>A	c.(100-102)atC>atA	p.I34I		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	34					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	p.I34I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TGGTCCTGATCCTCGTCGTGG	0.667000													35	99					3.09479e-21	4.56033e-21	0.827153	1	0
ABCB11	8647	broad.mit.edu	37	2	169869891	169869891	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:169869891C>T	ENST00000263817.6	-	5	404	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	94	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.D94N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AACTCAACGTCGTAGTCAATA	0.428000													48	145					0	0	0.870114	0	0
NLRP14	338323	broad.mit.edu	37	11	7083652	7083652	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:7083652G>T	ENST00000299481.4	+	10	3239	c.2893G>T	c.(2893-2895)Ggg>Tgg	p.G965W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	965					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.G965W(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)		CCTGGACCTTGGGAACAACGA	0.423000													17	59					1.02788e-11	1.29593e-11	0.520397	1	0
DNER	92737	broad.mit.edu	37	2	230456401	230456401	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:230456401C>T	ENST00000341772.4	-	2	614	c.480G>A	c.(478-480)caG>caA	p.Q160Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	160					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.Q160Q(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)		TGTCAGGCTCCTGAGTAGCAG	0.552000													17	30					0	0	0.500413	0	0
OR51G2	81282	broad.mit.edu	37	11	4936466	4936466	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:4936466T>A	ENST00000322013.3	-	1	456	c.428A>T	c.(427-429)aAc>aTc	p.N143I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N143I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		AATGACTGTGTTGGTGAGAAT	0.493000													5	18					0	0	0.184627	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353979	45353979	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:45353979G>T	ENST00000359271.2	+	2	554	c.304G>T	c.(304-306)Gtc>Ttc	p.V102F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	102						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.V102F(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCCTGGCTGGTCCTGGGCCG	0.642000													15	54					2.32078e-09	2.79354e-09	0.479597	1	0
OR8K5	219453	broad.mit.edu	37	11	55927735	55927735	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:55927735C>G	ENST00000313447.1	-	1	58	c.59G>C	c.(58-60)cGg>cCg	p.R20P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20P(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)				CAGCTCAGGCCGCCTTGTGAG	0.443000													20	74					0	0	0.624587	0	0
ITGA2	3673	broad.mit.edu	37	5	52361674	52361674	+	Missense_Mutation	SNP	A	A	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:52361674A>C	ENST00000296585.5	+	15	1953	c.1810A>C	c.(1810-1812)Atc>Ctc	p.I604L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	604					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	p.I604L(2)		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)				CTTTTAGAAAATCTTGGGATC	0.403000													19	41					0	0	0.608945	0	0
TESK2	10420	broad.mit.edu	37	1	45923457	45923457	+	Translation_Start_Site	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:45923457T>C	ENST00000372086.3	-	2	401	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TESK2_ENST00000341771.6_Start_Codon_SNP_p.M1V|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000451835.2_Start_Codon_SNP_p.M1V|TESK2_ENST00000372084.1_Start_Codon_SNP_p.M1V	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	1					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M1V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CTCCGATCCATAGTCTAAATA	0.388000													9	28					0	0	0.335167	0	0
KIF2B	84643	broad.mit.edu	37	17	51900706	51900706	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:51900706G>T	ENST00000268919.4	+	1	468	c.312G>T	c.(310-312)tcG>tcT	p.S104S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	104					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S104S(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGCCCTCTTCGGCCATCAGGG	0.612000													56	74					2.81305e-35	4.44766e-35	0.870114	1	0
HEATR1	55127	broad.mit.edu	37	1	236760239	236760239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:236760239C>A	ENST00000366582.3	-	6	755	c.641G>T	c.(640-642)aGg>aTg	p.R214M	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.R214M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	214					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.R214M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAAGAGCACCCTCAACTGAGC	0.458000													43	45					1.86277e-20	2.7243e-20	0.870114	1	0
LMBRD1	55788	broad.mit.edu	37	6	70386117	70386117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:70386117G>T	ENST00000370577.3	-	16	1785	c.1556C>A	c.(1555-1557)tCg>tAg	p.S519*	LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S446*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	519					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.S519*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TTCAATAACCGATTTCTTCCC	0.323000													5	45					1.23904e-05	1.34478e-05	0.184627	1	0
RANBP10	57610	broad.mit.edu	37	16	67761665	67761665	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:67761665C>G	ENST00000317506.3	-	12	1724	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	RANBP10_ENST00000602677.1_Missense_Mutation_p.E567Q|RANBP10_ENST00000536251.1_Missense_Mutation_p.E308Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.E511Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.E450Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	537								p.E537Q(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGCAGCATCTCTGTGTGGGCC	0.602000													13	33					0	0	0.411799	0	0
COL24A1	255631	broad.mit.edu	37	1	86524848	86524848	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:86524848C>T	ENST00000370571.2	-	9	2128	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G588R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	588	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent	p.G588R(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAGCAAATCCTGGAATTCCC	0.333000													9	26					0	0	0.435327	0	0
FAM209B	388799	broad.mit.edu	37	20	55108465	55108465	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:55108465C>G	ENST00000371325.1	+	1	164	c.68C>G	c.(67-69)tCt>tGt	p.S23C		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	23						integral to membrane		p.S23F(1)|p.S23C(1)									TTTATGTTCTCTTCTCTGAGA	0.552000													30	112					0	0	0.796494	0	0
FSIP2	401024	broad.mit.edu	37	2	186673345	186673345	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:186673345G>A	ENST00000343098.5	+	17	19579	c.19579G>A	c.(19579-19581)Gaa>Aaa	p.E6527K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6438K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.E1136K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACCAACAAAGAATTTTATTA	0.303000													9	54					0	0	0.335167	0	0
TRPV6	55503	broad.mit.edu	37	7	142569542	142569542	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:142569542C>G	ENST00000359396.3	-	15	2341	c.2096G>C	c.(2095-2097)cGg>cCg	p.R699P		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	699	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.R699P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGTCCCTTGCCGAAGCCTTTC	0.577000													9	53					0	0	0.361761	0	0
INSC	387755	broad.mit.edu	37	11	15199882	15199882	+	Silent	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:15199882T>A	ENST00000379554.3	+	5	655	c.609T>A	c.(607-609)gtT>gtA	p.V203V	INSC_ENST00000379556.3_Silent_p.V156V|INSC_ENST00000530161.1_Silent_p.V156V|INSC_ENST00000528567.1_Silent_p.V156V|INSC_ENST00000424273.1_Silent_p.V156V|INSC_ENST00000525218.1_Silent_p.V156V	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	203					cell differentiation|nervous system development	cytoplasm	binding	p.V203V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCCTTCAGGTTGAGAATGAGC	0.572000													8	23					0	0	0.307466	0	0
NUP93	9688	broad.mit.edu	37	16	56855440	56855440	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:56855440G>T	ENST00000564887.1	+	5	849	c.220G>T	c.(220-222)Gta>Tta	p.V74L	NUP93_ENST00000542526.1_Missense_Mutation_p.V74L|NUP93_ENST00000308159.5_Missense_Mutation_p.V197L|NUP93_ENST00000569842.1_Missense_Mutation_p.V197L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	197					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.V197L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAGAAAATTGTAAATGGACA	0.403000													18	54					0.000175454	0.000186619	0.592651	1	0
NFIB	4781	broad.mit.edu	37	9	14146719	14146719	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:14146719A>T	ENST00000380959.3	-	6	1367	c.894T>A	c.(892-894)gcT>gcA	p.A298A	NFIB_ENST00000397579.2_Silent_p.A298A|NFIB_ENST00000380953.1_Silent_p.A298A|NFIB_ENST00000397575.3_Silent_p.A298A|NFIB_ENST00000380934.4_Silent_p.A324A|NFIB_ENST00000543693.1_Silent_p.A46A|NFIB_ENST00000380924.1_Silent_p.A46A|NFIB_ENST00000397581.2_Silent_p.A298A	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	298					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.A298A(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTCGACTTCCAGCAGCTGGTG	0.413000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								42	22					0	0	0.834066	0	0
YY1AP1	55249	broad.mit.edu	37	1	155642500	155642500	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:155642500T>C	ENST00000368340.5	-	6	956	c.848A>G	c.(847-849)cAa>cGa	p.Q283R	YY1AP1_ENST00000361831.5_Missense_Mutation_p.Q134R|YY1AP1_ENST00000295566.4_Missense_Mutation_p.Q211R|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000438245.2_Missense_Mutation_p.Q145R|YY1AP1_ENST00000405763.3_Missense_Mutation_p.Q283R|YY1AP1_ENST00000407221.1_Missense_Mutation_p.Q134R|YY1AP1_ENST00000404643.1_Missense_Mutation_p.Q145R|YY1AP1_ENST00000368330.2_Missense_Mutation_p.Q145R|YY1AP1_ENST00000355499.4_Missense_Mutation_p.Q145R|YY1AP1_ENST00000368339.5_Missense_Mutation_p.Q283R|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.Q145R|YY1AP1_ENST00000535662.1_Missense_Mutation_p.Q11R|YY1AP1_ENST00000359205.5_Missense_Mutation_p.Q134R|YY1AP1_ENST00000311573.5_Missense_Mutation_p.Q134R|MSTO1_ENST00000452804.2_Intron	NM_001198904.1	NP_001185833.1			YY1 associated protein 1									p.Q283R(1)|p.Q211R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GATGGAGCTTTGAGCAAAGGT	0.448000													12	45					0	0	0.539581	0	0
TEKT5	146279	broad.mit.edu	37	16	10721632	10721632	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:10721632G>A	ENST00000283025.2	-	7	1337	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	422					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.I422I(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGGTGTCGTCGATGGTGAACA	0.547000													6	13					0	0	0.248553	0	0
SPDEF	25803	broad.mit.edu	37	6	34508806	34508806	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:34508806G>A	ENST00000374037.3	-	3	1003	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	SPDEF_ENST00000544425.1_Silent_p.L197L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	197	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L197L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCCCCACCCAGGGGCGAGCGC	0.677000													6	22					0	0	0.307466	0	0
VTA1	51534	broad.mit.edu	37	6	142491482	142491482	+	Splice_Site	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:142491482G>T	ENST00000367630.4	+	4	393		c.e4-1		VTA1_ENST00000491881.1_Intron|VTA1_ENST00000452973.2_Splice_Site|VTA1_ENST00000367621.1_Splice_Site	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	p.?(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTCTCTTCCAGAAACATGATC	0.308000													29	122					8.16721e-17	1.13218e-16	0.750413	1	0
OR2F2	135948	broad.mit.edu	37	7	143632997	143632997	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:143632997C>A	ENST00000408955.2	+	1	739	c.672C>A	c.(670-672)acC>acA	p.T224T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCATCTCCACCATCCTAAAGA	0.507000													27	28					1.77063e-15	2.40329e-15	0.693898	1	0
GDAP1L1	78997	broad.mit.edu	37	20	42907638	42907638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:42907638C>A	ENST00000342560.5	+	6	890	c.802C>A	c.(802-804)Ctc>Atc	p.L268I	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.L76I	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	268	GST C-terminal.							p.L268I(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCTTCACCCTCGCTGATGT	0.582000													20	69					2.21704e-12	2.85047e-12	0.639603	1	0
FAM120AOS	158293	broad.mit.edu	37	9	96214681	96214681	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:96214681G>T	ENST00000375412.5	-	1	1193	c.311C>A	c.(310-312)cCc>cAc	p.P104H	FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000333936.5_Intron	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	104	Arg-rich.							p.P104H(1)|p.?(1)		kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						GGTGAGGCCGGGGATccgggc	0.746000													9	4					0.000673444	0.000707298	0.361761	1	0
CSMD3	114788	broad.mit.edu	37	8	113420573	113420573	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:113420573G>T	ENST00000297405.5	-	34	5823	c.5579C>A	c.(5578-5580)gCt>gAt	p.A1860D	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1820D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1756D|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1860	CUB 10.					integral to membrane|plasma membrane		p.A1860G(1)|p.A1860D(1)|p.A1820G(1)|p.A1820D(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						AAATCCCTTAGCTGTTATTGG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			56	84					8.4772e-36	1.35127e-35	0.870114	1	0
DUSP14	11072	broad.mit.edu	37	17	35872430	35872430	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:35872430T>C	ENST00000487847.1	+	2	1034	c.56T>C	c.(55-57)aTt>aCt	p.I19T	DUSP14_ENST00000394389.4_Missense_Mutation_p.I19T|DUSP14_ENST00000394386.1_Missense_Mutation_p.I19T			O95147	DUS14_HUMAN	dual specificity phosphatase 14	19							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.I19T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CCTCGGATGATTTCCGAGGGA	0.582000													4	39					0	0	0.150653	0	0
CYP3A5	1577	broad.mit.edu	37	7	99261603	99261603	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:99261603G>A	ENST00000343703.5	-	9	1142	c.756C>T	c.(754-756)aaC>aaT	p.N252N	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.N262N					cytochrome P450, family 3, subfamily A, polypeptide 5									p.N262N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TTTGTTTGTCGTTGAGGCGAC	0.299000													8	56					0	0	0.307466	0	0
KIAA1211	57482	broad.mit.edu	37	4	57173832	57173832	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:57173832G>T	ENST00000504228.1	+	3	357	c.252G>T	c.(250-252)caG>caT	p.Q84H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.Q77H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.Q84H			Q6ZU35	K1211_HUMAN	KIAA1211	84								p.Q84H(1)		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)					TTGTGACTCAGCAGGACATCG	0.512000													19	32					5.3912e-06	5.91718e-06	0.539581	1	0
SEC31B	25956	broad.mit.edu	37	10	102256931	102256931	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:102256931C>A	ENST00000370345.3	-	17	2194	c.2097G>T	c.(2095-2097)tgG>tgT	p.W699C		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	699					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		p.W699_A700>CS(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGCATTTTGCCCAGCACTCCA	0.607000													16	25					6.94344e-10	8.46232e-10	0.539581	1	0
ARHGAP5	394	broad.mit.edu	37	14	32563472	32563472	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:32563472A>T	ENST00000345122.3	+	2	3912	c.3597A>T	c.(3595-3597)ccA>ccT	p.P1199P	ARHGAP5_ENST00000539826.2_Silent_p.P1199P|ARHGAP5_ENST00000432921.1_Silent_p.P1199P|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.P1199P	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1199					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.P1199P(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGAAGATCCACTTCTTTCTC	0.388000													51	77					0	0	0.870114	0	0
IVD	3712	broad.mit.edu	37	15	40707610	40707610	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr15:40707610G>A	ENST00000249760.2	+	9	1232	c.889G>A	c.(889-891)Gcg>Acg	p.A297T	IVD_ENST00000479013.2_Missense_Mutation_p.A270T|IVD_ENST00000487418.2_Missense_Mutation_p.A300T	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	297					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	p.A297T(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-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;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GCTCATGCAAGCGGTCCTGGA	0.592000													10	23					0	0	0.361761	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175820	143175820	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:143175820C>T	ENST00000408916.1	+	1	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	285					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.F285F(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCCTCATCTTCAGCAACCTCA	0.502000													8	40					0	0	0.278610	0	0
RGS3	5998	broad.mit.edu	37	9	116224430	116224430	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:116224430C>G	ENST00000374140.2	+	4	573	c.364C>G	c.(364-366)Caa>Gaa	p.Q122E	RGS3_ENST00000350696.5_Missense_Mutation_p.Q122E	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	122					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.Q18E(1)|p.Q122E(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						TGAGTGGACTCAAACTTCTCC	0.547000													14	28					0	0	0.500413	0	0
MASP1	5648	broad.mit.edu	37	3	186974520	186974520	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr3:186974520G>T	ENST00000337774.5	-	5	1065	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	MASP1_ENST00000296280.6_Missense_Mutation_p.L226M|MASP1_ENST00000392470.2_Missense_Mutation_p.L200M|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.L226M|MASP1_ENST00000392472.2_Missense_Mutation_p.L113M	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	226	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.L226M(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCAAACTGCAGGTTGACCATG	0.517000													34	19					4.02929e-09	4.83019e-09	0.750413	1	0
CCM2L	140706	broad.mit.edu	37	20	30602724	30602724	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:30602724C>A	ENST00000300415.8	+	2	61	c.48C>A	c.(46-48)atC>atA	p.I16I	CCM2L_ENST00000262659.8_Silent_p.I16I					cerebral cavernous malformation 2-like									p.I16I(2)									TATCCCCCATCCGAAGGCTGG	0.577000													48	123					1.19451e-25	1.81504e-25	0.870114	1	0
PRDM4	11108	broad.mit.edu	37	12	108145425	108145425	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:108145425G>C	ENST00000228437.5	-	5	1352	c.893C>G	c.(892-894)tCt>tGt	p.S298C	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	298					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.S298C(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CACGCTTACAGAGTTGGTGCT	0.542000													12	34					0	0	0.435327	0	0
DIP2A	23181	broad.mit.edu	37	21	47957423	47957423	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr21:47957423C>A	ENST00000318711.7	+	15	1958	c.1775C>A	c.(1774-1776)tCc>tAc	p.S592Y	DIP2A_ENST00000400274.1_Missense_Mutation_p.S587Y|DIP2A_ENST00000457905.3_Missense_Mutation_p.S591Y|DIP2A_ENST00000427143.2_Missense_Mutation_p.S527Y|DIP2A_ENST00000417564.2_Missense_Mutation_p.S591Y|DIP2A_ENST00000435722.3_Missense_Mutation_p.S591Y|DIP2A_ENST00000466639.1_Missense_Mutation_p.S548Y	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	591					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.S527Y(1)|p.S591Y(1)|p.S592Y(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)		AACCCACTCTCCTGGATCCAG	0.537000													20	51					1.01871e-10	1.25993e-10	0.575678	1	0
SOX3	6658	broad.mit.edu	37	X	139586803	139586803	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:139586803C>A	ENST00000370536.2	-	1	422	c.423G>T	c.(421-423)cgG>cgT	p.R141R		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	141					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R141R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CGTTCATGGGCCGTTTCACAC	0.657000													20	10					1.96895e-08	2.29449e-08	0.639603	1	0
AOX1	316	broad.mit.edu	37	2	201523957	201523957	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:201523957C>A	ENST00000374700.2	+	28	3482	c.3241C>A	c.(3241-3243)Cct>Act	p.P1081T	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1081					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.P1081T(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAAACTGTCCCTAATGCAAA	0.453000													27	43					1.1804e-14	1.58379e-14	0.667858	1	0
GPC6	10082	broad.mit.edu	37	13	94482724	94482724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:94482724C>A	ENST00000377047.4	+	3	1252	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R213S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCAGGTTACCCGCGCCTTCAT	0.498000													22	10					5.35356e-11	6.64932e-11	0.639603	1	0
ANO2	57101	broad.mit.edu	37	12	5672696	5672696	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:5672696C>A	ENST00000546188.1	-	26	2840	c.2769G>T	c.(2767-2769)atG>atT	p.M923I	ANO2_ENST00000327087.8_Missense_Mutation_p.M922I|ANO2_ENST00000356134.5_Missense_Mutation_p.M923I			Q9NQ90	ANO2_HUMAN	anoctamin 2	927						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.M923I(1)|p.M922I(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						TGTCTGGAATCATCCAGTCCA	0.547000													29	19					4.3181e-19	6.13128e-19	0.769981	1	0
VPS13A	23230	broad.mit.edu	37	9	79933380	79933380	+	Missense_Mutation	SNP	T	T	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:79933380T>G	ENST00000360280.3	+	41	5446	c.5186T>G	c.(5185-5187)aTt>aGt	p.I1729S	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.I1729S|VPS13A_ENST00000376634.4_Missense_Mutation_p.I1729S|VPS13A_ENST00000376636.3_Missense_Mutation_p.I1690S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1729					Golgi to endosome transport|protein transport	intracellular	protein binding	p.I1729S(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTGATTCTATTTTTATAGTT	0.368000													30	55					0	0	0.717897	0	0
SEMA4G	57715	broad.mit.edu	37	10	102739888	102739888	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:102739888G>A	ENST00000210633.3	+	10	1216	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	SEMA4G_ENST00000517724.1_Missense_Mutation_p.D380N|SEMA4G_ENST00000370250.4_Missense_Mutation_p.D380N|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	380	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.D380N(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGTATCACAGATTCATTGCG	0.587000													3	26					0	0	0.115264	0	0
CST11	140880	broad.mit.edu	37	20	23433432	23433432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:23433432C>A	ENST00000377009.3	-	1	50	c.17G>T	c.(16-18)tGg>tTg	p.W6L	CST11_ENST00000377007.3_Missense_Mutation_p.W6L	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	6					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.W6F(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TAGGGCCTGCCAGGGCTCAGC	0.537000													13	23					7.03913e-09	8.31897e-09	0.411799	1	0
LMOD1	25802	broad.mit.edu	37	1	201869186	201869186	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:201869186C>T	ENST00000367288.4	-	2	1201	c.955G>A	c.(955-957)Gat>Aat	p.D319N		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	319					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	p.D319N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGAGGCTCATCAAATATGCTG	0.542000													7	25					0	0	0.278610	0	0
OR1N1	138883	broad.mit.edu	37	9	125288811	125288811	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:125288811G>A	ENST00000304880.2	-	1	761	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F254F(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGTAGGCACTGAAGAGGGTCC	0.542000													12	13					0	0	0.435327	0	0
TMIGD1	388364	broad.mit.edu	37	17	28651849	28651849	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:28651849G>T	ENST00000328886.4	-	4	697	c.625C>A	c.(625-627)Cac>Aac	p.H209N	TMIGD1_ENST00000538566.2_Missense_Mutation_p.H209N	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	209						integral to membrane		p.H209N(1)		breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						ACAATCAGGTGAAAGTCCAAG	0.403000													51	85					6.08268e-21	8.91821e-21	0.870114	1	0
RREB1	6239	broad.mit.edu	37	6	7230139	7230139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:7230139G>T	ENST00000379938.2	+	10	2344	c.1807G>T	c.(1807-1809)Gag>Tag	p.E603*	RREB1_ENST00000349384.6_Nonsense_Mutation_p.E603*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.E603*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.E603*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	603					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.E603*(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGCATCATCGAGGCCCTGCT	0.677000													7	25					2.7689e-08	3.22029e-08	0.248553	1	0
CCT4	10575	broad.mit.edu	37	2	62112193	62112193	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:62112193T>C	ENST00000394440.3	-	2	438	c.142A>G	c.(142-144)Att>Gtt	p.I48V	CCT4_ENST00000538252.1_5'UTR|CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000544079.1_Missense_Mutation_p.I48V|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	48					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	p.I48V(1)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CTTGTTCTAATAGCATCAGCA	0.378000													16	47					0	0	0.520397	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605902	1605902	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:1605902G>T	ENST00000382171.2	-	1	611	c.578C>A	c.(577-579)tCc>tAc	p.S193Y	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	193	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.S193Y(2)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCCCCTTGGATCCCCCACA	0.672000													9	15					2.27111e-07	2.57981e-07	0.411799	1	0
PLB1	151056	broad.mit.edu	37	2	28855876	28855876	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:28855876C>T	ENST00000422425.2	+	55	4079	c.4035C>T	c.(4033-4035)gcC>gcT	p.A1345A	PLB1_ENST00000541605.1_Silent_p.A321A|PLB1_ENST00000327757.5_Silent_p.A1356A	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1356	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.A1345A(1)|p.A1356A(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)					GCGGGCATGCCGAGATGGCCA	0.552000													16	44					0	0	0.520397	0	0
PCDH8	5100	broad.mit.edu	37	13	53418996	53418996	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:53418996C>A	ENST00000377942.3	-	3	3115	c.2912G>T	c.(2911-2913)gGg>gTg	p.G971V	PCDH8_ENST00000338862.4_Missense_Mutation_p.G874V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	971					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.G971V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TGCGTTGGGCCCGCTGCAGGA	0.582000													130	30					2.44049e-67	3.99913e-67	0.870114	1	0
CDK18	5129	broad.mit.edu	37	1	205495285	205495285	+	Silent	SNP	G	G	A	rs138968428		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:205495285G>A	ENST00000360066.2	+	6	850	c.549G>A	c.(547-549)gcG>gcA	p.A183A	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.A183A|CDK18_ENST00000506784.1_Silent_p.A213A	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	181	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.A183A(1)|p.A213A(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGGAGGGAGCGCCCTGCACTG	0.632000													4	23					0	0	0.184627	0	0
ZP4	57829	broad.mit.edu	37	1	238048073	238048073	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:238048073G>A	ENST00000366570.4	-	10	1544	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	462	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.L462L(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)			ACTCACGACTGAGATCAGGAC	0.493000													8	28					0	0	0.307466	0	0
TRAV10	28676	broad.mit.edu	37	14	22294115	22294115	+	RNA	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:22294115C>T	ENST00000390432.2	+	0	255																											TCATGACTTTCAGTGAGAACA	0.468000													18	73					0	0	0.557998	0	0
NUP210L	91181	broad.mit.edu	37	1	154027277	154027277	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:154027277T>C	ENST00000368559.3	-	24	3343	c.3272A>G	c.(3271-3273)aAa>aGa	p.K1091R	NUP210L_ENST00000368553.1_Missense_Mutation_p.K24R|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1091						integral to membrane		p.K1091R(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)			CAGTGTCATTTTCTCTGGAAG	0.368000													6	47					0	0	0.278610	0	0
GSX1	219409	broad.mit.edu	37	13	28368064	28368064	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:28368064G>T	ENST00000302945.2	+	2	822	c.774G>T	c.(772-774)cgG>cgT	p.R258R		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	258					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R258R(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		AGGACGACCGGGATCTTACGG	0.632000													14	8					2.32078e-09	2.79354e-09	0.479597	1	0
TNS1	7145	broad.mit.edu	37	2	218713187	218713187	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:218713187G>T	ENST00000171887.4	-	17	2130	c.1678C>A	c.(1678-1680)Ccc>Acc	p.P560T	TNS1_ENST00000430930.1_Missense_Mutation_p.P560T|TNS1_ENST00000419504.1_Missense_Mutation_p.P560T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	560						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P685T(1)|p.P560T(1)		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)		GACTCGTAGGGGTAGCCTCCT	0.652000													9	40					0.00448238	0.00464928	0.307466	1	0
CDH6	1004	broad.mit.edu	37	5	31299713	31299713	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:31299713C>T	ENST00000265071.2	+	5	1051	c.786C>T	c.(784-786)aaC>aaT	p.N262N	CDH6_ENST00000514738.1_Silent_p.N207N	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	262	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.N262N(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGATGTCAACGACAACCCTC	0.443000													14	72					0	0	0.457914	0	0
FLG	2312	broad.mit.edu	37	1	152276642	152276642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:152276642C>A	ENST00000368799.1	-	3	10755	c.10720G>T	c.(10720-10722)Ggc>Tgc	p.G3574C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3574	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3574C(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)			TGTCTGGAGCCATCTCTTGAC	0.562000									Ichthyosis				84	320					1.3009e-50	2.11985e-50	0.870114	1	0
SLC26A5	375611	broad.mit.edu	37	7	103038452	103038452	+	Nonsense_Mutation	SNP	C	C	A	rs144199565		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:103038452C>A	ENST00000306312.3	-	9	1159	c.898G>T	c.(898-900)Gga>Tga	p.G300*	SLC26A5_ENST00000393729.1_Nonsense_Mutation_p.G263*|SLC26A5_ENST00000432958.2_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393723.1_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393727.1_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393730.1_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393735.2_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000356767.4_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Nonsense_Mutation_p.G300*	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	300					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.G300*(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATGCCAGTTCCCATTACGACC	0.363000													22	59					2.70639e-06	2.99856e-06	0.624587	1	0
FKBP14	55033	broad.mit.edu	37	7	30065927	30065927	+	Splice_Site	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:30065927C>A	ENST00000222803.5	-	1	373		c.e1+1			NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa						protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.?(1)		breast(1)|large_intestine(2)|lung(2)	5						TAATTACTTACGTGGAGTGAA	0.458000													44	129					2.00842e-17	2.81757e-17	0.853193	1	0
MARCH3	115123	broad.mit.edu	37	5	126250695	126250695	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:126250695G>A	ENST00000308660.5	-	3	834	c.320C>T	c.(319-321)tCc>tTc	p.S107F	MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Missense_Mutation_p.S107F	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	107					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	p.S107F(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		GGTGTTTGAGGATGACAGCCA	0.557000													25	13					0	0	0.681144	0	0
COL4A5	1287	broad.mit.edu	37	X	107823933	107823933	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:107823933G>T	ENST00000328300.6	+	15	1100	c.856G>T	c.(856-858)Ggt>Tgt	p.G286C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G286C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	286	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G286C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGTGAGAAAGGTGAGAAGGG	0.378000									Alport syndrome with Diffuse Leiomyomatosis				11	29					1.58986e-06	1.77834e-06	0.361761	1	0
SLIT1	6585	broad.mit.edu	37	10	98762557	98762557	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:98762557T>A	ENST00000266058.4	-	35	4303	c.4058A>T	c.(4057-4059)cAg>cTg	p.Q1353L	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Q1353L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1353	EGF-like 7.				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.Q1353L(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)		GGCATTGGGCTGGCAGATGCC	0.652000													18	31					0	0	0.539581	0	0
THNSL1	79896	broad.mit.edu	37	10	25312405	25312405	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:25312405G>C	ENST00000524413.1	+	3	600	c.253G>C	c.(253-255)Gat>Cat	p.D85H	THNSL1_ENST00000376356.4_Missense_Mutation_p.D85H			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	85					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	p.D85H(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TTGTGTCATAGATGTGGATGA	0.383000													24	70					0	0	0.693898	0	0
PGM3	5238	broad.mit.edu	37	6	83881763	83881763	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:83881763T>C	ENST00000513973.1	-	11	1374	c.1258A>G	c.(1258-1260)Att>Gtt	p.I420V	PGM3_ENST00000512866.1_Missense_Mutation_p.I420V|PGM3_ENST00000506587.1_Missense_Mutation_p.I448V|PGM3_ENST00000283977.4_Missense_Mutation_p.I339V	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	420					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	p.I420V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		ATGTCAGAAATAGCATCACCA	0.408000													19	44					0	0	0.592651	0	0
NRXN2	9379	broad.mit.edu	37	11	64415750	64415750	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:64415750C>T	ENST00000265459.6	-	17	3805	c.3344G>A	c.(3343-3345)tGg>tAg	p.W1115*	NRXN2_ENST00000409571.1_Nonsense_Mutation_p.W1108*|NRXN2_ENST00000377559.3_Nonsense_Mutation_p.W1075*|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Nonsense_Mutation_p.W1115*	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1115	EGF-like 3.				cell adhesion	integral to membrane	metal ion binding	p.W1115*(1)		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						GAAGCCATCCCACTGCTGCAA	0.622000													52	68					0	0	0.870114	0	0
ZNF676	163223	broad.mit.edu	37	19	22362793	22362793	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:22362793C>A	ENST00000397121.2	-	3	2043	c.1726G>T	c.(1726-1728)Gtt>Ttt	p.V576F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V576F(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)				TGATAACTAACAGTTGAGGAT	0.363000													21	20					6.21321e-17	8.63356e-17	0.639603	1	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994266	45994266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr21:45994266C>A	ENST00000400374.3	+	1	661	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	211	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q211K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGCTGCCAGCAGTCTAGCTG	0.662000													22	51					7.92952e-12	1.00406e-11	0.667858	1	0
EXO1	9156	broad.mit.edu	37	1	242030245	242030245	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:242030245A>T	ENST00000366548.3	+	11	1748	c.1155A>T	c.(1153-1155)tcA>tcT	p.S385S	EXO1_ENST00000518483.1_Silent_p.S385S|EXO1_ENST00000348581.5_Silent_p.S385S	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	385	Interaction with MSH3.				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.S385S(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)			GTACTGTTTCAGATGCCCCAC	0.418000								Editing and processing nucleases					34	29					0	0	0.779181	0	0
FLG2	388698	broad.mit.edu	37	1	152331282	152331282	+	Missense_Mutation	SNP	T	T	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:152331282T>G	ENST00000388718.5	-	2	151	c.79A>C	c.(79-81)Aca>Cca	p.T27P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	27	EF-hand 1.|S-100-like (By similarity).						calcium ion binding|structural molecule activity	p.T27P(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)			TTGCTCAGTGTGCCACACTCC	0.463000													66	95					0	0	0.870114	0	0
GLI3	2737	broad.mit.edu	37	7	42006172	42006172	+	Silent	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:42006172G>C	ENST00000395925.3	-	15	2583	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	833					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L833L(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCACCCCAGAGAGGTCGCTTC	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				34	123					0	0	0.796494	0	0
ADH5	128	broad.mit.edu	37	4	99996201	99996201	+	Splice_Site	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:99996201C>G	ENST00000296412.8	-	7	876		c.e7-1			NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide						ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	GTGCTGCTCTCTGCAGGCACA	0.488000													59	81					0	0	0.870114	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159033	62159033	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:62159033C>T	ENST00000415229.2	+	6	865	c.650C>T	c.(649-651)tCa>tTa	p.S217L	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.S217L	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	217					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	p.S217L(1)		endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GGAGCCGTCTCAACCACAGGG	0.463000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21					0	0	0.335167	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18806799	18806799	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:18806799T>C	ENST00000304414.7	-	4	606	c.395A>G	c.(394-396)gAa>gGa	p.E132G	ARL6IP1_ENST00000546206.2_Missense_Mutation_p.E103G|ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.E132G	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	132						integral to membrane	protein binding	p.E132G(1)		breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CTTAGGTTTTTCTTCCTTTAG	0.348000													7	42					0	0	0.248553	0	0
WDR59	79726	broad.mit.edu	37	16	74982429	74982429	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:74982429G>A	ENST00000262144.6	-	6	563	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	145								p.L145L(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACAGCAGACAGTGCAACAGTA	0.438000													55	175					0	0	0.870114	0	0
XRN2	22803	broad.mit.edu	37	20	21329033	21329033	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:21329033C>A	ENST00000377191.3	+	19	1923	c.1828C>A	c.(1828-1830)Cta>Ata	p.L610I	XRN2_ENST00000430571.2_Missense_Mutation_p.L534I|XRN2_ENST00000539513.1_Missense_Mutation_p.L556I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	610					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	p.L610I(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGTAATTTTCTACCTCCATC	0.368000													72	106					4.49761e-31	6.97906e-31	0.870114	1	0
CCDC102A	92922	broad.mit.edu	37	16	57562734	57562734	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:57562734C>T	ENST00000258214.2	-	2	602	c.356G>A	c.(355-357)cGc>cAc	p.R119H		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	119								p.R119H(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CACCTCCTCGCGCGCGCGGTT	0.721000													5	6					0	0	0.184627	0	0
OR2F2	135948	broad.mit.edu	37	7	143632996	143632996	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:143632996C>A	ENST00000408955.2	+	1	738	c.671C>A	c.(670-672)aCc>aAc	p.T224N		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATCATCTCCACCATCCTAAAG	0.512000													26	27					2.44723e-14	3.26112e-14	0.681144	1	0
TBX5	6910	broad.mit.edu	37	12	114836423	114836423	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:114836423G>T	ENST00000310346.4	-	5	1131	c.465C>A	c.(463-465)ttC>ttA	p.F155L	TBX5_ENST00000405440.2_Missense_Mutation_p.F155L|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.F105L|TBX5_ENST00000526441.1_Missense_Mutation_p.F155L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	155					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F155L(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGAGTTTCTGGAAGGAGACGA	0.622000													9	5					0.00621372	0.0064223	0.335167	1	0
DYSF	8291	broad.mit.edu	37	2	71827870	71827870	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:71827870G>T	ENST00000258104.3	+	34	4018	c.3741G>T	c.(3739-3741)ccG>ccT	p.P1247P	DYSF_ENST00000409582.3_Silent_p.P1264P|DYSF_ENST00000409744.1_Silent_p.P1234P|DYSF_ENST00000394120.2_Silent_p.P1248P|DYSF_ENST00000410041.1_Silent_p.P1265P|DYSF_ENST00000409366.1_Silent_p.P1248P|DYSF_ENST00000409651.1_Silent_p.P1279P|DYSF_ENST00000410020.3_Silent_p.P1265P|DYSF_ENST00000409762.1_Silent_p.P1264P|DYSF_ENST00000429174.2_Silent_p.P1247P|DYSF_ENST00000413539.2_Silent_p.P1278P|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1247						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.P1265P(1)|p.P1247P(1)		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						TCTGTCAACCGAGTCTGGAAC	0.597000													64	81					5.98616e-33	9.33841e-33	0.870114	1	0
CALB2	794	broad.mit.edu	37	16	71417337	71417337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:71417337C>A	ENST00000302628.4	+	6	544	c.467C>A	c.(466-468)aCc>aAc	p.T156N	CALB2_ENST00000349553.5_Missense_Mutation_p.T156N	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	156	EF-hand 4.						calcium ion binding	p.T156N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CAGGAATACACCCAAACCATA	0.557000													12	13					0.010729	0.0109921	0.387290	1	0
PTCD1	26024	broad.mit.edu	37	7	99022675	99022675	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:99022675C>A	ENST00000292478.4	-	6	1730	c.1480G>T	c.(1480-1482)Gcc>Tcc	p.A494S	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A543S|PTCD1_ENST00000555673.1_Missense_Mutation_p.A543S	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.A494S(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ACCACCTCGGCCAGTAGCGTG	0.632000													21	72					2.70639e-06	2.99856e-06	0.624587	1	0
ITPR2	3709	broad.mit.edu	37	12	26809337	26809337	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:26809337A>T	ENST00000381340.3	-	19	2753	c.2337T>A	c.(2335-2337)tgT>tgA	p.C779*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	779					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	p.C779*(1)	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)					GCATGAGGCGACAGAAGGACG	0.562000													11	56					0	0	0.387290	0	0
SGK2	10110	broad.mit.edu	37	20	42213633	42213633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:42213633G>A	ENST00000373100.1	+	14	1541	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	SGK2_ENST00000373077.1_Missense_Mutation_p.D360N|SGK2_ENST00000373092.3_Missense_Mutation_p.D361N|SGK2_ENST00000341458.4_Missense_Mutation_p.D421N|SGK2_ENST00000426287.1_Missense_Mutation_p.D387N|SGK2_ENST00000423407.3_Missense_Mutation_p.D361N			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	421	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	p.D421N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGCGCCAGAGGATGATGACAT	0.512000													45	49					0	0	0.870114	0	0
KDM4B	23030	broad.mit.edu	37	19	5032934	5032934	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:5032934C>T	ENST00000159111.4	+	3	251	c.33C>T	c.(31-33)ccC>ccT	p.P11P	KDM4B_ENST00000536461.1_Silent_p.P11P|KDM4B_ENST00000381759.4_Silent_p.P11P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	11					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.P11P(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCAGAACCCCAGCTGTAAAA	0.587000													104	42					0	0	0.870114	0	0
FBXO25	26260	broad.mit.edu	37	8	401310	401310	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:401310C>G	ENST00000352684.2	+	6	733	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	RP11-91J19.3_ENST00000607549.1_RNA|FBXO25_ENST00000276326.5_Missense_Mutation_p.L173V|FBXO25_ENST00000382824.1_Missense_Mutation_p.L106V|FBXO25_ENST00000350302.3_Missense_Mutation_p.L173V	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	173						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	p.L173V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CAAAGATCTTCTGCAAGACCT	0.348000													18	43					0	0	0.557998	0	0
NDST4	64579	broad.mit.edu	37	4	115997821	115997821	+	Silent	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:115997821G>T	ENST00000264363.2	-	2	1050	c.372C>A	c.(370-372)ggC>ggA	p.G124G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	124	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.K125E(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTTCCCTTTGCCATTATCTG	0.378000													10	56					2.17888e-05	2.35609e-05	0.335167	1	0
DSG1	1828	broad.mit.edu	37	18	28934526	28934526	+	Silent	SNP	A	A	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr18:28934526A>T	ENST00000257192.4	+	15	2579	c.2367A>T	c.(2365-2367)acA>acT	p.T789T	RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Silent_p.T148T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	789					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.T789T(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)			CTCAGGAAACAGAGCCCGTTG	0.502000													35	47					0	0	0.779181	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968771	5968771	+	Missense_Mutation	SNP	C	C	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:5968771C>G	ENST00000399933.3	-	3	1459	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R487T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	487								p.R487T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGAAAGGGTCTCTGTTTATA	0.373000													10	42					0	0	0.335167	0	0
CDX4	1046	broad.mit.edu	37	X	72673394	72673394	+	Missense_Mutation	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chrX:72673394G>C	ENST00000373514.2	+	2	544	c.544G>C	c.(544-546)Gat>Cat	p.D182H		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D182H(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGTTTACACTGATCATCAAAG	0.393000													6	16					0	0	0.248553	0	0
STAM2	10254	broad.mit.edu	37	2	152977303	152977303	+	Missense_Mutation	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:152977303T>C	ENST00000263904.4	-	14	1712	c.1363A>G	c.(1363-1365)Act>Gct	p.T455A		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	455					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	p.T455A(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTGGAAACAGTGTCTTGTCCA	0.358000													38	48					0	0	0.812448	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715629	139715629	+	Missense_Mutation	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:139715629T>A	ENST00000263552.6	+	15	1874	c.1336T>A	c.(1336-1338)Tgg>Agg	p.W446R	TBXAS1_ENST00000425687.1_Missense_Mutation_p.W378R|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Missense_Mutation_p.W445R|TBXAS1_ENST00000458722.1_Missense_Mutation_p.W491R|TBXAS1_ENST00000411653.1_Missense_Mutation_p.W445R|TBXAS1_ENST00000436047.2_Missense_Mutation_p.W446R|TBXAS1_ENST00000336425.5_Missense_Mutation_p.W445R|TBXAS1_ENST00000416849.2_Missense_Mutation_p.W492R|TBXAS1_ENST00000414508.2_Missense_Mutation_p.W446R	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	445					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	p.W492R(1)|p.W446R(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCTGAGCACTGGCCAAGCCC	0.592000													14	43					0	0	0.435327	0	0
MEGF6	1953	broad.mit.edu	37	1	3519121	3519121	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:3519121G>A	ENST00000356575.4	-	2	401	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	59	EMI.					extracellular region	calcium ion binding	p.R59C(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACGGCTGGCGGCGGCCCACC	0.692000													21	13					0	0	0.624587	0	0
RET	5979	broad.mit.edu	37	10	43601846	43601846	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:43601846G>T	ENST00000355710.3	+	5	1122	c.890G>T	c.(889-891)cGt>cTt	p.R297L	RET_ENST00000340058.5_Missense_Mutation_p.R297L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	297					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R297L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCCACGCTGCGTGTCTTCGAT	0.642000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				5	26					0.014758	0.0149886	0.184627	1	0
MIA3	375056	broad.mit.edu	37	1	222801057	222801057	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:222801057G>T	ENST00000344922.5	+	4	520	c.495G>T	c.(493-495)atG>atT	p.M165I	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.M165I|MIA3_ENST00000344507.1_Missense_Mutation_p.M165I	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	165					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.M165I(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TACAGGATATGGAAAAAAACC	0.363000													30	40					1.39806e-14	1.87154e-14	0.729181	1	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									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)		GAAATCTCTTTATAAAACCTT	0.343000													4	98					0	0	0.150653	0	0
LGI2	55203	broad.mit.edu	37	4	25014044	25014044	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:25014044C>A	ENST00000382114.4	-	7	918	c.733G>T	c.(733-735)Gcc>Tcc	p.A245S		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	245						extracellular region		p.A245S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGCGCGATGGCCACGTACACA	0.478000													28	74					6.32553e-13	8.2415e-13	0.681144	1	0
DTWD2	285605	broad.mit.edu	37	5	118183794	118183794	+	Silent	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:118183794G>A	ENST00000304058.4	-	5	589	c.519C>T	c.(517-519)taC>taT	p.Y173Y	DTWD2_ENST00000515439.3_Silent_p.Y143Y|DTWD2_ENST00000510708.1_Silent_p.Y239Y			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	239								p.Y239Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CCTCTTGTATGTAATTATTTT	0.358000													20	38					0	0	0.575678	0	0
ABCA13	154664	broad.mit.edu	37	7	48337962	48337962	+	Splice_Site	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr7:48337962G>T	ENST00000435803.1	+	23	9223		c.e23-1			NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport	integral to membrane	ATP binding|ATPase activity	p.?(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTACTTTGCAGATGTAAAAAT	0.333000													14	34					3.27435e-08	3.80059e-08	0.457914	1	0
DNAH7	56171	broad.mit.edu	37	2	196749414	196749414	+	Silent	SNP	T	T	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:196749414T>A	ENST00000312428.6	-	35	5758	c.5658A>T	c.(5656-5658)cgA>cgT	p.R1886R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1886			R -> Q (in dbSNP:rs13034775).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1886R(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAACGTATTTCGAGTTCGAT	0.358000													16	44					0	0	0.500413	0	0
DYNLL2	140735	broad.mit.edu	37	17	56164475	56164475	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:56164475C>T	ENST00000240343.6	+	2	302	c.24C>T	c.(22-24)atC>atT	p.I8I		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	8					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity	p.I8I(1)		lung(3)	3						AGGCAGTGATCAAGAACGCAG	0.517000													21	23					0	0	0.624587	0	0
NTNG1	22854	broad.mit.edu	37	1	107691419	107691419	+	Silent	SNP	G	G	T	rs147345058	byFrequency	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:107691419G>T	ENST00000370067.1	+	2	831	c.204G>T	c.(202-204)ccG>ccT	p.P68P	NTNG1_ENST00000370068.1_Silent_p.P68P|NTNG1_ENST00000370072.3_Silent_p.P68P|NTNG1_ENST00000370073.2_Silent_p.P68P|NTNG1_ENST00000370074.4_Silent_p.P68P|NTNG1_ENST00000542803.1_Silent_p.P68P|NTNG1_ENST00000370061.3_Silent_p.P68P|NTNG1_ENST00000370065.1_Silent_p.P68P|NTNG1_ENST00000370070.2_Silent_p.P68P|NTNG1_ENST00000370066.1_Silent_p.P68P|NTNG1_ENST00000370071.2_Silent_p.P68P			Q9Y2I2	NTNG1_HUMAN	netrin G1	68	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.D69Y(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TCGATCCTCCGGATATTACCT	0.438000													26	69					1.17739e-12	1.52384e-12	0.693898	1	0
UTRN	7402	broad.mit.edu	37	6	145124231	145124231	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:145124231G>A	ENST00000367545.3	+	64	9305	c.9305G>A	c.(9304-9306)cGa>cAa	p.R3102Q	UTRN_ENST00000367526.4_Missense_Mutation_p.R657Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3102	Interaction with SYNM.				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.R3102Q(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)		TTTTCGGGTCGAACAGCAAAA	0.338000													40	39					0	0	0.847076	0	0
XIRP2	129446	broad.mit.edu	37	2	168103300	168103300	+	Missense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:168103300G>A	ENST00000409195.1	+	9	5487	c.5398G>A	c.(5398-5400)Gaa>Aaa	p.E1800K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1578K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1800K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1625					actin cytoskeleton organization	cell junction	actin binding	p.E1800K(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						GTCTCTGGTTGAACGTACTGT	0.403000													26	75					0	0	0.706142	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1709952	1709952	+	Silent	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:1709952G>C	ENST00000397412.3	+	11	2400	c.2301G>C	c.(2299-2301)acG>acC	p.T767T	CRAMP1L_ENST00000436138.3_Silent_p.T764T|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.T767T|CRAMP1L_ENST00000262317.4_Silent_p.T145T			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	767						nucleus	DNA binding	p.T767T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGTCGATGACGCCCCCAGGGA	0.627000													21	13					0	0	0.639603	0	0
CDH11	1009	broad.mit.edu	37	16	65026828	65026828	+	Silent	SNP	T	T	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:65026828T>C	ENST00000394156.3	-	5	1086	c.633A>G	c.(631-633)gaA>gaG	p.E211E	CDH11_ENST00000268603.4_Silent_p.E211E|CDH11_ENST00000566827.1_Silent_p.E85E			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	211	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E211E(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)		CTGTCTGTGCTTCCACCGAAA	0.438000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			4	23					0	0	0.150653	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872436	51872436	+	Silent	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:51872436C>T	ENST00000371497.5	+	2	3326	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	TSHZ2_ENST00000329613.6_Silent_p.S810S|TSHZ2_ENST00000603338.2_Silent_p.S810S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	813					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S813S(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)			CAGCCTCCTCCTCCAGGGTCC	0.547000													20	56					0	0	0.608945	0	0
PICALM	8301	broad.mit.edu	37	11	85722153	85722153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:85722153G>A	ENST00000526033.1	-	7	1001	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	PICALM_ENST00000393346.3_Nonsense_Mutation_p.Q229*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.Q229*|PICALM_ENST00000532317.1_Nonsense_Mutation_p.Q229*|PICALM_ENST00000528398.1_Nonsense_Mutation_p.Q178*	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	229					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	p.Q229*(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCTTTGCATTGGTTCTTTTTC	0.303000			T	"""MLLT10, MLL"""	"""TALL, AML, """								7	40					0	0	0.248553	0	0
LIMS2	55679	broad.mit.edu	37	2	128415049	128415049	+	Silent	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:128415049C>A	ENST00000409455.1	-	2	719	c.84G>T	c.(82-84)ggG>ggT	p.G28G	LIMS2_ENST00000355119.4_Silent_p.G33G|LIMS2_ENST00000409808.2_Silent_p.G28G|LIMS2_ENST00000410011.1_Silent_p.G28G|LIMS2_ENST00000324938.5_Silent_p.G57G|LIMS2_ENST00000545738.2_Silent_p.G55G			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	33	LIM zinc-binding 1.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.G57G(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GGTACAGCTCCCCATTGCTGT	0.632000													4	90					0.248553	0.251128	0.248553	1	0
FLG	2312	broad.mit.edu	37	1	152284712	152284712	+	Missense_Mutation	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:152284712G>T	ENST00000368799.1	-	3	2685	c.2650C>A	c.(2650-2652)Cgt>Agt	p.R884S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	884	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R884S(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)			GACTGCCCACGGGAGGCATCA	0.567000									Ichthyosis				209	347					3.0038e-84	4.97797e-84	0.870114	1	0
IRS2	8660	broad.mit.edu	37	13	110438032	110438032	+	Silent	SNP	G	G	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr13:110438032G>C	ENST00000375856.3	-	1	883	c.369C>G	c.(367-369)gcC>gcG	p.A123A		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	123	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	p.A123A(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGGCGGCCACGGCGAAGTACT	0.687000													2	2					0	0	0.150653	0	0
OR8U1	219417	broad.mit.edu	37	11	56143335	56143335	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:56143335C>A	ENST00000302270.1	+	1	236	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.P79H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GTCATTACACCCAAAATGCTT	0.388000													86	128					2.05912e-35	3.26446e-35	0.870114	1	0
TANC1	85461	broad.mit.edu	37	2	160080800	160080800	+	Missense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:160080800C>T	ENST00000263635.6	+	23	3973	c.3736C>T	c.(3736-3738)Cgg>Tgg	p.R1246W	TANC1_ENST00000454300.1_Missense_Mutation_p.R1140W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1246						cell junction|postsynaptic density|postsynaptic membrane	binding	p.R1246W(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAGCGGGATGCGGCCCTTGGA	0.592000													3	55					0	0	0.115264	0	0
DHX15	1665	broad.mit.edu	37	4	24531295	24531295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:24531295C>T	ENST00000336812.4	-	13	2355	c.2199G>A	c.(2197-2199)tgG>tgA	p.W733*	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	733					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	p.W733*(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TATAAAGCACCCATTCAGGTT	0.393000													36	27					0	0	0.796494	0	0
CFHR5	81494	broad.mit.edu	37	1	196953241	196953241	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:196953241C>A	ENST00000367414.5	+	3	532	c.476C>A	c.(475-477)tCc>tAc	p.S159Y	CFHR5_ENST00000256785.4_Missense_Mutation_p.S135Y	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	135	Sushi 3.				complement activation, alternative pathway	extracellular region		p.S135Y(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						CGGGGCTGGTCCACTCCTCCC	0.343000													7	23					0.000157383	0.000167704	0.278610	1	0
ZNF876P	642280	broad.mit.edu	37	4	248482	248482	+	RNA	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:248482G>T	ENST00000356347.3	+	0	1306					NR_027481.1																						CAAATGTAAAGAATGTGGCAA	0.388000													7	1					1.06961e-07	1.22451e-07	0.278610	1	0
C2CD3	26005	broad.mit.edu	37	11	73748715	73748715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:73748715G>A	ENST00000334126.7	-	30	5915	c.5689C>T	c.(5689-5691)Cag>Tag	p.Q1897*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.Q1897*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1897						centrosome		p.Q1897*(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)					AAGTACCTCTGAATCTGATCA	0.488000													11	39					0	0	0.387290	0	0
RP1L1	94137	broad.mit.edu	37	8	10465293	10465293	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:10465293C>A	ENST00000382483.3	-	4	6538	c.6315G>T	c.(6313-6315)gaG>gaT	p.E2105D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2105					intracellular signal transduction			p.E2105D(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)		CCCCTTCTGCCTCTGGGGCCT	0.612000													59	128					8.81991e-31	1.36138e-30	0.870114	1	0
APCDD1L	164284	broad.mit.edu	37	20	57042210	57042210	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:57042210C>A	ENST00000371149.3	-	3	923	c.693G>T	c.(691-693)agG>agT	p.R231S	APCDD1L_ENST00000439429.1_Missense_Mutation_p.R242S	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	231						integral to membrane		p.R231S(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGTAGTGCCGCCTCTCCGCCG	0.736000													25	32					4.7796e-09	5.68307e-09	0.681144	1	0
OR2D3	120775	broad.mit.edu	37	11	6943214	6943214	+	Missense_Mutation	SNP	C	C	A			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr11:6943214C>A	ENST00000317834.3	+	1	1010	c.982C>A	c.(982-984)Cat>Aat	p.H328N		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H328N(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)		GTGCTTCTCTCATAGGCAGTG	0.403000													14	24					0.000219431	0.000232972	0.457914	1	0
THSD7B	80731	broad.mit.edu	37	2	138169178	138169178	+	Splice_Site	SNP	G	G	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:138169178G>T	ENST00000409968.1	+	14	2873		c.e14-1		THSD7B_ENST00000272643.3_Splice_Site|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Splice_Site					thrombospondin, type I, domain containing 7B									p.?(2)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTTGGAACAGGGAAAAGCAG	0.338000													17	40					9.16793e-09	1.07912e-08	0.520397	1	0
ADCY8	114	broad.mit.edu	37	8	131848553	131848553	+	Missense_Mutation	SNP	A	A	G			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr8:131848553A>G	ENST00000286355.5	-	12	4737	c.2645T>C	c.(2644-2646)cTg>cCg	p.L882P	ADCY8_ENST00000377928.3_Missense_Mutation_p.L751P	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	882					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.L882P(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)			GTCATAACGCAGAAAGAGGCC	0.527000										HNSCC(32;0.087)			20	46					0	0	0.592651	0	0
ARID1A	8289	broad.mit.edu	37	1	27092956	27092957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:27092956_27092957insC	ENST00000324856.7	+	10	3258_3259	c.2887_2888insC	c.(2887-2889)cagfs	p.Q963fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.Q580fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.Q963fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	963					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		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)		AGGGATGGCAGCCAGCCCAGAG	0.446			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	32	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													4	8	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	RNA	DEL	T	T	-	rs2005502	by1000genomes	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244													4	6	---	---	---	---					
FN1	2335	broad.mit.edu	37	2	216295517	216295518	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:216295517_216295518insT	ENST00000354785.4	-	5	974_975	c.605_606insA	c.(604-606)gaafs	p.E202fs	FN1_ENST00000446046.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000323926.6_Frame_Shift_Ins_p.E202fs|FN1_ENST00000432072.2_Frame_Shift_Ins_p.E202fs|FN1_ENST00000356005.4_Frame_Shift_Ins_p.E202fs|FN1_ENST00000421182.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000359671.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000357867.4_Frame_Shift_Ins_p.E202fs|FN1_ENST00000443816.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000357009.2_Frame_Shift_Ins_p.E202fs|FN1_ENST00000345488.5_Frame_Shift_Ins_p.E202fs|FN1_ENST00000336916.4_Frame_Shift_Ins_p.E202fs|FN1_ENST00000346544.3_Frame_Shift_Ins_p.E202fs|FN1_ENST00000426059.1_Frame_Shift_Ins_p.E202fs			P02751	FINC_HUMAN	fibronectin 1	202	Fibrin- and heparin-binding 1.|Fibronectin type-I 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAGGGCTTCTCCCACGTTTC	0.441													15	59	---	---	---	---					
PAX3	5077	broad.mit.edu	37	2	223084911	223084911	+	Frame_Shift_Del	DEL	G	G	-	rs45607236		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr2:223084911delG	ENST00000350526.4	-	7	1257	c.1121delC	c.(1120-1122)tgfs	p.S374fs	PAX3_ENST00000392070.2_Frame_Shift_Del_p.S374fs|PAX3_ENST00000336840.6_Frame_Shift_Del_p.S374fs|PAX3_ENST00000392069.2_Frame_Shift_Del_p.S374fs|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000409551.3_Frame_Shift_Del_p.S373fs|PAX3_ENST00000344493.4_Frame_Shift_Del_p.S374fs	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	374					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		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)		GGAGGGCCCCGACGGAGGCAC	0.552			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						8	51	---	---	---	---					
PLRG1	5356	broad.mit.edu	37	4	155465648	155465648	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr4:155465648delT	ENST00000499023.2	-	7	669	c.543delA	c.(541-543)aafs	p.K181fs	PLRG1_ENST00000302078.5_Frame_Shift_Del_p.K172fs|PLRG1_ENST00000393905.2_Frame_Shift_Del_p.K181fs	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	181						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TTGTAGGGGCTTTTTTAGCCA	0.408													9	1096	---	---	---	---					
APC	324	broad.mit.edu	37	5	112173704	112173704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:112173704delC	ENST00000457016.1	+	16	2793	c.2413delC	c.(2413-2415)gafs	p.R805fs	APC_ENST00000508376.2_Frame_Shift_Del_p.R805fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.R805fs			P25054	APC_HUMAN	adenomatous polyposis coli	805	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.R805*(10)|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)		TGACACCAATCGACATGATGA	0.373		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)			49	28	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													5	8	---	---	---	---					
ENPP3	5169	broad.mit.edu	37	6	132061443	132061444	+	Frame_Shift_Del	DEL	CC	CC	-	rs149553053		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr6:132061443_132061444delCC	ENST00000414305.1	+	25	2708_2709	c.2380_2381delCC	c.(2380-2382)gfs	p.P794fs	ENPP3_ENST00000357639.3_Frame_Shift_Del_p.P794fs|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	794	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.P794L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAGCCACACACCGGAAAACTGC	0.485													40	45	---	---	---	---					
MAP1LC3BP1	392288	broad.mit.edu	37	9	19461310	19461310	+	RNA	DEL	G	G	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr9:19461310delG	ENST00000438342.1	-	0	363																											GGCCTGGTGCGGGGATCCAgg	0.617													6	5	---	---	---	---					
PROSER2	254427	broad.mit.edu	37	10	11894129	11894129	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr10:11894129delC	ENST00000277570.5	+	2	207	c.53delC	c.(52-54)tcfs	p.S18fs	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR	NM_153256.3	NP_694988.3			proline and serine-rich protein 2																		TCAGACACGTCCCCCAGCTGC	0.587													8	40	---	---	---	---					
PTPRO	5800	broad.mit.edu	37	12	15713185	15713185	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:15713185delC	ENST00000281171.4	+	17	3016	c.2686delC	c.(2686-2688)ttfs	p.L897fs	PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000445537.2_Frame_Shift_Del_p.L86fs|PTPRO_ENST00000442921.2_Frame_Shift_Del_p.L86fs|PTPRO_ENST00000348962.2_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	897						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GACTGATTATCTTTTGGCATT	0.318													55	44	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111748204	111748204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr12:111748204delG	ENST00000261726.6	+	15	1772	c.1618delG	c.(1618-1620)ggfs	p.G542fs		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	542						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						GGATGGTGGTGGGGGCGGAGC	0.711													9	33	---	---	---	---					
PRKD1	5587	broad.mit.edu	37	14	30396583	30396583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:30396583delC	ENST00000331968.5	-	1	365	c.136delG	c.(136-138)tcfs	p.V46fs	PRKD1_ENST00000415220.2_Frame_Shift_Del_p.V46fs	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	46					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)		ATGCCCCCGACCGGGGCCGCG	0.751													11	10	---	---	---	---					
KTN1	3895	broad.mit.edu	37	14	56116524	56116526	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr14:56116524_56116526delAAG	ENST00000416613.1	+	21	2470_2472	c.2398_2400delAAG	c.(2398-2400)del	p.K801del	KTN1_ENST00000395308.1_In_Frame_Del_p.K801del|KTN1_ENST00000395311.1_In_Frame_Del_p.K801del|KTN1_ENST00000554507.1_In_Frame_Del_p.K96del|KTN1_ENST00000438792.2_In_Frame_Del_p.K801del|KTN1_ENST00000395314.3_In_Frame_Del_p.K801del|KTN1_ENST00000395309.3_In_Frame_Del_p.K801del|KTN1_ENST00000413890.2_In_Frame_Del_p.K801del			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	801					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TGAAGAACTTAAGAAAGTGTAAG	0.315			T	RET	papillary thryoid								8	76	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077784	32077784	+	RNA	DEL	G	G	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr16:32077784delG	ENST00000566806.1	-	0	499																											GCTGTCTCCAGGGCAGGTGCA	0.587													10	50	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578474	7578474	+	Frame_Shift_Del	DEL	C	C	-	rs137852790		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:7578474delC	ENST00000420246.2	-	5	588	c.456delG	c.(454-456)ccfs	p.P153fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P153fs*28(9)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P153fs*16(1)|p.P151_V173del23(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGGTGCCGGGCGGGGGTGTGG	0.612		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)			31	26	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													4	8	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60345227	60345227	+	RNA	DEL	C	C	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr17:60345227delC	ENST00000581291.1	-	0	846																				breast(2)|kidney(1)|lung(2)	5						TGGGCGGTGTCCAGAGCTCCC	0.627													9	26	---	---	---	---					
ZNF728	388523	broad.mit.edu	37	19	23158509	23158509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr19:23158509delC	ENST00000594710.1	-	4	1775	c.1630delG	c.(1630-1632)ccfs	p.A544fs		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CAGATGAAGGCTTTGCCACAT	0.398													13	19	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	RNA	INS	-	-	T	rs149794923	by1000genomes	TCGA-55-5899-01A-11D-1625-08	TCGA-55-5899-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddaf36f7-7503-4ab4-b7f5-9777c0c1518c	dc4e5547-75ee-4ef7-9657-998b1df44128	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332					NR_046099.1																						ggaccgggaaacagatgcttac	0.569													3	4	---	---	---	---					
