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
ACTN2	88	broad.mit.edu	37	1	236925911	236925911	+	Missense_Mutation	SNP	G	G	T	rs142646143		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:236925911G>T	ENST00000366578.4	+	21	2843	c.2677G>T	c.(2677-2679)Gat>Tat	p.D893Y	ACTN2_ENST00000546208.1_Missense_Mutation_p.D387Y|ACTN2_ENST00000542672.1_Missense_Mutation_p.D893Y	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	893					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.D893Y(2)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGGGGAGAGCGATCTGTGATG	0.507000													17	14					1.5739e-10	1.93116e-10	0.004007	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33549428	33549428	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:33549428C>A	ENST00000504830.1	-	21	4521	c.4186G>T	c.(4186-4188)Gac>Tac	p.D1396Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D1311Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1396	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D1396Y(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						TTCCGGTGGTCCCGGCTGTCC	0.567000										HNSCC(64;0.19)			69	83					3.41413e-29	5.09572e-29	0.014410	1	0
OR10K1	391109	broad.mit.edu	37	1	158436195	158436195	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:158436195A>T	ENST00000289451.2	+	1	924	c.844A>T	c.(844-846)Acc>Tcc	p.T282S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T282S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CACCATCCTTACCCCATTGTT	0.388000													63	67					0	0	0.014410	0	0
MUC17	140453	broad.mit.edu	37	7	100680675	100680675	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:100680675G>C	ENST00000306151.4	+	3	6042	c.5978G>C	c.(5977-5979)aGc>aCc	p.S1993T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1993	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1993T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGCCTCTCAGCACCACGCTG	0.507000													148	276					0	0	0.014410	0	0
KDM3B	51780	broad.mit.edu	37	5	137727539	137727539	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:137727539A>T	ENST00000314358.5	+	8	2418	c.2218A>T	c.(2218-2220)Act>Tct	p.T740S	KDM3B_ENST00000394866.1_Missense_Mutation_p.T396S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	740	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T740S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGAGATGCCAACTCTCTCCTC	0.612000													43	114					0	0	0.008740	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237382	140237382	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:140237382G>A	ENST00000307360.5	+	1	1749	c.1749G>A	c.(1747-1749)tcG>tcA	p.S583S	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.S583S(1)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCGGTCGGTGGTTGCGG	0.657000													5	74					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179593685	179593685	+	Silent	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:179593685C>A	ENST00000589042.1	-	65	19304	c.19080G>T	c.(19078-19080)ggG>ggT	p.G6360G	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.G6043G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G5116G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6043	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G5116V(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)			AGGTATATCTCCCACTGTGTC	0.383000													15	29					6.72482e-11	8.30225e-11	0.003163	1	0
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:32147865C>T	ENST00000427134.2	+	5	422	c.407C>T	c.(406-408)aCc>aTc	p.T136I	RNF5_ENST00000375094.3_Missense_Mutation_p.T136I			Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557000													6	203					0	0	0.001168	0	0
USP9X	8239	broad.mit.edu	37	X	41088852	41088852	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:41088852G>T	ENST00000324545.7	+	43	7884	c.7251G>T	c.(7249-7251)tgG>tgT	p.W2417C	USP9X_ENST00000378308.2_Missense_Mutation_p.W2417C	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2417					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.W2410C(1)|p.W2417C(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGTGGACCTGGGCAGTGGAAT	0.383000													27	17					9.80776e-20	1.38137e-19	0.006320	1	0
ZNF28	7576	broad.mit.edu	37	19	53304727	53304727	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:53304727C>T	ENST00000438150.2	-	2	1105	c.212G>A	c.(211-213)gGc>gAc	p.G71D	ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000360272.4_Missense_Mutation_p.G71D|ZNF28_ENST00000339844.6_3'UTR|ZNF28_ENST00000457749.2_Missense_Mutation_p.G124D|ZNF28_ENST00000414252.2_Missense_Mutation_p.G71D			P17035	ZNF28_HUMAN	zinc finger protein 28	124	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G71D(2)|p.G124D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATCATGTTGGCCTGTACTACC	0.418000													84	262					0	0	0.014410	0	0
SPIN3	169981	broad.mit.edu	37	X	57020669	57020669	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:57020669C>G	ENST00000374919.3	-	2	1034	c.712G>C	c.(712-714)Gtg>Ctg	p.V238L		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	238					gamete generation			p.V238L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						ATGAAGTACACAGAGGGTTTT	0.403000													36	21					0	0	0.003755	0	0
ZNF253	56242	broad.mit.edu	37	19	19989390	19989390	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:19989390A>C	ENST00000589717.1	+	2	196	c.104A>C	c.(103-105)gAg>gCg	p.E35A	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	35	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E35A(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGATGTTAGAGAACTACAGA	0.378000													23	84					0	0	0.003330	0	0
KIDINS220	57498	broad.mit.edu	37	2	8873800	8873800	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:8873800A>G	ENST00000256707.3	-	29	4008	c.3827T>C	c.(3826-3828)aTg>aCg	p.M1276T	KIDINS220_ENST00000418530.1_Missense_Mutation_p.M1177T|KIDINS220_ENST00000473731.1_Missense_Mutation_p.M1257T|KIDINS220_ENST00000427284.1_Missense_Mutation_p.M1257T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1276					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.M1276T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCGTTTCTCATTTCTAGTAC	0.433000													14	43					0	0	0.002450	0	0
ATP1A2	477	broad.mit.edu	37	1	160093794	160093794	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:160093794A>T	ENST00000361216.3	+	5	532	c.443A>T	c.(442-444)cAg>cTg	p.Q148L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q148L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	148					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.Q148L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTACTACCAGGAGGCCAAG	0.532000													16	85					0	0	0.007413	0	0
OR4K1	79544	broad.mit.edu	37	14	20404276	20404276	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:20404276G>T	ENST00000285600.4	+	1	510	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V151L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTCCTGGGCGGTGGGCGTTCT	0.458000													47	100					2.47872e-24	3.65863e-24	0.010771	1	0
IGHV2-70	28454	broad.mit.edu	37	14	107179223	107179223	+	RNA	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:107179223G>T	ENST00000390634.2	-	0	115																											TCACAGGACGGGACAGTCAGT	0.507000													10	37					1.76689e-08	2.04857e-08	0.006214	1	0
UBE2J1	51465	broad.mit.edu	37	6	90045059	90045059	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:90045059G>T	ENST00000435041.2	-	6	798	c.520C>A	c.(520-522)Caa>Aaa	p.Q174K		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	174						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.Q174K(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TTGGCTTCTTGGTCAGCTTGG	0.398000													24	38					1.42536e-11	1.78728e-11	0.004656	1	0
HDAC2	3066	broad.mit.edu	37	6	114264527	114264527	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:114264527C>T	ENST00000519065.1	-	12	1742	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N	HDAC2_ENST00000398283.2_Missense_Mutation_p.D550N|HDAC2_ENST00000368632.2_Missense_Mutation_p.D426N|HDAC2_ENST00000519108.1_Missense_Mutation_p.D426N			Q92769	HDAC2_HUMAN	histone deacetylase 2	456					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.D456N(1)|p.D550N(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	Gtttttttgtcctctgtttct	0.338000													16	18					0	0	0.004007	0	0
BLMH	642	broad.mit.edu	37	17	28576109	28576109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:28576109C>A	ENST00000261714.6	-	12	1468	c.1294G>T	c.(1294-1296)Gag>Tag	p.E432*	BLMH_ENST00000394819.3_Nonsense_Mutation_p.E345*|RP11-354P11.2_ENST00000577420.1_RNA	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	432					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	p.E432*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GCTAGCACCTCTTCAGGGACA	0.512000													16	66					3.52763e-06	3.94149e-06	0.004990	1	0
NFASC	23114	broad.mit.edu	37	1	204943311	204943311	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:204943311G>T	ENST00000367172.4	+	13	1612	c.1284G>T	c.(1282-1284)gtG>gtT	p.V428V	NFASC_ENST00000339876.6_Silent_p.V428V|NFASC_ENST00000539706.1_Silent_p.V439V|NFASC_ENST00000513543.1_Silent_p.V439V|NFASC_ENST00000403080.1_Silent_p.V428V|NFASC_ENST00000404907.1_Silent_p.V439V|NFASC_ENST00000367171.4_Silent_p.V428V|NFASC_ENST00000338515.6_Silent_p.V428V|NFASC_ENST00000404076.1_Silent_p.V422V|NFASC_ENST00000401399.1_Silent_p.V428V|NFASC_ENST00000360049.4_Silent_p.V439V|NFASC_ENST00000338586.6_Silent_p.V428V|NFASC_ENST00000367169.4_Silent_p.V428V|NFASC_ENST00000367170.4_Silent_p.V428V			O94856	NFASC_HUMAN	neurofascin	428					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.V428V(2)|p.V439V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTTCAGATGTGCCGCCTCGGA	0.557000													13	12					7.03913e-09	8.28133e-09	0.013537	1	0
NOS1	4842	broad.mit.edu	37	12	117715889	117715889	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:117715889C>G	ENST00000317775.6	-	9	2224	c.1539G>C	c.(1537-1539)caG>caC	p.Q513H	NOS1_ENST00000338101.4_Missense_Mutation_p.Q513H|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	513					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.Q513H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTTTCCAGCCCTGCTGTATGC	0.587000													25	33					0	0	0.002780	0	0
KIF4B	285643	broad.mit.edu	37	5	154394083	154394083	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:154394083C>A	ENST00000435029.4	+	1	824	c.664C>A	c.(664-666)Caa>Aaa	p.Q222K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	222	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.Q222K(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCATAGAGCAAAGAAAGAA	0.478000													19	66					1.33834e-09	1.59326e-09	0.007413	1	0
CACNA1D	776	broad.mit.edu	37	3	53760942	53760942	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:53760942G>T	ENST00000288139.3	+	16	2315	c.2197G>T	c.(2197-2199)Gat>Tat	p.D733Y	CACNA1D_ENST00000422281.2_Missense_Mutation_p.D713Y|CACNA1D_ENST00000350061.5_Missense_Mutation_p.D713Y	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	713					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D733Y(1)|p.D733N(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGTGATGTACGATGGCATCAT	0.498000													23	133					6.21321e-17	8.56995e-17	0.002780	1	0
CCT3	7203	broad.mit.edu	37	1	156307972	156307972	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:156307972T>C	ENST00000295688.3	-	1	284	c.4A>G	c.(4-6)Atg>Gtg	p.M2V	CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.M2V|CCT3_ENST00000368261.3_5'UTR|TSACC_ENST00000368255.3_Intron|CCT3_ENST00000472765.2_5'UTR	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	2					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	p.M2V(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CGATGGCCCATCATGGCGACG	0.587000													3	17					0	0	0.009096	0	0
IGSF10	285313	broad.mit.edu	37	3	151176394	151176394	+	Missense_Mutation	SNP	C	C	A	rs138815446		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:151176394C>A	ENST00000282466.3	-	1	103	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	35	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.C35F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGCATATAACAGGCACAGCG	0.557000													19	33					3.99206e-14	5.25271e-14	0.007413	1	0
CHD5	26038	broad.mit.edu	37	1	6169915	6169915	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:6169915G>T	ENST00000262450.3	-	38	5617	c.5518C>A	c.(5518-5520)Cag>Aag	p.Q1840K	CHD5_ENST00000378021.1_Missense_Mutation_p.Q697K	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1840					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.Q1840K(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GACAGGTGCTGGTGGCTCTCG	0.682000													52	101					2.01872e-29	3.02429e-29	0.014410	1	0
CDH8	1006	broad.mit.edu	37	16	61761041	61761041	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:61761041G>C	ENST00000577390.1	-	9	2447	c.1493C>G	c.(1492-1494)tCc>tGc	p.S498C	CDH8_ENST00000299345.6_Missense_Mutation_p.S498C|CDH8_ENST00000584337.1_Missense_Mutation_p.S498C|CDH8_ENST00000577730.1_Missense_Mutation_p.S498C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S498C(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTCATATTCGGATGCGAATTC	0.383000													28	94					0	0	0.006320	0	0
KCNH7	90134	broad.mit.edu	37	2	163302909	163302909	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:163302909C>T	ENST00000332142.5	-	7	1272	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KCNH7_ENST00000328032.4_Silent_p.Q384Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	391					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.Q391Q(1)|p.Q384Q(1)		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)	TGCGTGGTGTCTGCAGTTTGT	0.398000													15	32					0	0	0.003163	0	0
OR6N2	81442	broad.mit.edu	37	1	158746817	158746817	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:158746817A>T	ENST00000339258.1	-	1	608	c.609T>A	c.(607-609)aaT>aaA	p.N203K		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N203K(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTATGAAAGCATTAATGGCAA	0.393000													22	19					0	0	0.012319	0	0
ACSL1	2180	broad.mit.edu	37	4	185678833	185678833	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:185678833T>C	ENST00000515030.1	-	20	2237	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	ACSL1_ENST00000513317.1_Missense_Mutation_p.M638V|ACSL1_ENST00000507295.1_Missense_Mutation_p.M604V|ACSL1_ENST00000454703.2_Missense_Mutation_p.M467V|ACSL1_ENST00000437665.3_Missense_Mutation_p.M467V|ACSL1_ENST00000504342.1_Missense_Mutation_p.M638V|ACSL1_ENST00000281455.2_Missense_Mutation_p.M638V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	638					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.M638V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGTCTCACCATATCTTCGAGG	0.368000													97	92					0	0	0.014410	0	0
CDYL2	124359	broad.mit.edu	37	16	80718806	80718806	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:80718806C>G	ENST00000299564.8	-	2	400	c.245G>C	c.(244-246)cGa>cCa	p.R82P	CDYL2_ENST00000566173.1_Missense_Mutation_p.R82P|CDYL2_ENST00000563890.1_Missense_Mutation_p.R82P|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.R82P	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	82						nucleus	catalytic activity|protein binding	p.R82P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGACGGGCCTCGACTGTCACG	0.527000													8	65					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179443697	179443697	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:179443697A>T	ENST00000589042.1	-	320	68284	c.68060T>A	c.(68059-68061)gTg>gAg	p.V22687E	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V13747E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V21046E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13622E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V13814E|TTN_ENST00000342992.6_Missense_Mutation_p.V20119E|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21046	Fibronectin type-III 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V20119E(1)|p.V13747E(1)|p.V13814E(1)|p.V13622E(1)|p.V20117E(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)			CTTGTTGTTCACAGAATCCCT	0.483000													29	51					0	0	0.005443	0	0
LILRA1	11024	broad.mit.edu	37	19	55107955	55107955	+	Splice_Site	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:55107955A>G	ENST00000251372.3	+	7	1442	c.1261_splice	c.e7+1	p.S420_splice	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	420					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.S420S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCATGGTCTCAGGTGAGGGCC	0.617000													49	64					0	0	0.014410	0	0
SYDE2	84144	broad.mit.edu	37	1	85647781	85647781	+	Splice_Site	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:85647781C>G	ENST00000341460.5	-	3	2593	c.2544_splice	c.e3+1	p.Q848_splice		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	848	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.Q848H(1)|p.Q770H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AAGATAATACCTGACAGCCTC	0.323000													3	31					0	0	0.009096	0	0
LAMB4	22798	broad.mit.edu	37	7	107703285	107703285	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:107703285G>T	ENST00000388781.3	-	23	3299	c.3216C>A	c.(3214-3216)gtC>gtA	p.V1072V	LAMB4_ENST00000388780.3_Silent_p.V1072V|LAMB4_ENST00000205386.4_Silent_p.V1072V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1072	Laminin EGF-like 11.				cell adhesion	basement membrane		p.V1072V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTCTGCCAGGGACCAGATTCC	0.522000													9	33					1.12685e-05	1.25206e-05	0.004482	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28734290	28734290	+	RNA	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:28734290G>T	ENST00000550043.1	+	0	695																											GCTGGCCATCGGATTGGGGAT	0.468000													14	30					6.31663e-08	7.219e-08	0.003163	1	0
SLC20A1	6574	broad.mit.edu	37	2	113420521	113420521	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:113420521C>T	ENST00000272542.3	+	11	2498	c.1959C>T	c.(1957-1959)gcC>gcT	p.A653A		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	653					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	p.A653A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTTTTATGGCCTGGTTTGTCA	0.463000													41	94					0	0	0.013114	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68208794	68208794	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:68208794C>A	ENST00000262215.3	-	5	900	c.511G>T	c.(511-513)Gta>Tta	p.V171L		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	171					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.V171L(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTTGCAGTACAGTCCCTTCA	0.333000													24	62					1.10923e-09	1.33642e-09	0.002780	1	0
IFNA4	3441	broad.mit.edu	37	9	21187301	21187301	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:21187301A>T	ENST00000421715.1	-	1	297	c.230T>A	c.(229-231)aTc>aAc	p.I77N		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	77					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.I77N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGGACAGAGATGGCTTGAGC	0.493000													10	229					0	0	0.013537	0	0
F2R	2149	broad.mit.edu	37	5	76029084	76029084	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:76029084C>A	ENST00000319211.4	+	2	1299	c.1034C>A	c.(1033-1035)aCc>aAc	p.T345N		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	345					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	p.T345N(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CACACTTCCACCACAGAGGCT	0.493000													32	91					2.81731e-10	3.43575e-10	0.010818	1	0
RTN4IP1	84816	broad.mit.edu	37	6	107035708	107035708	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:107035708C>A	ENST00000369063.3	-	7	1301	c.836G>T	c.(835-837)gGa>gTa	p.G279V	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	279						mitochondrion	oxidoreductase activity|zinc ion binding	p.G279V(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTCAGTGGATCCGCCAACATT	0.463000													16	14					1.15088e-07	1.30782e-07	0.004007	1	0
SYT3	84258	broad.mit.edu	37	19	51128750	51128750	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:51128750T>A	ENST00000338916.4	-	6	2107	c.1474A>T	c.(1474-1476)Aac>Tac	p.N492Y	SYT3_ENST00000600079.1_Missense_Mutation_p.N492Y|SYT3_ENST00000593901.1_Missense_Mutation_p.N492Y|SYT3_ENST00000544769.1_Missense_Mutation_p.N492Y	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	492	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.N492Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTCAGCGTGTTCTTCTTGATG	0.582000													11	16					0	0	0.010729	0	0
EGFLAM	133584	broad.mit.edu	37	5	38448410	38448410	+	Silent	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:38448410A>T	ENST00000322350.5	+	18	2818	c.2472A>T	c.(2470-2472)atA>atT	p.I824I	EGFLAM_ENST00000354891.3_Silent_p.I832I|EGFLAM_ENST00000397202.2_Silent_p.I190I|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.I590I|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000506135.1_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	832						cell junction|proteinaceous extracellular matrix|synapse		p.I832I(1)|p.I824I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGCGATCATAGAAGCCATTG	0.483000													50	205					0	0	0.014410	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647260	38647260	+	RNA	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr10:38647260G>C	ENST00000494540.1	+	0	131					NR_003086.1																						CTGGCCCTCTGCAAGCGGCTG	0.537000													9	12					0	0	0.006214	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117038152	117038152	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:117038152G>T	ENST00000527958.1	+	6	586	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000530272.1_Intron|PAFAH1B2_ENST00000419197.2_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	143					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity	p.G143C(1)		kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GTTACCTCGAGGTGAGAAACC	0.433000			T	IGH@	MLCLS								29	26					1.06801e-11	1.35191e-11	0.009535	1	0
PRR23C	389152	broad.mit.edu	37	3	138763205	138763205	+	Silent	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:138763205C>G	ENST00000413199.1	-	1	529	c.258G>C	c.(256-258)tcG>tcC	p.S86S	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.S86S	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	86								p.S86S(1)		breast(2)|lung(7)|skin(2)	11						CTCGCAGGACCGACATTGGCG	0.667000													2	4					0	0	0.004672	0	0
CNKSR2	22866	broad.mit.edu	37	X	21624935	21624935	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:21624935C>T	ENST00000425654.2	+	18	2473	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S	CNKSR2_ENST00000543067.1_Missense_Mutation_p.P646S|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P695S|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P695S	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	695	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.P695S(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGCAGATACTCCATCAACACC	0.413000													24	18					0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9087924	9087924	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:9087924C>A	ENST00000397910.4	-	1	4094	c.3891G>T	c.(3889-3891)atG>atT	p.M1297I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1297	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M1297I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTAAGCCATTCTGGCTG	0.493000													101	76					3.39216e-54	5.23886e-54	0.014410	1	0
OXSR1	9943	broad.mit.edu	37	3	38287589	38287589	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:38287589G>T	ENST00000311806.3	+	13	1506	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V	OXSR1_ENST00000446845.1_Silent_p.V378V	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	378					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.V378V(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGATCCTGTGGGTACTTTGC	0.502000													46	52					2.01872e-29	3.02429e-29	0.014410	1	0
IREB2	3658	broad.mit.edu	37	15	78730689	78730689	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:78730689C>A	ENST00000258886.8	+	1	159	c.10C>A	c.(10-12)Cca>Aca	p.P4T	IREB2_ENST00000560440.1_Missense_Mutation_p.P4T	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	4							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.P4T(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GATGGACGCCCCAAAAGCAGG	0.657000													3	11					0.004672	0.00487937	0.004672	1	0
AKT2	208	broad.mit.edu	37	19	40740980	40740980	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:40740980C>A	ENST00000392038.2	-	13	1636	c.1338G>T	c.(1336-1338)caG>caT	p.Q446H	AKT2_ENST00000311278.6_Missense_Mutation_p.Q403H|AKT2_ENST00000579047.1_Missense_Mutation_p.Q384H|AKT2_ENST00000424901.1_Missense_Mutation_p.Q446H	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	446	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q446H(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTGTGATGGACTGGGCGGTAA	0.607000			A		"""ovarian, pancreatic """								11	57					3.86212e-05	4.2209e-05	0.008291	1	0
ROS1	6098	broad.mit.edu	37	6	117629963	117629963	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:117629963T>C	ENST00000368508.3	-	41	6761	c.6563A>G	c.(6562-6564)gAt>gGt	p.D2188G	ROS1_ENST00000368507.3_Missense_Mutation_p.D2182G	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2188	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D2188G(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTACAGATCATCAGGACAATT	0.368000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								23	16					0	0	0.003954	0	0
FSHR	2492	broad.mit.edu	37	2	49210068	49210068	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:49210068G>T	ENST00000406846.2	-	8	770	c.651C>A	c.(649-651)gcC>gcA	p.A217A	FSHR_ENST00000304421.4_Silent_p.A191A|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Silent_p.A217A|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	217					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.A217A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CTGGTCCAGAGGCTCCGTGGA	0.433000									Gonadal Dysgenesis, 46 XX				7	32					0.000274275	0.000294129	0.004482	1	0
NPHS1	4868	broad.mit.edu	37	19	36336695	36336695	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:36336695G>C	ENST00000378910.5	-	13	1632	c.1633C>G	c.(1633-1635)Cca>Gca	p.P545A	NPHS1_ENST00000353632.6_Missense_Mutation_p.P545A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	545	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.P545A(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACGTTAGTTGGGGGAACTGGG	0.652000													6	40					0	0	0.004482	0	0
PEX2	5828	broad.mit.edu	37	8	77895569	77895569	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:77895569C>A	ENST00000419564.2	-	4	1310	c.846G>T	c.(844-846)aaG>aaT	p.K282N	PEX2_ENST00000357039.4_Missense_Mutation_p.K282N|PEX2_ENST00000520103.1_Missense_Mutation_p.K282N|PEX2_ENST00000522527.1_Missense_Mutation_p.K282N	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	282					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	p.K282N(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CTGTGCCACACTTAGGACAAG	0.403000													56	132					6.4308e-24	9.45706e-24	0.014410	1	0
KCNA1	3736	broad.mit.edu	37	12	5020916	5020916	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:5020916G>A	ENST00000382545.3	+	2	1479	c.372G>A	c.(370-372)gaG>gaA	p.E124E	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	124					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.E124E(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTTGGGCGAGGAGGCCATGG	0.627000													18	48					0	0	0.004990	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460608	110460608	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:110460608A>T	ENST00000378402.5	+	39	6117	c.6013A>T	c.(6013-6015)Aat>Tat	p.N2005Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2005	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.N2007Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCAAAATATTAATCCAAGCCA	0.348000										HNSCC(38;0.096)			14	21					0	0	0.001855	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684773	46684773	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:46684773G>A	ENST00000274793.7	-	3	366	c.170C>T	c.(169-171)cCc>cTc	p.P57L	PLA2G7_ENST00000537365.1_Missense_Mutation_p.P57L|PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Missense_Mutation_p.P12L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	57					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	p.P57L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATTTCCCCGGGGGATTTTAGT	0.373000													26	94					0	0	0.004656	0	0
CLPX	10845	broad.mit.edu	37	15	65447222	65447222	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:65447222C>T	ENST00000300107.3	-	11	1697	c.1509G>A	c.(1507-1509)gtG>gtA	p.V503V		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	503					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	p.V503V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCAATGGAACCACCACAGGCA	0.428000													28	67					0	0	0.005443	0	0
HPS4	89781	broad.mit.edu	37	22	26859974	26859974	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr22:26859974A>T	ENST00000398145.2	-	11	2238	c.1622T>A	c.(1621-1623)aTg>aAg	p.M541K	HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Missense_Mutation_p.M554K|HPS4_ENST00000402105.3_Missense_Mutation_p.M536K|HPS4_ENST00000336873.5_Missense_Mutation_p.M541K	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	541					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.M541K(1)|p.M554K(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GTAGAGATTCATCCTCACGAG	0.597000									Hermansky-Pudlak syndrome				11	36					0	0	0.010729	0	0
TLR6	10333	broad.mit.edu	37	4	38829311	38829311	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:38829311A>C	ENST00000436693.2	-	2	1903	c.1784T>G	c.(1783-1785)aTg>aGg	p.M595R	TLR6_ENST00000381950.1_Missense_Mutation_p.M595R	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	595					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.M595R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAACACCAGCATGGTGGCACC	0.532000													11	91					0	0	0.001855	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000177	52000177	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:52000177G>T	ENST00000291707.3	-	7	1611	c.1556C>A	c.(1555-1557)aCa>aAa	p.T519K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T401K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	519					cell adhesion	integral to membrane	sugar binding	p.T519K(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCATGCCTGTATCCCCCAC	0.592000													36	59					2.87052e-16	3.94573e-16	0.005524	1	0
VPS28	51160	broad.mit.edu	37	8	145651592	145651592	+	Splice_Site	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:145651592C>A	ENST00000377348.2	-	3	127		c.e3-1		VPS28_ENST00000526734.1_Splice_Site|VPS28_ENST00000526054.1_Splice_Site|VPS28_ENST00000529182.1_Splice_Site|VPS28_ENST00000292510.4_Splice_Site	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	p.?(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TTCCCAGGGGCTGCAAGAGAA	0.632000													12	9					4.14922e-12	5.31951e-12	0.004007	1	0
MMP13	4322	broad.mit.edu	37	11	102825237	102825237	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:102825237G>T	ENST00000260302.3	-	3	489	c.461C>A	c.(460-462)aCc>aAc	p.T154N	MMP13_ENST00000340273.4_Missense_Mutation_p.T154N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	154					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.T154N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTGAAGTCTGGTAAAATTCAG	0.348000													25	41					1.42536e-11	1.78728e-11	0.004656	1	0
KRT72	140807	broad.mit.edu	37	12	52986255	52986255	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:52986255C>A	ENST00000293745.2	-	4	808	c.723G>T	c.(721-723)atG>atT	p.M241I	KRT72_ENST00000537672.2_Missense_Mutation_p.M241I|KRT72_ENST00000354310.4_Missense_Mutation_p.M241I|KRT72_ENST00000398066.3_Missense_Mutation_p.M53I	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	241	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.M241I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CAACCTTATTCATGTAAGCAG	0.542000													27	41					7.26314e-15	9.71658e-15	0.007291	1	0
ZCCHC2	54877	broad.mit.edu	37	18	60241328	60241328	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr18:60241328A>G	ENST00000269499.5	+	13	2432	c.2014A>G	c.(2014-2016)Aca>Gca	p.T672A	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.T351A	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	672					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.T672A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAATCCATCAACAACTAGGTT	0.398000													33	84					0	0	0.009535	0	0
CORO2B	10391	broad.mit.edu	37	15	69006317	69006317	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:69006317G>T	ENST00000543950.1	+	6	1041	c.687G>T	c.(685-687)atG>atT	p.M229I	CORO2B_ENST00000566799.1_Missense_Mutation_p.M234I|CORO2B_ENST00000540068.1_Missense_Mutation_p.M229I|CORO2B_ENST00000261861.5_Missense_Mutation_p.M229I	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	234					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.M234I(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGGAACATGAAGCGGCTCC	0.597000													21	22					2.4624e-09	2.92273e-09	0.008871	1	0
ZC3H13	23091	broad.mit.edu	37	13	46543169	46543169	+	Silent	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr13:46543169C>A	ENST00000242848.4	-	14	3858	c.3510G>T	c.(3508-3510)acG>acT	p.T1170T	ZC3H13_ENST00000378921.2_Silent_p.T126T|ZC3H13_ENST00000282007.3_Silent_p.T1170T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1170							nucleic acid binding|zinc ion binding	p.T1170T(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCACGTGAGGCGTCTCTACTT	0.483000													73	75					3.4779e-39	5.33011e-39	0.014410	1	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs114905475	by1000genomes	TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1																						TGGGTCTTTGCAGGATACACA	0.488000													3	1					0.00448238	0.00469359	0.004482	1	0
LRRTM3	347731	broad.mit.edu	37	10	68688212	68688212	+	Splice_Site	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr10:68688212T>C	ENST00000361320.4	+	2	2114		c.e2+2		CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3							integral to membrane		p.?(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GAGTGTGAGGTATGAACCATT	0.493000													17	33					0	0	0.004007	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360514	129360514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:129360514G>T	ENST00000442111.2	+	2	212	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.E31*|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.E42*			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	42					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.E42*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTTTGACTTTGAAAGCCGATC	0.488000													22	238					1.10513e-12	1.43524e-12	0.014323	1	0
LELP1	149018	broad.mit.edu	37	1	153177438	153177438	+	Silent	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:153177438C>G	ENST00000368747.1	+	2	365	c.255C>G	c.(253-255)tcC>tcG	p.S85S		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	85	Cys/Pro-rich.							p.S85S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCTTCATCCTGCCCACATG	0.642000													7	41					0	0	0.001984	0	0
ACTC1	70	broad.mit.edu	37	15	35086936	35086936	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:35086936C>A	ENST00000290378.4	-	2	729	c.74G>T	c.(73-75)gGc>gTc	p.G25V	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	25					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.G25V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CGCGTCATCGCCCGCAAAGCC	0.687000													33	43					3.03874e-20	4.32561e-20	0.003271	1	0
SKIL	6498	broad.mit.edu	37	3	170108188	170108188	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:170108188G>T	ENST00000458537.3	+	4	2316	c.1607G>T	c.(1606-1608)aGa>aTa	p.R536I	SKIL_ENST00000413427.2_Missense_Mutation_p.R490I|SKIL_ENST00000426052.2_Missense_Mutation_p.R516I|SKIL_ENST00000259119.4_Missense_Mutation_p.R536I	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	536					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.R536I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GAAGTAATGAGAACTTATTTA	0.343000													13	30					1.5842e-08	1.84209e-08	0.001855	1	0
ZDHHC19	131540	broad.mit.edu	37	3	195937568	195937568	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:195937568C>A	ENST00000296326.3	-	2	266	c.187G>T	c.(187-189)Gtt>Ttt	p.V63F	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	63						integral to membrane	acyltransferase activity|zinc ion binding	p.V63F(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CCTGTGATAACAGGAAAGGCC	0.587000													6	25					3.59834e-05	3.94338e-05	0.001168	1	0
KIAA1551	55196	broad.mit.edu	37	12	32134697	32134697	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:32134697G>A	ENST00000312561.4	+	4	1222	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.A270T(1)									ACAGCAGTATGCCACGCAAAC	0.398000													52	66					0	0	0.014410	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749242	25749242	+	RNA	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:25749242G>T	ENST00000586223.1	+	0	1143					NR_033892.1																						GAACATTCAGGAAATCAAGAT	0.493000													25	25					2.44723e-14	3.24137e-14	0.004656	1	0
CAPN2	824	broad.mit.edu	37	1	223959907	223959907	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:223959907A>G	ENST00000295006.5	+	20	2354	c.2045A>G	c.(2044-2046)gAg>gGg	p.E682G	CAPN2_ENST00000433674.2_Missense_Mutation_p.E604G|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	682	Domain IV.|EF-hand 3.				proteolysis	cytoplasm|plasma membrane		p.E682G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CTGGATCCCGAGAATACTGGA	0.502000													64	70					0	0	0.014410	0	0
MROH2B	133558	broad.mit.edu	37	5	41055876	41055876	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:41055876A>T	ENST00000399564.4	-	10	1451	c.1001T>A	c.(1000-1002)tTg>tAg	p.L334*	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L334*(1)									TAACAAAGTCAAGATTCCCAC	0.423000													4	160					0	0	0.000602	0	0
MERTK	10461	broad.mit.edu	37	2	112767591	112767591	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:112767591A>G	ENST00000295408.4	+	15	2284	c.2027A>G	c.(2026-2028)tAc>tGc	p.Y676C	MERTK_ENST00000421804.2_Missense_Mutation_p.Y676C|MERTK_ENST00000409780.1_Missense_Mutation_p.Y500C			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	676	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Y676C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTCATGAAATACGGGGACCTG	0.423000													48	103					0	0	0.014410	0	0
GRIP1	23426	broad.mit.edu	37	12	66788002	66788002	+	Silent	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:66788002C>G	ENST00000359742.4	-	17	2355	c.2115G>C	c.(2113-2115)ggG>ggC	p.G705G	GRIP1_ENST00000286445.7_Silent_p.G705G|GRIP1_ENST00000398016.3_Silent_p.G653G			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	705	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.G653G(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAGCTAATCCCCCTTTAGTGA	0.448000													6	538					0	0	0.001984	0	0
SYT10	341359	broad.mit.edu	37	12	33560221	33560221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:33560221C>A	ENST00000228567.3	-	3	876	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.E13*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	194						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.E194*(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAAACAGGTTCTGTGCCCATG	0.448000													42	83					6.48837e-15	8.73854e-15	0.010771	1	0
CDH10	1008	broad.mit.edu	37	5	24488183	24488183	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:24488183G>T	ENST00000264463.4	-	12	2463	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	652					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D652E(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCACAATGTTGTCTCTGATAT	0.433000										HNSCC(23;0.051)			21	46					1.50039e-11	1.86965e-11	0.012319	1	0
TPR	7175	broad.mit.edu	37	1	186315293	186315293	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:186315293T>C	ENST00000367478.3	-	23	3366	c.3070A>G	c.(3070-3072)Aga>Gga	p.R1024G		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1024					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.R1024G(1)|p.R1025G(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTATGGCTCTTCTTTTATCA	0.328000			T	NTRK1	papillary thyroid								12	80					0	0	0.001855	0	0
DYTN	391475	broad.mit.edu	37	2	207527633	207527633	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:207527633G>A	ENST00000452335.2	-	11	1743	c.1627C>T	c.(1627-1629)Cca>Tca	p.P543S		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	543						plasma membrane	zinc ion binding	p.P543S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTACCTGATGGCGTTTCTAGA	0.418000													50	283					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179568920	179568920	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:179568920G>T	ENST00000589042.1	-	106	30401	c.30177C>A	c.(30175-30177)acC>acA	p.T10059T	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.T9742T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T8815T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9742	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T8815T(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)			CATATTTGCAGGTGTACTGAC	0.438000													28	177					7.68411e-24	1.12588e-23	0.008361	1	0
TRIM48	79097	broad.mit.edu	37	11	55032470	55032470	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:55032470G>T	ENST00000417545.2	+	2	225	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	31						intracellular	zinc ion binding	p.G47W(1)|p.G31W(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CATAGACTGTGGGCACAGCTT	0.473000													37	163					3.62531e-18	5.05269e-18	0.004289	1	0
ROCK2	9475	broad.mit.edu	37	2	11332366	11332366	+	Silent	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:11332366A>G	ENST00000315872.6	-	32	4519	c.4071T>C	c.(4069-4071)ccT>ccC	p.P1357P	ROCK2_ENST00000401753.1_Silent_p.P1114P	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1357					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.P1357P(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATCGGGCAAAAGGGTCTGGAG	0.433000													5	335					0	0	0.001168	0	0
NPAP1	23742	broad.mit.edu	37	15	24923531	24923531	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:24923531C>T	ENST00000329468.2	+	1	2991	c.2517C>T	c.(2515-2517)acC>acT	p.T839T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.T839T(1)									TGCAGTCTACCTTTGTCTCCA	0.502000													26	91					0	0	0.004656	0	0
ACKR3	57007	broad.mit.edu	37	2	237489646	237489646	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:237489646A>G	ENST00000272928.3	+	2	848	c.538A>G	c.(538-540)Acc>Gcc	p.T180A		NM_020311.2	NP_064707.1			atypical chemokine receptor 3									p.T180A(1)									TCTGCCTGACACCTACTACCT	0.582000													6	137					0	0	0.001984	0	0
SEPT10	151011	broad.mit.edu	37	2	110332300	110332300	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:110332300T>C	ENST00000356688.4	-	5	773	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	SEPT10_ENST00000415095.1_Missense_Mutation_p.Y153C|SEPT10_ENST00000334001.6_Missense_Mutation_p.Y20C|SEPT10_ENST00000397712.2_Missense_Mutation_p.Y153C|SEPT10_ENST00000397714.2_Missense_Mutation_p.Y130C|SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000437928.1_Missense_Mutation_p.Y138C			Q9P0V9	SEP10_HUMAN	septin 10	153					cell cycle|cell division	septin complex	GTP binding	p.Y153C(1)|p.Y130C(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TTCTTGGAGATAGGCCTCAAA	0.378000													41	59					0	0	0.008740	0	0
MDC1	9656	broad.mit.edu	37	6	30676135	30676135	+	Splice_Site	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:30676135C>A	ENST00000376406.3	-	8	2869		c.e8-1		MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1						cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.?(1)		breast(2)|kidney(1)|ovary(1)	4						TCTAGGGTACCTGgaagggga	0.512000								Other conserved DNA damage response genes					27	20					3.28513e-13	4.30836e-13	0.003954	1	0
SUMF1	285362	broad.mit.edu	37	3	4458925	4458925	+	Splice_Site	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:4458925G>C	ENST00000272902.5	-	6	762	c.725_splice	c.e6-1	p.L243_splice	SUMF1_ENST00000534863.1_Splice_Site_p.L243_splice|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Splice_Site_p.L218_splice|SUMF1_ENST00000405420.2_Splice_Site_p.L243_splice	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	243						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	p.L243V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CAGGGGAAAAGTCTGTCAGAA	0.498000													46	41					0	0	0.010771	0	0
OBSCN	84033	broad.mit.edu	37	1	228504513	228504513	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:228504513G>T	ENST00000570156.2	+	62	16334	c.16260G>T	c.(16258-16260)gaG>gaT	p.E5420D	OBSCN_ENST00000366709.4_Missense_Mutation_p.E1582D|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4463D|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4463D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2097D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4463	Ig-like 51.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E4463D(1)|p.E5175D(1)|p.E5045D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGTGGGAGAGGCGTCCTGGT	0.692000													5	19					0.000602214	0.000640654	0.000602	1	0
ZNF431	170959	broad.mit.edu	37	19	21366255	21366255	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:21366255G>T	ENST00000311048.7	+	5	1293	c.1149G>T	c.(1147-1149)tgG>tgT	p.W383C	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W383F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCTTTAATTGGTCCTCAACCC	0.343000													15	21					1.49906e-05	1.65186e-05	0.002450	1	0
ZFP91	80829	broad.mit.edu	37	11	58380279	58380279	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:58380279G>T	ENST00000316059.6	+	8	1124	c.953G>T	c.(952-954)tGt>tTt	p.C318F	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.C318F	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	318					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	p.C318F(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGAAGGATGTGGAACTGTC	0.408000													20	90					5.45024e-15	7.41529e-15	0.003330	1	0
ADA	100	broad.mit.edu	37	20	43249676	43249676	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr20:43249676C>T	ENST00000372874.4	-	10	1092	c.958G>A	c.(958-960)Gag>Aag	p.E320K	ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Missense_Mutation_p.E296K|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	320					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.E320K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TTAAACTCCTCTTCAGTAAAG	0.522000									Adenosine Deaminase Deficiency				70	44					0	0	0.014410	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299186	186299186	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:186299186G>A	ENST00000439351.1	+	6	1412	c.483G>A	c.(481-483)agG>agA	p.R161R	DNAJB11_ENST00000265028.3_Silent_p.R161R			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	161					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.R161R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTGTGGCAAGGCAGGCTCCTG	0.522000													25	87					0	0	0.003954	0	0
STAB2	55576	broad.mit.edu	37	12	104149163	104149163	+	Silent	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:104149163C>G	ENST00000388887.2	+	62	7002	c.6798C>G	c.(6796-6798)ggC>ggG	p.G2266G	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2266	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G2266G(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAACTGTGGCTCTGGTGTGG	0.572000													41	125					0	0	0.009718	0	0
ARID1A	8289	broad.mit.edu	37	1	27089625	27089625	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:27089625G>C	ENST00000324856.7	+	8	2952	c.2581G>C	c.(2581-2583)Gcc>Ccc	p.A861P	ARID1A_ENST00000457599.2_Missense_Mutation_p.A861P|ARID1A_ENST00000374152.2_Missense_Mutation_p.A478P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	861					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.A861P(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGAGTCACGCCTCCATGGG	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	50					0	0	0.003163	0	0
TTC17	55761	broad.mit.edu	37	11	43511885	43511885	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:43511885C>T	ENST00000039989.4	+	22	3141	c.3127C>T	c.(3127-3129)Cac>Tac	p.H1043Y		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1043							binding	p.H1043Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CCAGGCTCTGCACTATGCGCC	0.562000													21	57					0	0	0.010504	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166206	140166206	+	Missense_Mutation	SNP	G	G	A	rs148838866		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:140166206G>A	ENST00000504120.2	+	1	331	c.331G>A	c.(331-333)Gac>Aac	p.D111N	PCDHA1_ENST00000394633.3_Missense_Mutation_p.D111N|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D111N	NM_018900.2	NP_061723.1												p.D111N(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGATCGCCGACAGGCCGCT	0.498000													83	83					0	0	0.014410	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542094	133542094	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:133542094C>A	ENST00000409261.1	-	14	2663	c.2290G>T	c.(2290-2292)Gtg>Ttg	p.V764L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V764L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	764							protein binding	p.V764L(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTTGTGTCACTGTCCTGGAG	0.418000													16	89					0.00498961	0.00519751	0.004990	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140616204	140616204	+	RNA	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:140616204C>A	ENST00000526308.1	+	0	2267					NR_001281.1													p.A640E(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CTGGTGGTGGCGTTGGCCTCG	0.682000													74	113					1.08321e-29	1.63503e-29	0.014410	1	0
LCT	3938	broad.mit.edu	37	2	136564899	136564899	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:136564899C>A	ENST00000264162.2	-	9	3982	c.3972G>T	c.(3970-3972)tgG>tgT	p.W1324C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1324	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.W1324C(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCATTTAGCCACTCAAAGT	0.527000													41	49					4.14481e-20	5.85839e-20	0.006230	1	0
SCIN	85477	broad.mit.edu	37	7	12683870	12683870	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:12683870G>A	ENST00000297029.5	+	12	1790	c.1689G>A	c.(1687-1689)gaG>gaA	p.E563E	SCIN_ENST00000445618.2_Silent_p.E316E|SCIN_ENST00000519209.1_Silent_p.E316E	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	563	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.E563E(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGGAGGAGGAGAAAGGAGCAG	0.473000													5	21					0	0	0.000602	0	0
MGAT5	4249	broad.mit.edu	37	2	135027974	135027974	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:135027974G>C	ENST00000409645.1	+	3	511	c.259G>C	c.(259-261)Gct>Cct	p.A87P	MGAT5_ENST00000281923.2_Missense_Mutation_p.A87P			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	87					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	p.A87P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GAAAACCCTTGCTGTGTTATT	0.418000													5	69					0	0	0.001984	0	0
CYP19A1	1588	broad.mit.edu	37	15	51535050	51535050	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:51535050G>A	ENST00000396402.1	-	2	213	c.60C>T	c.(58-60)gcC>gcT	p.A20A	CYP19A1_ENST00000559878.1_Silent_p.A20A|CYP19A1_ENST00000396404.4_Silent_p.A20A|CYP19A1_ENST00000405913.3_Silent_p.A20A|CYP19A1_ENST00000260433.2_Silent_p.A20A|CYP19A1_ENST00000557858.1_Silent_p.A20A|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	20					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.A20A(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CAGCAGGCATGGCTTCAGGCA	0.488000													58	79					0	0	0.014410	0	0
PARP4	143	broad.mit.edu	37	13	25017845	25017845	+	Silent	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr13:25017845T>A	ENST00000381989.3	-	28	3495	c.3390A>T	c.(3388-3390)cgA>cgT	p.R1130R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1130					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.R1130R(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGATTAGAGCTCGGGCTGCCA	0.343000													87	57					0	0	0.014410	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39703403	39703403	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:39703403C>T	ENST00000553728.1	+	1	298	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	MIA2_ENST00000280082.3_Missense_Mutation_p.L29F|MIA2_ENST00000556784.1_Missense_Mutation_p.L29F														p.L29F(1)									GCTGGCAGACCTTAAAAAATG	0.423000													10	40					0	0	0.008291	0	0
DCX	1641	broad.mit.edu	37	X	110653618	110653618	+	Silent	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:110653618A>G	ENST00000338081.3	-	2	423	c.252T>C	c.(250-252)ctT>ctC	p.L84L	DCX_ENST00000356915.2_Silent_p.L3L|DCX_ENST00000371993.2_Silent_p.L3L|DCX_ENST00000488120.1_Silent_p.L3L|DCX_ENST00000356220.3_Silent_p.L3L|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	84					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.L3L(1)|p.L84L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTCCAAAATCAAGTTCCATAT	0.498000													3	68					0	0	0.004672	0	0
FOXN1	8456	broad.mit.edu	37	17	26864298	26864298	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:26864298G>A	ENST00000226247.2	+	8	1820	c.1791G>A	c.(1789-1791)ttG>ttA	p.L597L	FOXN1_ENST00000579795.1_Silent_p.L597L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	597					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L597L(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGGTGACTTGGCAGCCCCGG	0.672000													6	50					0	0	0.001168	0	0
OR8B2	26595	broad.mit.edu	37	11	124253209	124253209	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:124253209C>G	ENST00000375013.2	-	1	49	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAATAAATTCAGTCACTAAG	0.373000													15	100					0	0	0.008871	0	0
ZNF391	346157	broad.mit.edu	37	6	27368575	27368575	+	Silent	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:27368575T>C	ENST00000244576.4	+	3	971	c.426T>C	c.(424-426)tgT>tgC	p.C142C		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C142C(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCAACAAATGTGGGAAATCTT	0.378000													21	118					0	0	0.010504	0	0
MED28	80306	broad.mit.edu	37	4	17616296	17616296	+	Missense_Mutation	SNP	G	G	T	rs10028056	byFrequency	TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:17616296G>T	ENST00000237380.6	+	1	43	c.19G>T	c.(19-21)Ggt>Tgt	p.G7C		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding	p.G7C(1)		lung(6)|skin(2)	8						TCCACTAGGGGGTATGTTTTC	0.652000													13	57					1.5842e-08	1.84209e-08	0.001855	1	0
GATA5	140628	broad.mit.edu	37	20	61040522	61040522	+	Splice_Site	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr20:61040522T>A	ENST00000252997.2	-	6	975		c.e6-2			NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5						blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.?(1)		kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			TTGTGGATCCTGGAAGCGAAG	0.627000													36	44					0	0	0.006230	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301736	42301736	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:42301736G>A	ENST00000357396.3	+	2	521	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	94	Ig-like V-type.					integral to membrane		p.A94T(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCCAGGGGCCGCATACAGCGG	0.463000													5	273					0	0	0.001168	0	0
SYT3	84258	broad.mit.edu	37	19	51135967	51135967	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:51135967G>T	ENST00000338916.4	-	2	883	c.250C>A	c.(250-252)Cgg>Agg	p.R84R	SYT3_ENST00000600079.1_Silent_p.R84R|SYT3_ENST00000593901.1_Silent_p.R84R|SYT3_ENST00000544769.1_Silent_p.R84R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	84						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R84R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCCTTGTCCCGCCAGGGCACC	0.652000													34	41					6.05902e-23	8.78119e-23	0.003755	1	0
GPR64	10149	broad.mit.edu	37	X	19031915	19031915	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:19031915G>C	ENST00000354791.3	-	15	1181	c.940C>G	c.(940-942)Ccc>Gcc	p.P314A	GPR64_ENST00000360279.4_Missense_Mutation_p.P308A|GPR64_ENST00000379878.3_Missense_Mutation_p.P314A|GPR64_ENST00000356606.4_Missense_Mutation_p.P316A|GPR64_ENST00000379869.3_Missense_Mutation_p.P330A|GPR64_ENST00000379873.2_Missense_Mutation_p.P330A|GPR64_ENST00000379876.1_Missense_Mutation_p.P306A|GPR64_ENST00000340581.3_Missense_Mutation_p.P300A|GPR64_ENST00000357991.3_Missense_Mutation_p.P327A|GPR64_ENST00000357544.3_Missense_Mutation_p.P300A			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	330					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.P327A(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TGGGTTTGGGGCATAGGGGAA	0.582000													69	30					0	0	0.014410	0	0
ZNF678	339500	broad.mit.edu	37	1	227842427	227842427	+	Missense_Mutation	SNP	G	G	T	rs145397350		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:227842427G>T	ENST00000343776.4	+	4	821	c.476G>T	c.(475-477)gGc>gTc	p.G159V	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.G214V			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	214					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.G214V(1)|p.G159V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GACGAATGTGGCAAAGTTTTT	0.333000													25	135					7.92952e-12	1.00692e-11	0.003954	1	0
CDC45	8318	broad.mit.edu	37	22	19471469	19471469	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr22:19471469C>T	ENST00000407835.1	+	6	683	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.H143Y|CDC45_ENST00000404724.3_Missense_Mutation_p.H97Y|CDC45_ENST00000437685.2_Missense_Mutation_p.H143Y			O75419	CDC45_HUMAN	cell division cycle 45	143					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	p.H143Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GGATGAAGAGCATTCAGGAAA	0.443000													39	23					0	0	0.004878	0	0
PHLPP2	23035	broad.mit.edu	37	16	71710350	71710350	+	Splice_Site	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:71710350T>A	ENST00000393524.2	-	8	2204	c.1471_splice	c.e8+1	p.R491_splice	PHLPP2_ENST00000567016.1_Splice_Site_p.R526_splice|PHLPP2_ENST00000356272.3_Splice_Site_p.R491_splice|PHLPP2_ENST00000568954.1_Splice_Site_p.R491_splice|PHLPP2_ENST00000360429.3_Splice_Site_p.R491_splice			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	491						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.R491W(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAAAACTCACTGTTGGAACTG	0.512000													18	25					0	0	0.007413	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888465	12888465	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:12888465G>T	ENST00000535591.1	-	2	254	c.59C>A	c.(58-60)cCc>cAc	p.P20H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	20								p.P20H(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCGGCGGAAGGGCCAGGCCTG	0.607000													27	97					1.39806e-14	1.85788e-14	0.008361	1	0
MYO1D	4642	broad.mit.edu	37	17	31048075	31048075	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:31048075C>A	ENST00000318217.5	-	15	2183	c.1879G>T	c.(1879-1881)Gcc>Tcc	p.A627S	MYO1D_ENST00000579584.1_Missense_Mutation_p.A627S|MYO1D_ENST00000394649.4_Missense_Mutation_p.A539S	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	627	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding	p.A627S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGGCGGAAGGCAAATCCTGCC	0.473000													82	89					2.97807e-44	4.58165e-44	0.014410	1	0
EXOC6B	23233	broad.mit.edu	37	2	72562101	72562101	+	Missense_Mutation	SNP	T	T	A	rs111624023		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:72562101T>A	ENST00000272427.6	-	20	2301	c.2171A>T	c.(2170-2172)cAg>cTg	p.Q724L	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	724					protein transport|vesicle docking involved in exocytosis	exocyst		p.Q724L(1)|p.Q261L(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GAAGGCCAACTGCAGCGTGTC	0.453000													51	87					0	0	0.014410	0	0
PDK2	5164	broad.mit.edu	37	17	48186727	48186727	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:48186727T>C	ENST00000503176.1	+	10	1207	c.1046T>C	c.(1045-1047)aTg>aCg	p.M349T	PDK2_ENST00000007708.3_Missense_Mutation_p.M285T	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	349	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.M349T(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CTCTTCTCCATGGAAGGCTTT	0.597000									Autosomal Dominant Polycystic Kidney Disease				9	35					0	0	0.004482	0	0
BAGE2	85319	broad.mit.edu	37	21	11097608	11097608	+	RNA	SNP	C	C	A	rs4913758		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr21:11097608C>A	ENST00000470054.1	-	0	261									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)		ccttcatcagcctggcttgga	0.552000													4	64					2.56e-06	2.86835e-06	0.009096	1	0
SHC2	25759	broad.mit.edu	37	19	436423	436423	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:436423C>T	ENST00000264554.6	-	6	782	c.783G>A	c.(781-783)acG>acA	p.T261T		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	261	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		p.T622T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCACGTAATCCGTCATGTCCT	0.711000													3	37					0	0	0.009096	0	0
PKP1	5317	broad.mit.edu	37	1	201294883	201294883	+	Splice_Site	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:201294883G>A	ENST00000263946.3	+	13	2337	c.2084_splice	c.e13-1	p.A696_splice	PKP1_ENST00000367324.3_Splice_Site_p.A675_splice|PKP1_ENST00000352845.3_Splice_Site_p.A696_splice	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	696					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	p.A675T(1)|p.A696T(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCTGCCCAGTGCCTCACCCAA	0.597000													45	29					0	0	0.014410	0	0
CNBD1	168975	broad.mit.edu	37	8	87899795	87899795	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:87899795T>G	ENST00000518476.1	+	2	165	c.114T>G	c.(112-114)aaT>aaG	p.N38K		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	38								p.N38K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AGCACATTAATTATGGCCAGT	0.279000													4	17					0	0	0.009096	0	0
EIF4G1	1981	broad.mit.edu	37	3	184052638	184052638	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:184052638C>T	ENST00000342981.4	+	32	5159	c.4745C>T	c.(4744-4746)tCt>tTt	p.S1582F	EIF4G1_ENST00000435046.2_Missense_Mutation_p.S1385F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S1581F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S1588F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S1386F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S1588F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S1494F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S1541F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S1588F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S1417F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S1542F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S1495F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S1581F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S1418F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1581	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S1581F(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCTTAAATCTGTCACAGCC	0.597000													10	52					0	0	0.001855	0	0
MED16	10025	broad.mit.edu	37	19	872078	872078	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:872078C>T	ENST00000312090.6	-	12	2096	c.1946G>A	c.(1945-1947)gGc>gAc	p.G649D	MED16_ENST00000589119.1_Missense_Mutation_p.G649D|MED16_ENST00000269814.4_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.G649D|MED16_ENST00000395808.3_Missense_Mutation_p.G649D			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	649					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.G649D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		CAGCGAGGTGCCGTCCCGCAG	0.657000													3	36					0	0	0.004672	0	0
FYN	2534	broad.mit.edu	37	6	112024101	112024101	+	Silent	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:112024101T>A	ENST00000354650.3	-	8	1290	c.684A>T	c.(682-684)gtA>gtT	p.V228V	FYN_ENST00000368682.3_Silent_p.V228V|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368678.4_Silent_p.V228V|FYN_ENST00000368667.2_Silent_p.V228V|FYN_ENST00000356013.2_Silent_p.V228V|FYN_ENST00000229471.4_Silent_p.V228V|FYN_ENST00000538466.1_Silent_p.V228V|FYN_ENST00000229470.5_Silent_p.V179V	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	228	SH2.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	p.V228V(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGTAATGTTGTACAAGCTGCT	0.433000													22	21					0	0	0.002780	0	0
TG	7038	broad.mit.edu	37	8	133948035	133948035	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:133948035G>A	ENST00000220616.4	+	25	5007	c.4967G>A	c.(4966-4968)aGc>aAc	p.S1656N	TG_ENST00000377869.1_Missense_Mutation_p.S1599N|TG_ENST00000542445.1_Missense_Mutation_p.S90N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1656					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.S1656N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAGGCCACCAGCTTTGGAAGT	0.448000													13	82					0	0	0.002450	0	0
ZP2	7783	broad.mit.edu	37	16	21214498	21214498	+	Silent	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:21214498T>C	ENST00000574002.1	-	11	1529	c.1047A>G	c.(1045-1047)acA>acG	p.T349T	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.T349T|ZP2_ENST00000574091.1_Silent_p.T349T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	349					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	p.T349T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCATGGATACTGTCTCTGGCC	0.403000													4	70					0	0	0.009096	0	0
OC90	729330	broad.mit.edu	37	8	133051267	133051267	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:133051267G>T	ENST00000262283.5	-	10	1248	c.1149C>A	c.(1147-1149)acC>acA	p.T383T	OC90_ENST00000603859.1_Silent_p.T187T|OC90_ENST00000254627.3_Silent_p.T187T|OC90_ENST00000443356.2_Silent_p.T187T			Q02509	OC90_HUMAN	otoconin 90	187					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.T193T(1)|p.T383T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCAGAAGGAGGTGTCCAGAA	0.547000													12	37					3.27435e-08	3.76362e-08	0.002450	1	0
MYO19	80179	broad.mit.edu	37	17	34863665	34863665	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:34863665C>A	ENST00000431794.3	-	15	1852	c.1330G>T	c.(1330-1332)Gct>Tct	p.A444S	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	444	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.A444S(2)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGGTAGTGAGCCACAAAATGC	0.527000													13	10					0.000151284	0.000163994	0.001855	1	0
GBP3	2635	broad.mit.edu	37	1	89480279	89480279	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:89480279C>T	ENST00000370481.4	-	4	599	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	127						integral to membrane	GTP binding|GTPase activity	p.V127M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CTATTGTACACGAGAGTGCTG	0.517000													41	124					0	0	0.013114	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559014	140559014	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:140559014C>G	ENST00000239444.2	+	1	1644	c.1399C>G	c.(1399-1401)Ccc>Gcc	p.P467A		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		467	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P467A(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACAACAGCCCCGCCCTGCA	0.632000													32	615					0	0	0.003271	0	0
CDH12	1010	broad.mit.edu	37	5	21802463	21802463	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:21802463G>T	ENST00000382254.1	-	10	2155	c.1069C>A	c.(1069-1071)Cac>Aac	p.H357N	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.H317N|CDH12_ENST00000504376.2_Missense_Mutation_p.H357N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H357N(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAACCGGTGGTCAAGGTGA	0.473000										HNSCC(59;0.17)			12	40					1.61879e-10	1.98017e-10	0.013537	1	0
MLLT10	8028	broad.mit.edu	37	10	21884350	21884350	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr10:21884350C>T	ENST00000377072.3	+	5	734	c.386C>T	c.(385-387)cCg>cTg	p.P129L	MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000307729.7_Missense_Mutation_p.P129L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P129L|MLLT10_ENST00000377059.3_Missense_Mutation_p.P129L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	129	Self-association.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P129L(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAGTCTGTTCCGCATGATCGT	0.348000			T	"""MLL, PICALM, CDK6"""	AL								26	49					0	0	0.005443	0	0
IGHG3	3502	broad.mit.edu	37	14	106236029	106236029	+	RNA	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:106236029G>C	ENST00000390551.2	-	0	774																											GATGGGGGCTGGGAGGGCTTT	0.602000													5	422					0	0	0.001168	0	0
TFEC	22797	broad.mit.edu	37	7	115624558	115624558	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:115624558G>A	ENST00000484212.1	-	4	382	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	TFEC_ENST00000393485.1_5'UTR|TFEC_ENST00000265440.7_5'UTR|TFEC_ENST00000320239.7_5'UTR			O14948	TFEC_HUMAN	transcription factor EC	0	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTTTCCAGGTGTGCTGGGACC	0.403000													25	40					0	0	0.002780	0	0
RFX2	5990	broad.mit.edu	37	19	5997179	5997179	+	Silent	SNP	G	G	A	rs147306532		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:5997179G>A	ENST00000303657.5	-	16	2054	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	RFX2_ENST00000359161.3_Silent_p.F635F|RFX2_ENST00000592546.1_Silent_p.F610F|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.F635F(1)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGAAGGAGCCGAAGCTGGCAG	0.667000													13	27					0	0	0.001855	0	0
ZNF395	55893	broad.mit.edu	37	8	28206337	28206337	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:28206337C>A	ENST00000344423.5	-	10	1572	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W	ZNF395_ENST00000523202.1_Missense_Mutation_p.G481W|ZNF395_ENST00000523095.1_Missense_Mutation_p.G481W	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	481					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G481W(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TTAGCCTCCCCTCGGGCTTTC	0.627000													17	23					8.10497e-08	9.23644e-08	0.010504	1	0
DNAH7	56171	broad.mit.edu	37	2	196689130	196689130	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:196689130A>G	ENST00000312428.6	-	49	9240	c.9140T>C	c.(9139-9141)tTg>tCg	p.L3047S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3047	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3047S(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						AAGAGGTTCCAAAATAGGATC	0.353000													21	81					0	0	0.002780	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400997	90400997	+	Silent	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:90400997C>G	ENST00000337338.5	+	3	2777	c.2370C>G	c.(2368-2370)ctC>ctG	p.L790L	LRRC8D_ENST00000394593.3_Silent_p.L790L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	790						integral to membrane	protein binding	p.L790L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCACCTCACTCCCAGAGAAAG	0.512000													30	60					0	0	0.008361	0	0
WDR13	64743	broad.mit.edu	37	X	48460278	48460278	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:48460278A>G	ENST00000218056.5	+	6	1443	c.938A>G	c.(937-939)gAt>gGt	p.D313G		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	313						cytoplasm|nucleus		p.D313G(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTGTCCTTTGATGCCCCTGGC	0.572000													15	12					0	0	0.004990	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994771	45994771	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr21:45994771C>A	ENST00000400374.3	+	1	1166	c.1136C>A	c.(1135-1137)tCc>tAc	p.S379Y	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	379	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.S379Y(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCCGTCCCTTCCTGCTGTGCT	0.711000													17	68					6.33239e-15	8.55728e-15	0.010504	1	0
NSUN5P1	155400	broad.mit.edu	37	7	75045373	75045373	+	RNA	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:75045373C>T	ENST00000393633.2	+	0	4184																		p.S38F(1)		large_intestine(1)|lung(1)	2						ACTTTCCCTTCCCTGCAGCGG	0.647000													3	20					0	0	0.004672	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810495	65810495	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:65810495T>G	ENST00000312006.4	-	3	1060	c.779A>C	c.(778-780)gAc>gCc	p.D260A	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D260A	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	260					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.D260A(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						GAGCACGTCGTCCAGGTCCCA	0.706000													8	52					0	0	0.003080	0	0
TRAC	28755	broad.mit.edu	37	14	23019543	23019543	+	RNA	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:23019543G>T	ENST00000478163.3	+	0	361																											ATTGGGTTCCGAATCCTCCTC	0.552000													39	61					2.62258e-09	3.10364e-09	0.010771	1	0
AKAP14	158798	broad.mit.edu	37	X	119053913	119053913	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:119053913G>T	ENST00000371431.3	+	6	755	c.481G>T	c.(481-483)Gca>Tca	p.A161S	AKAP14_ENST00000334356.2_Missense_Mutation_p.A101S|AKAP14_ENST00000371425.4_Missense_Mutation_p.A101S|AKAP14_ENST00000371423.2_Missense_Mutation_p.A102S|AKAP14_ENST00000491105.1_3'UTR	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	161						cytoplasm		p.A161S(1)		endometrium(4)|large_intestine(1)|lung(8)	13						TGACCACCAAGCATTAGTTCA	0.413000													35	17					4.62619e-21	6.65639e-21	0.004289	1	0
CACNA1E	777	broad.mit.edu	37	1	181705475	181705475	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:181705475G>C	ENST00000526775.1	+	21	3435	c.3270G>C	c.(3268-3270)gaG>gaC	p.E1090D	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1041D|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E716D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1109D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1060D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1090D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1109D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1109					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1109D(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						aggatgaggaggaggtggaga	0.507000													9	6					0	0	0.004482	0	0
CSMD1	64478	broad.mit.edu	37	8	3474272	3474272	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:3474272C>A	ENST00000602557.1	-	8	1612	c.1057G>T	c.(1057-1059)Ggg>Tgg	p.G353W	CSMD1_ENST00000602723.1_Missense_Mutation_p.G353W|CSMD1_ENST00000400186.3_Missense_Mutation_p.G353W|CSMD1_ENST00000542608.1_Missense_Mutation_p.G353W|CSMD1_ENST00000539096.1_Missense_Mutation_p.G353W|CSMD1_ENST00000537824.1_Missense_Mutation_p.G353W|CSMD1_ENST00000520002.1_Missense_Mutation_p.G353W			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	353	Sushi 2.					integral to membrane		p.G353W(1)|p.G81W(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTGGAATCCCAGGATCTGGA	0.383000													13	33					4.36969e-10	5.31269e-10	0.001855	1	0
PLXNA4	91584	broad.mit.edu	37	7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:131859587G>A	ENST00000359827.3	-	21	4929	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W			Q9HCM2	PLXA4_HUMAN	plexin A4	1323						integral to membrane|intracellular|plasma membrane		p.R1323W(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACAGCACCCGCATGGTGTAA	0.582000													4	133					0	0	0.009096	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232411	1232411	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:1232411C>A	ENST00000324642.3	+	2	361	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	SLC6A18_ENST00000296821.4_Missense_Mutation_p.Q80K	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	80					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.Q80K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCCATCGGCCAGCGGCTGCG	0.662000													13	19					1.5842e-08	1.84209e-08	0.001855	1	0
LEMD1	93273	broad.mit.edu	37	1	205389623	205389623	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:205389623G>A	ENST00000367153.4	-	2	144	c.42C>T	c.(40-42)aaC>aaT	p.N14N	LEMD1_ENST00000367151.2_Silent_p.N14N|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367149.3_Silent_p.N14N|LEMD1_ENST00000367154.1_Silent_p.N14N|LEMD1_ENST00000391936.2_Silent_p.N14N|LEMD1_ENST00000367152.1_Silent_p.N14N	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	14	LEM.					integral to membrane|nuclear envelope		p.N14N(2)		breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TCTCAAGTTGGTTCTGCAATT	0.363000													13	61					0	0	0.002450	0	0
TET1	80312	broad.mit.edu	37	10	70451167	70451167	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr10:70451167G>T	ENST00000373644.4	+	12	6216	c.6007G>T	c.(6007-6009)Gat>Tat	p.D2003Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2003					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.D2003Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATCTTTTTGGATGCAAATAT	0.542000													40	147					6.5261e-18	9.06403e-18	0.008740	1	0
SDC3	9672	broad.mit.edu	37	1	31351564	31351564	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:31351564G>C	ENST00000339394.6	-	2	336	c.162C>G	c.(160-162)aaC>aaG	p.N54K	SDC3_ENST00000336798.7_5'UTR|SDC3_ENST00000471567.1_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	54						integral to membrane	cytoskeletal protein binding	p.N54K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTCTCGAAGTTCTCACTGC	0.632000													21	84					0	0	0.010504	0	0
BAGE2	85319	broad.mit.edu	37	21	11097607	11097607	+	RNA	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr21:11097607G>A	ENST00000470054.1	-	0	262									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)		tccttcatcagcctggcttgg	0.557000													5	63					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179593686	179593686	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:179593686C>A	ENST00000589042.1	-	65	19303	c.19079G>T	c.(19078-19080)gGg>gTg	p.G6360V	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6043V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5116V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6043	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G5116V(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)			GGTATATCTCCCACTGTGTCC	0.383000													15	28					6.72482e-11	8.30225e-11	0.003163	1	0
C1orf94	84970	broad.mit.edu	37	1	34663081	34663081	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:34663081C>T	ENST00000488417.1	+	2	696	c.576C>T	c.(574-576)ccC>ccT	p.P192P	C1orf94_ENST00000373374.3_Silent_p.P2P	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	2							protein binding	p.P2P(1)|p.P192P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGGCCATGCCCGTTATCAGCA	0.572000													17	62					0	0	0.004990	0	0
RAB2A	5862	broad.mit.edu	37	8	61471410	61471410	+	Splice_Site	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:61471410G>C	ENST00000262646.7	+	2	397		c.e2-1		RAB2A_ENST00000531289.1_Intron|RAB2A_ENST00000529579.1_Splice_Site	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family						ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	p.?(1)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TTAACTTTCAGGTGTTGGTAA	0.358000													8	95					0	0	0.004482	0	0
TKT	7086	broad.mit.edu	37	3	53262099	53262099	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:53262099A>T	ENST00000462138.1	-	12	1634	c.1546T>A	c.(1546-1548)Ttg>Atg	p.L516M	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.L516M|TKT_ENST00000296289.6_Missense_Mutation_p.L469M|TKT_ENST00000423516.1_Missense_Mutation_p.L524M			P29401	TKT_HUMAN	transketolase	516					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.L516M(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GCAGCGGCCAAGGCCTCGTGC	0.592000													16	24					0	0	0.004990	0	0
KALRN	8997	broad.mit.edu	37	3	124418854	124418854	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:124418854C>T	ENST00000360013.3	+	56	8097	c.7970C>T	c.(7969-7971)tCg>tTg	p.S2657L	KALRN_ENST00000291478.4_Missense_Mutation_p.S960L|KALRN_ENST00000428018.2_Missense_Mutation_p.S928L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2656	Fibronectin type-III.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.S960L(1)|p.S2657L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCGAGCCCTCGGAGTTTGTG	0.597000													26	106					0	0	0.003330	0	0
SOX7	83595	broad.mit.edu	37	8	10583302	10583302	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:10583302G>C	ENST00000304501.1	-	2	1191	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	SOX7_ENST00000554914.1_Missense_Mutation_p.I423M|SOX7_ENST00000553390.1_Missense_Mutation_p.I423M	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	371	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.I371M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCAGGACGGAGATGAGGCTGG	0.647000													7	18					0	0	0.003080	0	0
ETV5	2119	broad.mit.edu	37	3	185797643	185797643	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:185797643T>G	ENST00000306376.5	-	7	859	c.613A>C	c.(613-615)Aag>Cag	p.K205Q	ETV5_ENST00000537818.1_Missense_Mutation_p.K247Q|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.K205Q	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	205					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K205Q(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGCATCATCTTTGGCATCTGC	0.567000			T	"""TMPRSS2, SCL45A3"""	Prostate								16	132					0	0	0.004990	0	0
FAT4	79633	broad.mit.edu	37	4	126241071	126241071	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:126241071C>T	ENST00000394329.3	+	1	3518	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1169	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1169W(4)		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						TCTTATGAGGCGGAGAGGGAC	0.453000													67	78					0	0	0.014410	0	0
CTNND2	1501	broad.mit.edu	37	5	11236919	11236919	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:11236919C>A	ENST00000304623.8	-	10	1834	c.1645G>T	c.(1645-1647)Gac>Tac	p.D549Y	CTNND2_ENST00000511377.1_Missense_Mutation_p.D458Y|CTNND2_ENST00000359640.2_Missense_Mutation_p.D549Y|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.D212Y|CTNND2_ENST00000458100.2_Missense_Mutation_p.D116Y	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	549					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.D549Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGTTCCGGGTCTCTCCATCCA	0.478000													53	73					9.57592e-29	1.42393e-28	0.014410	1	0
SNTG1	54212	broad.mit.edu	37	8	51465646	51465646	+	Silent	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:51465646C>A	ENST00000522124.1	+	12	1378	c.717C>A	c.(715-717)gtC>gtA	p.V239V	SNTG1_ENST00000517473.1_Silent_p.V239V|SNTG1_ENST00000276467.5_Silent_p.V239V|SNTG1_ENST00000518864.1_Silent_p.V239V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	239					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.V239V(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGGATGGGGTCTGCACTGGGA	0.423000													20	87					5.45024e-15	7.41529e-15	0.003330	1	0
OR5AU1	390445	broad.mit.edu	37	14	21623231	21623231	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:21623231G>A	ENST00000304418.3	-	1	991	c.954C>T	c.(952-954)tcC>tcT	p.S318S		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S318S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCTGGGTCAAGGAGTAGCTGG	0.507000													29	76					0	0	0.009535	0	0
FBN3	84467	broad.mit.edu	37	19	8138147	8138147	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:8138147G>A	ENST00000600128.1	-	62	8151	c.7737C>T	c.(7735-7737)tgC>tgT	p.C2579C	FBN3_ENST00000601739.1_Silent_p.C2579C|FBN3_ENST00000270509.2_Silent_p.C2579C			Q75N90	FBN3_HUMAN	fibrillin 3	2579	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.C2579C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGCGCTCCCGCAGGTGGGGG	0.647000													5	33					0	0	0.000602	0	0
ICAM5	7087	broad.mit.edu	37	19	10404521	10404521	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:10404521G>A	ENST00000221980.4	+	7	1676	c.1613G>A	c.(1612-1614)gGg>gAg	p.G538E		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	538	Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane		p.G538E(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GTCATCGAGGGGCTGTTGCGT	0.657000													15	39					0	0	0.004990	0	0
FUK	197258	broad.mit.edu	37	16	70500067	70500067	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:70500067G>T	ENST00000288078.6	+	5	550	c.318G>T	c.(316-318)agG>agT	p.R106S	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.R89S|FUK_ENST00000378912.2_Missense_Mutation_p.R138S	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	106						cytoplasm	ATP binding|fucokinase activity	p.R106S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ACTGTGGCAGGGCTTTCACCT	0.622000													10	56					1.33987e-11	1.69069e-11	0.008291	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907393	12907393	+	Missense_Mutation	SNP	C	C	A	rs143857379	byFrequency	TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:12907393C>A	ENST00000317869.6	-	2	975	c.750G>T	c.(748-750)gaG>gaT	p.E250D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.E250D(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTGGGTCCCCCTCCTCAGCAG	0.498000													6	194					5.9392e-07	6.71096e-07	0.001168	1	0
DOCK2	1794	broad.mit.edu	37	5	169494560	169494560	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:169494560C>A	ENST00000256935.8	+	45	4594	c.4514C>A	c.(4513-4515)gCc>gAc	p.A1505D	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A566D|DOCK2_ENST00000520908.1_Missense_Mutation_p.A997D	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1505	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.A1505D(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTCCACGGCCAATGAGAAG	0.463000													9	59					0.00448238	0.00469359	0.004482	1	0
TAS2R20	259295	broad.mit.edu	37	12	11150167	11150167	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:11150167C>A	ENST00000538986.1	-	1	307	c.308G>T	c.(307-309)aGc>aTc	p.S103I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	103					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S103I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						ATAAAATATGCTGAGGCTAGT	0.358000													30	111					1.16021e-09	1.38947e-09	0.007291	1	0
LILRB1	10859	broad.mit.edu	37	19	55143593	55143593	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:55143593C>T	ENST00000396331.1	+	6	923	c.566C>T	c.(565-567)cCg>cTg	p.P189L	LILRB1_ENST00000448689.1_Missense_Mutation_p.P189L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P189L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P189L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P189L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P189L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P189L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P189L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P189L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P225L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P189L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	189	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P189L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCGTGAGCCCGAGTCGCAGG	0.592000										HNSCC(37;0.09)			67	98					0	0	0.014410	0	0
MMD2	221938	broad.mit.edu	37	7	4949536	4949536	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:4949536G>C	ENST00000404774.3	-	6	779	c.585C>G	c.(583-585)ttC>ttG	p.F195L	MMD2_ENST00000401401.3_Missense_Mutation_p.F171L|MMD2_ENST00000406755.1_Missense_Mutation_p.F171L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	195						integral to membrane	receptor activity	p.F171L(1)|p.F195L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CCAGGGCGGGGAAGAAGCCCA	0.572000													15	23					0	0	0.002450	0	0
LONRF3	79836	broad.mit.edu	37	X	118112341	118112341	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:118112341C>G	ENST00000365713.2	+	2	1014	c.851C>G	c.(850-852)tCt>tGt	p.S284C	LONRF3_ENST00000304778.7_Missense_Mutation_p.S284C|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.S284C			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	284					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.S284C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGCAATCGGTCTCAGATTTAT	0.438000													37	19					0	0	0.004289	0	0
RNF152	220441	broad.mit.edu	37	18	59483393	59483393	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr18:59483393G>A	ENST00000312828.3	-	2	1403	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	102					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.L102L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGCAGGGGCAGCATGTAGCAC	0.642000													13	47					0	0	0.001855	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21353597	21353597	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:21353597A>T	ENST00000256958.2	+	9	1222	c.1126A>T	c.(1126-1128)Atc>Ttc	p.I376F		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	376					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.I376F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAAGGCTAACATCTTATTGGG	0.323000													6	29					0	0	0.001168	0	0
LNX1	84708	broad.mit.edu	37	4	54327665	54327665	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:54327665T>C	ENST00000306888.2	-	9	1951	c.1700A>G	c.(1699-1701)aAc>aGc	p.N567S	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.N663S	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	663	PDZ 3.					cytoplasm	zinc ion binding	p.N567S(1)|p.N663S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAAAGGTTTGTTTCCATTGTA	0.328000													7	37					0	0	0.004482	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503277	140503277	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:140503277A>G	ENST00000194152.1	+	1	1697	c.1697A>G	c.(1696-1698)aAt>aGt	p.N566S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		566					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.N566S(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCTGCAGAATGGCTCCGCG	0.701000													14	79					0	0	0.008871	0	0
IRX1	79192	broad.mit.edu	37	5	3601123	3601123	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:3601123C>G	ENST00000302006.3	+	4	1464	c.1412C>G	c.(1411-1413)cCg>cGg	p.P471R		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	471						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P471R(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGGGAACGCCGCGGATCCTA	0.652000													19	55					0	0	0.014323	0	0
TEKT4	150483	broad.mit.edu	37	2	95539718	95539718	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:95539718G>C	ENST00000295201.4	+	3	715	c.578G>C	c.(577-579)cGg>cCg	p.R193P	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	193					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R193P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGACTGAACCGGGAGCACAAG	0.667000													5	72					0	0	0.001168	0	0
LIMS1	3987	broad.mit.edu	37	2	109276117	109276117	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:109276117C>T	ENST00000393310.1	+	2	220	c.53C>T	c.(52-54)gCg>gTg	p.A18V	LIMS1_ENST00000338045.3_Missense_Mutation_p.A18V|LIMS1_ENST00000393314.2_Missense_Mutation_p.A80V|LIMS1_ENST00000409441.1_Missense_Mutation_p.A55V|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000544547.1_Missense_Mutation_p.A30V|LIMS1_ENST00000410093.1_Missense_Mutation_p.A22V|LIMS1_ENST00000542845.1_Missense_Mutation_p.A80V|LIMS1_ENST00000332345.6_Missense_Mutation_p.A18V	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	18	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding	p.A18V(2)|p.A80V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GGCGGCTTTGCGCCCGCTGAG	0.572000													4	139					0	0	0.009096	0	0
FRMD3	257019	broad.mit.edu	37	9	85958123	85958123	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:85958123C>A	ENST00000304195.3	-	5	660	c.454G>T	c.(454-456)Ggt>Tgt	p.G152C	FRMD3_ENST00000376438.1_Missense_Mutation_p.G152C	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	152	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.G152C(1)|p.G48C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ATACAGGCACCCAGGTAGGCA	0.498000													20	35					7.41877e-09	8.70237e-09	0.012319	1	0
CHST1	8534	broad.mit.edu	37	11	45671388	45671388	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:45671388G>A	ENST00000308064.2	-	4	1756	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	362					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.F362F(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGAGAGGCGGAAGCGCCACT	0.662000													15	57					0	0	0.002450	0	0
LMBR1L	55716	broad.mit.edu	37	12	49497572	49497572	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:49497572T>C	ENST00000267102.8	-	6	802	c.460A>G	c.(460-462)Aca>Gca	p.T154A	LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Missense_Mutation_p.T154A|LMBR1L_ENST00000395141.4_Missense_Mutation_p.T149A	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	154					endocytosis	integral to membrane|plasma membrane	receptor activity	p.T149A(1)|p.T154A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCACCACTGTCTCATAGACC	0.552000													65	95					0	0	0.014410	0	0
LRRC6	23639	broad.mit.edu	37	8	133637538	133637538	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:133637538C>T	ENST00000519595.1	-	6	914	c.816G>A	c.(814-816)cgG>cgA	p.R272R	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Silent_p.R272R|LRRC6_ENST00000250173.1_Silent_p.R272R			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	272						cytoplasm		p.R272R(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGTTTCTTCCGTTGTTTTT	0.358000													13	40					0	0	0.001855	0	0
AKAP13	11214	broad.mit.edu	37	15	86205617	86205617	+	Splice_Site	SNP	A	A	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:86205617A>C	ENST00000361243.2	+	12	4826		c.e12-1		RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000394518.2_Intron|AKAP13_ENST00000560579.1_Intron	NM_006738.4	NP_006729.4	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGTCATCCCCAGTATGAGCTG	0.453000													12	216					0	0	0.013537	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75926293	75926293	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:75926293G>T	ENST00000262207.4	+	5	1050	c.582G>T	c.(580-582)caG>caT	p.Q194H	CRISPLD1_ENST00000517786.1_Intron|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.Q6H	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	194						extracellular region		p.Q194H(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTGGGGGCAGATATGGCCCA	0.393000													62	84					6.2918e-36	9.56927e-36	0.014410	1	0
AQP1	358	broad.mit.edu	37	7	30963182	30963182	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:30963182G>A	ENST00000311813.4	+	4	803	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	AQP1_ENST00000441328.2_Missense_Mutation_p.V167M|AQP1_ENST00000409899.1_Missense_Mutation_p.V135M|AQP1_ENST00000409611.1_Missense_Mutation_p.V199M|AQP1_ENST00000434909.2_Missense_Mutation_p.V310M|AQP1_ENST00000509504.1_Missense_Mutation_p.V427M|AQP1_ENST00000482461.1_3'UTR	NM_198098.2	NP_932766.1			aquaporin 1									p.V250M(1)|p.V167M(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				CAGCGGCCAGGTGGAGGAGTA	0.617000													22	35					0	0	0.012319	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	56					0	0	0.001168	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384770	48384770	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:48384770C>T	ENST00000264313.6	+	5	1466	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P157S	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	350						centrosome		p.P350S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						ACGCAATTCACCTCGACCGTC	0.453000													4	54					0	0	0.000602	0	0
GRM5	2915	broad.mit.edu	37	11	88583183	88583183	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:88583183A>T	ENST00000418177.2	-	3	1169	c.802T>A	c.(802-804)Ttg>Atg	p.L268M	GRM5_ENST00000393297.1_Missense_Mutation_p.L268M|GRM5_ENST00000305432.5_Missense_Mutation_p.L268M|GRM5_ENST00000455756.2_Missense_Mutation_p.L268M|GRM5_ENST00000305447.4_Missense_Mutation_p.L268M			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	268					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.L268M(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCCTTGGGCAAGTGACTTGTG	0.552000													33	31					0	0	0.003271	0	0
TNRC6C	57690	broad.mit.edu	37	17	76087626	76087626	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:76087626C>G	ENST00000335749.4	+	14	4468	c.3899C>G	c.(3898-3900)cCc>cGc	p.P1300R	TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1303R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1300R|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1303R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1300R|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1303R	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1303					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	p.P1300R(1)|p.P1303R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGACGCACCCCAACTCCATG	0.587000													7	20					0	0	0.004482	0	0
MON2	23041	broad.mit.edu	37	12	62928628	62928628	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:62928628G>T	ENST00000393630.3	+	13	2028	c.1637G>T	c.(1636-1638)aGt>aTt	p.S546I	MON2_ENST00000552738.1_Missense_Mutation_p.S546I|MON2_ENST00000552115.1_Missense_Mutation_p.S546I|MON2_ENST00000393632.2_Missense_Mutation_p.S546I|MON2_ENST00000546600.1_Missense_Mutation_p.S546I|MON2_ENST00000393629.2_Missense_Mutation_p.S546I|MON2_ENST00000280379.6_Missense_Mutation_p.S546I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	546					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.S546I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTTAAGTTAGTAGGGCTGTT	0.328000													19	74					2.94398e-08	3.39364e-08	0.007413	1	0
EPHA5	2044	broad.mit.edu	37	4	66218804	66218804	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:66218804C>A	ENST00000273854.3	-	13	2854	c.2254G>T	c.(2254-2256)Gtg>Ttg	p.V752L	EPHA5_ENST00000432638.2_Missense_Mutation_p.V589L|EPHA5_ENST00000354839.4_Missense_Mutation_p.V730L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V753L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	752	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V752L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TACTCTGTCACGATCATCACT	0.343000										TSP Lung(17;0.13)			15	18					6.72482e-11	8.30225e-11	0.003163	1	0
TRAK2	66008	broad.mit.edu	37	2	202260067	202260067	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:202260067C>A	ENST00000332624.3	-	8	1298	c.870G>T	c.(868-870)caG>caT	p.Q290H	TRAK2_ENST00000430254.1_Missense_Mutation_p.Q290H	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	290						early endosome|plasma membrane	GABA receptor binding	p.Q290H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GGTCTACAATCTGTGACAAAA	0.388000													16	132					7.81268e-19	1.09652e-18	0.004990	1	0
DUSP26	78986	broad.mit.edu	37	8	33449609	33449609	+	Silent	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:33449609T>C	ENST00000256261.4	-	4	1075	c.558A>G	c.(556-558)cgA>cgG	p.R186R	DUSP26_ENST00000523956.1_Silent_p.R186R	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	186	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R186R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGATGATGCCTCGGTGGTCTT	0.642000													13	32					0	0	0.004007	0	0
HPCAL4	51440	broad.mit.edu	37	1	40148229	40148229	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:40148229C>T	ENST00000372844.3	-	4	946	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	185					central nervous system development	intracellular	calcium ion binding	p.L185L(1)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTCACACTGCAGCAGCAACA	0.557000													36	72					0	0	0.003755	0	0
C1orf116	79098	broad.mit.edu	37	1	207195331	207195331	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:207195331A>G	ENST00000359470.5	-	4	2027	c.1778T>C	c.(1777-1779)cTg>cCg	p.L593P	C1orf116_ENST00000461135.2_Missense_Mutation_p.L347P	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	593						cytoplasm|plasma membrane	receptor activity	p.L593P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CAGCTTCTTCAGGGCCTCCCT	0.562000													72	77					0	0	0.014410	0	0
OR5P2	120065	broad.mit.edu	37	11	7818148	7818148	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:7818148C>A	ENST00000329434.2	-	1	372	c.342G>T	c.(340-342)atG>atT	p.M114I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M114I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTCATAGGCCATGGCAGCCA	0.483000													29	100					1.16021e-09	1.38947e-09	0.007291	1	0
APLF	200558	broad.mit.edu	37	2	68804987	68804987	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:68804987G>T	ENST00000303795.4	+	10	1540	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	457					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	p.G457W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGATAATGTTGGGCAACCCAA	0.413000													27	56					8.24728e-16	1.12976e-15	0.004656	1	0
NARG2	79664	broad.mit.edu	37	15	60740324	60740324	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:60740324C>A	ENST00000261520.4	-	11	2374	c.2140G>T	c.(2140-2142)Gac>Tac	p.D714Y	NARG2_ENST00000439632.1_Missense_Mutation_p.D577Y	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	714						nucleus		p.D714Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCAACATAGTCCTGAAGTTCA	0.343000													20	32					3.99206e-14	5.25271e-14	0.007413	1	0
DDI2	84301	broad.mit.edu	37	1	15953187	15953187	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:15953187C>T	ENST00000480945.1	+	2	333	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	54	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity	p.L54L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGACCTCTCACAGACAACC	0.458000													4	132					0	0	0.000602	0	0
STK32B	55351	broad.mit.edu	37	4	5461853	5461853	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:5461853C>T	ENST00000282908.5	+	9	1229	c.807C>T	c.(805-807)agC>agT	p.S269S	STK32B_ENST00000510398.1_Silent_p.S222S|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.S192S	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	269	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity	p.S269S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ATCCTGAGAGCCGCGTGTCCA	0.567000											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	56					0	0	0.007413	0	0
RANBP3	8498	broad.mit.edu	37	19	5917862	5917862	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:5917862C>T	ENST00000340578.6	-	16	1660	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	RANBP3_ENST00000591092.1_Missense_Mutation_p.E462K|RANBP3_ENST00000439268.2_Missense_Mutation_p.E530K|RANBP3_ENST00000541471.1_Missense_Mutation_p.E407K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E467K	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	535					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	p.E535K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCGTCCTCCTCGTTGGATGGG	0.682000													8	40					0	0	0.003080	0	0
CHST12	55501	broad.mit.edu	37	7	2472309	2472309	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:2472309T>G	ENST00000258711.6	+	2	170	c.35T>G	c.(34-36)gTg>gGg	p.V12G		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	12					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	p.V12G(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTGTGGCTGGTGCTGGGGTCG	0.662000													9	68					0	0	0.006122	0	0
GEM	2669	broad.mit.edu	37	8	95262661	95262661	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:95262661C>A	ENST00000297596.2	-	5	1032	c.768G>T	c.(766-768)caG>caT	p.Q256H	GEM_ENST00000396194.2_Missense_Mutation_p.Q256H	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	256					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	p.Q256H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTTCCTTTTCTGGTAGGCCA	0.552000													5	68					0.000602214	0.000640654	0.000602	1	0
PTGER2	5732	broad.mit.edu	37	14	52781431	52781431	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:52781431G>T	ENST00000245457.5	+	1	319	c.165G>T	c.(163-165)ggG>ggT	p.G55G	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	55						integral to plasma membrane	prostaglandin E receptor activity	p.G55G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GGGACGTGGGGTGCAGCGCCG	0.692000													4	21					1.23904e-05	1.3729e-05	0.000602	1	0
FBN2	2201	broad.mit.edu	37	5	127704944	127704944	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:127704944C>T	ENST00000508053.1	-	22	3153	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	FBN2_ENST00000262464.4_Missense_Mutation_p.E727K|FBN2_ENST00000508989.1_Missense_Mutation_p.E694K|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	727	TB 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E727K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGCAGCATTCGGACTTGGTC	0.478000													31	67					0	0	0.010818	0	0
C11orf45	219833	broad.mit.edu	37	11	128774402	128774402	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:128774402C>T	ENST00000310799.3	-	2	253	c.60G>A	c.(58-60)acG>acA	p.T20T	C11orf45_ENST00000524878.1_Silent_p.T20T|KCNJ5_ENST00000529694.1_Intron|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000530168.1_5'UTR	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	20						extracellular region		p.T20T(1)		endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		tggcagcgtgcgtccagggcg	0.587000													9	64					0	0	0.004482	0	0
DCHS1	8642	broad.mit.edu	37	11	6661991	6661991	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:6661991C>A	ENST00000299441.3	-	2	1265	c.854G>T	c.(853-855)gGt>gTt	p.G285V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	285	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G285V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATTGACACCAGCATCGGC	0.607000													29	27					5.60225e-13	7.29935e-13	0.009535	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899608	112899608	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:112899608C>G	ENST00000374530.3	+	8	1964	c.1784C>G	c.(1783-1785)tCa>tGa	p.S595*	AKAP2_ENST00000259318.7_Nonsense_Mutation_p.S364*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.S595*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.S453*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.S595*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.S595*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.S453*	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		364							enzyme binding	p.S595*(1)|p.S453*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCAGTCAACTCAGACAAGCCA	0.592000													28	20					0	0	0.005443	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958272	143958272	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:143958272G>T	ENST00000292427.4	-	4	657	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L280M|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L209M	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	209					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L209M(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ACCAGGCCCAGCCGCTCTCCA	0.622000									Familial Hyperaldosteronism type I				11	46					0.00010058	0.000109326	0.013537	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515983	140515983	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:140515983G>T	ENST00000231134.5	+	1	1184	c.967G>T	c.(967-969)Ggt>Tgt	p.G323C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		323	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G323C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCACAGATGGTGGGGGCCT	0.478000													31	147					2.2171e-23	3.23664e-23	0.009535	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107446536	107446536	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:107446536G>C	ENST00000409382.3	-	5	1914	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S435C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S435C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	435					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S435C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAACCAGAAGATGGTGGGTT	0.363000													91	143					0	0	0.014410	0	0
FAM194A	131831	broad.mit.edu	37	3	150384584	150384584	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:150384584G>T	ENST00000295910.6	-	13	1770	c.1718C>A	c.(1717-1719)aCc>aAc	p.T573N	FAM194A_ENST00000491361.1_Missense_Mutation_p.T427N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	573								p.T573N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTTCACTTTGGTTCCAACACT	0.328000													17	51					4.7546e-09	5.61015e-09	0.004007	1	0
OLIG3	167826	broad.mit.edu	37	6	137814807	137814807	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:137814807C>T	ENST00000367734.2	-	1	724	c.501G>A	c.(499-501)tcG>tcA	p.S167S		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S167S(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GGTGGCCGGCCGAGTGGCCCA	0.692000													3	20					0	0	0.004672	0	0
ZNF608	57507	broad.mit.edu	37	5	123980150	123980150	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:123980150G>C	ENST00000306315.5	-	5	4345	c.3910C>G	c.(3910-3912)Caa>Gaa	p.Q1304E	ZNF608_ENST00000504926.1_Missense_Mutation_p.Q877E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1304						intracellular	zinc ion binding	p.Q1304E(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCCATTGATTGAGAATCAGGA	0.483000													46	197					0	0	0.011902	0	0
CC2D1A	54862	broad.mit.edu	37	19	14040911	14040911	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:14040911C>T	ENST00000318003.7	+	27	2972	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R910W	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	911					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	p.R911W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCAGCTGGAGCGGCAGCTGCA	0.687000													4	22					0	0	0.000602	0	0
IMP4	92856	broad.mit.edu	37	2	131102212	131102212	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:131102212G>T	ENST00000259239.3	+	3	831	c.123G>T	c.(121-123)ctG>ctT	p.L41L	IMP4_ENST00000409935.1_Silent_p.L41L	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	41	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	p.L41L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AAAACCGCCTGATTCCCACTG	0.537000													40	53					2.35958e-20	3.37084e-20	0.009718	1	0
GBA2	57704	broad.mit.edu	37	9	35738882	35738882	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:35738882C>T	ENST00000378094.4	-	12	2327	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	GBA2_ENST00000378103.3_Missense_Mutation_p.R605H|GBA2_ENST00000545786.1_Missense_Mutation_p.R611H|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	605					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	p.R605H(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCATTGACGCGGAGCCATGG	0.498000													5	67					0	0	0.000602	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076490	57076490	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:57076490T>A	ENST00000532437.1	-	5	4006	c.3695A>T	c.(3694-3696)aAt>aTt	p.N1232I	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.N1232I			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1232	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.N1232I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTCTTCACATTAACATCAGA	0.582000													38	199					0	0	0.006999	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938383	2938383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:2938383C>T	ENST00000378404.2	+	1	338	c.133C>T	c.(133-135)Cag>Tag	p.Q45*		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	45						cytoplasm|cytoskeleton		p.Q45*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCTGAAATTCCAGGCTCCCTC	0.597000													4	28					0	0	0.009096	0	0
TOLLIP	54472	broad.mit.edu	37	11	1316878	1316878	+	Silent	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:1316878T>C	ENST00000317204.6	-	2	303	c.180A>G	c.(178-180)gtA>gtG	p.V60V	TOLLIP_ENST00000527938.1_Silent_p.V60V|TOLLIP_ENST00000527886.1_5'UTR|TOLLIP_ENST00000542915.1_Intron|TOLLIP_ENST00000525159.1_Silent_p.V60V|TOLLIP_ENST00000263646.7_Silent_p.V32V	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	60	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	p.V60V(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGCCCACCTGTACCACCGTGA	0.667000													25	54					0	0	0.003954	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303151	7303151	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:7303151A>G	ENST00000537408.1	+	14	2831	c.2293A>G	c.(2293-2295)Atc>Gtc	p.I765V	CLSTN3_ENST00000266546.6_Missense_Mutation_p.I753V			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	753					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.I753V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGTGGAGAGCATCACTGTGTA	0.612000													24	40					0	0	0.003954	0	0
MYT1L	23040	broad.mit.edu	37	2	1915812	1915812	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:1915812G>A	ENST00000399161.2	-	12	2436	c.1689C>T	c.(1687-1689)agC>agT	p.S563S	MYT1L_ENST00000428368.2_Silent_p.S561S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	563					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S563S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGTTCCTGTTGCTGTTGACAT	0.622000													8	34					0	0	0.003080	0	0
LAMB1	3912	broad.mit.edu	37	7	107591767	107591767	+	Splice_Site	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:107591767A>G	ENST00000393561.1	-	22	3551	c.3366_splice	c.e22-1	p.F1123_splice	LAMB1_ENST00000222399.6_Splice_Site_p.F1099_splice			P07942	LAMB1_HUMAN	laminin, beta 1	1099	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.F1099L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCCCGTGAACTGCGGCCAG	0.567000													6	32					0	0	0.001168	0	0
RGPD3	653489	broad.mit.edu	37	2	107041547	107041547	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:107041547C>G	ENST00000409886.3	-	20	2963	c.2876G>C	c.(2875-2877)cGt>cCt	p.R959P	RGPD3_ENST00000304514.7_Missense_Mutation_p.R959P	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	959					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATCACACCACGGCCCTTCTT	0.413000													6	429					0	0	0.001168	0	0
DOC2A	8448	broad.mit.edu	37	16	30021433	30021433	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:30021433G>T	ENST00000350119.4	-	2	301	c.111C>A	c.(109-111)ccC>ccA	p.P37P	DOC2A_ENST00000564944.1_Silent_p.P37P|DOC2A_ENST00000564979.1_Silent_p.P37P	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	37	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	p.P37P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CTGGTCCCCGGGGGAAGTAGT	0.716000													23	36					1.50039e-11	1.86965e-11	0.012319	1	0
CPED1	79974	broad.mit.edu	37	7	120655845	120655845	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:120655845G>A	ENST00000310396.5	+	3	843	c.376G>A	c.(376-378)Gtt>Att	p.V126I	CPED1_ENST00000450913.2_Missense_Mutation_p.V126I|CPED1_ENST00000340646.5_Missense_Mutation_p.V126I|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.V126I(1)									TGGCTATACGGTTGTCATCGC	0.498000													7	29					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100684160	100684160	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.478000													6	605					0	0	0.001984	0	0
LOC645166	645166	broad.mit.edu	37	1	148932821	148932821	+	RNA	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:148932821C>T	ENST00000539543.1	+	0	77					NR_027355.1																						CCCGCCAGGCCTCCATAGAGC	0.602000													9	180					0	0	0.004007	0	0
KRT74	121391	broad.mit.edu	37	12	52962032	52962032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:52962032G>A	ENST00000549343.1	-	8	1356	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	KRT74_ENST00000305620.2_Nonsense_Mutation_p.Q426*			Q7RTS7	K2C74_HUMAN	keratin 74	426	Coil 2.|Rod.					keratin filament	structural molecule activity	p.Q426*(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATGAGCTCCTGGTACTCGCGC	0.642000													26	63					0	0	0.003954	0	0
ALMS1	7840	broad.mit.edu	37	2	73677420	73677420	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:73677420A>T	ENST00000264448.6	+	8	3874	c.3763A>T	c.(3763-3765)Aat>Tat	p.N1255Y	ALMS1_ENST00000409009.1_Missense_Mutation_p.N1213Y|ALMS1_ENST00000377715.1_Missense_Mutation_p.N1255Y	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1255	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.N1255Y(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTGCCAGATAATCATCCAAC	0.473000													50	143					0	0	0.014410	0	0
CPXM1	56265	broad.mit.edu	37	20	2778833	2778833	+	Silent	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr20:2778833C>A	ENST00000380605.2	-	4	619	c.555G>T	c.(553-555)tcG>tcT	p.S185S		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	185	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.S185S(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGATAACACCCGAGAAGCGGG	0.617000													5	88					0.000602214	0.000640654	0.000602	1	0
TTN	7273	broad.mit.edu	37	2	179603970	179603970	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:179603970C>G	ENST00000589042.1	-	48	14214	c.13990G>C	c.(13990-13992)Gac>Cac	p.D4664H	TTN_ENST00000359218.5_Missense_Mutation_p.D4426H|TTN_ENST00000591111.1_Missense_Mutation_p.D4347H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D4301H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D4493H|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4347	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D4426H(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)			TTTACTTTGTCGATGACTAGC	0.378000													4	37					0	0	0.000602	0	0
ZAN	7455	broad.mit.edu	37	7	100395402	100395402	+	RNA	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:100395402A>G	ENST00000542585.1	+	0	8697				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAATAAATTTATATAtttatt	0.453000													8	19					0	0	0.004482	0	0
CDH8	1006	broad.mit.edu	37	16	61689618	61689618	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:61689618G>T	ENST00000577390.1	-	11	2616	c.1662C>A	c.(1660-1662)tcC>tcA	p.S554S	CDH8_ENST00000299345.6_Silent_p.S554S|CDH8_ENST00000577730.1_Silent_p.S554S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	554	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S554S(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AAATACTGAGGGAATTATCTG	0.343000													9	37					0.00448238	0.00469359	0.004482	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260394	30260394	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:30260394G>A	ENST00000378982.2	+	1	338	c.142G>A	c.(142-144)Gat>Aat	p.D48N		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	48								p.D48N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGTTTTGAGGGATACTGCCTC	0.562000													17	9					0	0	0.004007	0	0
AK5	26289	broad.mit.edu	37	1	77759535	77759535	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:77759535A>G	ENST00000344720.5	+	3	1253	c.227A>G	c.(226-228)cAt>cGt	p.H76R	AK5_ENST00000354567.2_Missense_Mutation_p.H102R|AK5_ENST00000317704.4_Intron	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	102					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.H102R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCTCCAATCCATCAATTCTCC	0.413000													3	85					0	0	0.009096	0	0
F13A1	2162	broad.mit.edu	37	6	6266993	6266993	+	Silent	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:6266993G>C	ENST00000264870.3	-	4	634	c.369C>G	c.(367-369)gtC>gtG	p.V123V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	123					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.V123V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTAACTCTGAGACTATAGGCA	0.483000													10	122					0	0	0.006214	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749241	25749241	+	RNA	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:25749241G>A	ENST00000586223.1	+	0	1142					NR_033892.1																						TGAACATTCAGGAAATCAAGA	0.498000													25	25					0	0	0.004656	0	0
OR51I2	390064	broad.mit.edu	37	11	5475230	5475230	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:5475230C>A	ENST00000341449.2	+	1	593	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171Y(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTGCAGATCCAATGTTCTT	0.463000													62	63					2.53126e-37	3.86452e-37	0.014410	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58006846	58006846	+	Silent	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:58006846C>G	ENST00000286494.4	+	2	691	c.231C>G	c.(229-231)ggC>ggG	p.G77G	ARHGEF25_ENST00000333972.7_Silent_p.G116G|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	77					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.G77G(1)|p.G116G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCGTCAGTGGCCTGAGGAGAT	0.627000													15	33					0	0	0.002450	0	0
OR8J1	219477	broad.mit.edu	37	11	56128574	56128574	+	Silent	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:56128574T>A	ENST00000303039.3	+	1	884	c.852T>A	c.(850-852)ccT>ccA	p.P284P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(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)					TGGTAATTCCTATGCTGAATC	0.393000													44	54					0	0	0.009718	0	0
MPPED1	758	broad.mit.edu	37	22	43870629	43870629	+	Nonsense_Mutation	SNP	C	C	G	rs139800936	by1000genomes	TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr22:43870629C>G	ENST00000417669.1	+	4	864	c.420C>G	c.(418-420)taC>taG	p.Y140*	MPPED1_ENST00000414469.2_Nonsense_Mutation_p.Y34*|MPPED1_ENST00000443721.1_Nonsense_Mutation_p.Y140*|MPPED1_ENST00000538182.1_Nonsense_Mutation_p.Y173*|MPPED1_ENST00000542779.1_Nonsense_Mutation_p.Y140*|MPPED1_ENST00000439548.1_5'UTR			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	140							hydrolase activity	p.Y140*(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCTGCCCTACGAGTACAAGA	0.582000													60	31					0	0	0.014410	0	0
CUL3	8452	broad.mit.edu	37	2	225362561	225362561	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:225362561T>C	ENST00000264414.4	-	12	1954	c.1616A>G	c.(1615-1617)tAc>tGc	p.Y539C	CUL3_ENST00000409777.1_Missense_Mutation_p.Y515C|CUL3_ENST00000344951.4_Missense_Mutation_p.Y473C|CUL3_ENST00000409096.1_Missense_Mutation_p.Y515C	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	539					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.Y539C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTGGCTAAGTAGAACCTTCA	0.363000													13	51					0	0	0.002450	0	0
BTF3	689	broad.mit.edu	37	5	72798404	72798404	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:72798404A>G	ENST00000380591.3	+	3	512	c.293A>G	c.(292-294)aAc>aGc	p.N98S	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.N54S	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	98	NAC-A/B.			Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding	p.N98S(1)		endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		TTAGGGGTAAACAATATCTCT	0.363000													10	25					0	0	0.006214	0	0
NEB	4703	broad.mit.edu	37	2	152521927	152521927	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:152521927G>T	ENST00000397345.3	-	42	5360	c.5158C>A	c.(5158-5160)Ccc>Acc	p.P1720T	NEB_ENST00000409198.1_Missense_Mutation_p.P1720T|NEB_ENST00000427231.2_Missense_Mutation_p.P1720T|NEB_ENST00000603639.1_Missense_Mutation_p.P1720T|NEB_ENST00000172853.10_Missense_Mutation_p.P1720T|NEB_ENST00000604864.1_Missense_Mutation_p.P1720T	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1720					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.P1720T(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTTCTCGGGGTGCTGGCGA	0.502000													20	22					7.45023e-12	9.49073e-12	0.010504	1	0
KIAA0754	643314	broad.mit.edu	37	1	39876924	39876924	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:39876924G>T	ENST00000530275.1	+	1	774	c.579G>T	c.(577-579)atG>atT	p.M193I	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	193										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGGATTATGATGGAGGCTG	0.458000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	57					2.42023e-17	3.3498e-17	0.003271	1	0
SGCA	6442	broad.mit.edu	37	17	48244787	48244787	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:48244787G>A	ENST00000262018.3	+	2	132	c.96G>A	c.(94-96)gtG>gtA	p.V32V	SGCA_ENST00000451235.2_5'UTR|SGCA_ENST00000344627.6_Silent_p.V32V|SGCA_ENST00000543315.1_Silent_p.V32V|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	32					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.V32V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACCCACTTGTGGGCCGTGTCT	0.647000													19	64					0	0	0.010504	0	0
ROBO4	54538	broad.mit.edu	37	11	124763789	124763789	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:124763789G>A	ENST00000306534.3	-	9	1956	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R346C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	491					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R491C(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CGGCGCCGGCGGTGGATACAC	0.647000													3	21					0	0	0.004672	0	0
CCNH	902	broad.mit.edu	37	5	86703889	86703889	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:86703889T>C	ENST00000508855.1	-	3	259	c.207A>G	c.(205-207)atA>atG	p.I69M	CCNH_ENST00000513499.1_Intron|CCNH_ENST00000504878.1_Missense_Mutation_p.I69M|CCNH_ENST00000256897.4_Missense_Mutation_p.I143M			P51946	CCNH_HUMAN	cyclin H	143					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	p.I143M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CATATTCCAGTATCTGTTCAA	0.413000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					15	50					0	0	0.002450	0	0
BTNL8	79908	broad.mit.edu	37	5	180335652	180335652	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:180335652C>G	ENST00000231229.4	+	2	350	c.116C>G	c.(115-117)tCc>tGc	p.S39C	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.S39C|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.S39C	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	39	Ig-like V-type 1.					integral to membrane		p.S39C(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCATTCTCCTGTTTCCTG	0.552000													26	68					0	0	0.005443	0	0
HLA-C	3107	broad.mit.edu	37	6	31239513	31239513	+	Missense_Mutation	SNP	C	C	T	rs41548913		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:31239513C>T	ENST00000383329.3	-	2	220	c.206G>A	c.(205-207)gGg>gAg	p.G69E	HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		p.G69E(5)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCGCGGCTCCCCTCTCGGACT	0.697000													4	70					0	0	0.008291	0	0
SEMA4A	64218	broad.mit.edu	37	1	156126240	156126240	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:156126240A>G	ENST00000368285.3	+	3	442	c.175A>G	c.(175-177)Aag>Gag	p.K59E	SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.K59E|SEMA4A_ENST00000355014.2_Missense_Mutation_p.K59E|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000487358.1_3'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	59	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.K59E(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CTTCCACCAGAAGGGCCTCCA	0.537000													38	46					0	0	0.008740	0	0
FOLH1	2346	broad.mit.edu	37	11	49170214	49170214	+	Silent	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:49170214C>A	ENST00000340334.7	-	19	2363	c.1995G>T	c.(1993-1995)ggG>ggT	p.G665G	FOLH1_ENST00000256999.2_Silent_p.G680G|FOLH1_ENST00000533034.1_Intron|FOLH1_ENST00000356696.3_Intron|FOLH1_ENST00000343844.4_Silent_p.G372G	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	680					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G680G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTCTGGTAACCCTAATGGAT	0.284000													10	39					7.48243e-07	8.40722e-07	0.006214	1	0
ODC1	4953	broad.mit.edu	37	2	10583844	10583844	+	Missense_Mutation	SNP	C	C	T	rs116522452	by1000genomes	TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:10583844C>T	ENST00000234111.4	-	6	1078	c.568G>A	c.(568-570)Gat>Aat	p.D190N	ODC1_ENST00000405333.1_Missense_Mutation_p.D190N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	190					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	p.D190N(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CCAACAACATCGATATTTAGC	0.448000													36	133					0	0	0.004878	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552078	178552078	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:178552078G>C	ENST00000251582.7	-	19	2955	c.2854C>G	c.(2854-2856)Cgc>Ggc	p.R952G		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	952	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R952G(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCACGGAGCGGGTGGTGTTG	0.697000													13	87					0	0	0.003163	0	0
RGL2	5863	broad.mit.edu	37	6	33264242	33264242	+	Splice_Site	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:33264242C>A	ENST00000497454.1	-	5	915		c.e5-1		PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_Splice_Site|RGL2_ENST00000444031.2_Splice_Site	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2						Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.?(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGCTTCCAGCCTGAGGGGGAG	0.517000													47	52					4.18559e-23	6.08813e-23	0.014410	1	0
SYDE2	84144	broad.mit.edu	37	1	85634849	85634849	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:85634849C>G	ENST00000341460.5	-	5	2780	c.2731G>C	c.(2731-2733)Gag>Cag	p.E911Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	911	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.E911Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATACAGCCTCATAAAGCTGC	0.403000													53	111					0	0	0.014410	0	0
PTPRN2	5799	broad.mit.edu	37	7	158334236	158334236	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:158334236C>A	ENST00000404321.2	-	1	62	c.63G>T	c.(61-63)atG>atT	p.M21I	PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389418.4_Intron|PTPRN2_ENST00000409483.1_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	0						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCACACAGAACATCTTCATAG	0.517000													41	56					3.61848e-18	5.05269e-18	0.007835	1	0
KIF6	221458	broad.mit.edu	37	6	39513450	39513450	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:39513450A>T	ENST00000287152.7	-	11	1290	c.1196T>A	c.(1195-1197)aTa>aAa	p.I399K	KIF6_ENST00000538893.1_Missense_Mutation_p.I399K|KIF6_ENST00000373215.3_Missense_Mutation_p.I399K|KIF6_ENST00000373213.4_Missense_Mutation_p.I238K|KIF6_ENST00000373216.3_Missense_Mutation_p.I399K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	399					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.I399K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAAGGATGTTATTAGTTTTTC	0.338000													5	78					0	0	0.001168	0	0
SLC39A4	55630	broad.mit.edu	37	8	145642092	145642092	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:145642092G>T	ENST00000301305.3	-	1	187	c.82C>A	c.(82-84)Ctg>Atg	p.L28M		NM_130849.2	NP_570901.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	28						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	p.L28M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			AGGCTCAGCAGACCAGCAGGC	0.677000													3	27					0.00909568	0.00942558	0.009096	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900057	112900057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:112900057C>T	ENST00000374530.3	+	8	2413	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	AKAP2_ENST00000259318.7_Nonsense_Mutation_p.Q514*|AKAP2_ENST00000555236.1_Nonsense_Mutation_p.Q745*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.Q603*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.Q745*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.Q745*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.Q603*	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		514							enzyme binding	p.Q745*(1)|p.Q603*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CAATGCCCTCCAGGAAAATTC	0.512000													47	37					0	0	0.010771	0	0
OR5T2	219464	broad.mit.edu	37	11	55999849	55999849	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:55999849T>G	ENST00000313264.4	-	1	888	c.813A>C	c.(811-813)gaA>gaC	p.E271D		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E271D(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTCTCCTCCCTTCAGCAGAAT	0.438000													40	71					0	0	0.010771	0	0
CSMD1	64478	broad.mit.edu	37	8	2949101	2949101	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:2949101A>T	ENST00000602557.1	-	49	7780	c.7225T>A	c.(7225-7227)Tta>Ata	p.L2409I	CSMD1_ENST00000602723.1_Missense_Mutation_p.L2409I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2409I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2408I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2408I|CSMD1_ENST00000520002.1_Missense_Mutation_p.L2409I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2409	CUB 14.					integral to membrane		p.L2137I(1)|p.L2408I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGGAGATATAACTGATTACTC	0.378000													6	42					0	0	0.001168	0	0
CD209	30835	broad.mit.edu	37	19	7810548	7810548	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:7810548C>G	ENST00000315599.7	-	4	626	c.604G>C	c.(604-606)Gca>Cca	p.A202P	CD209_ENST00000301357.8_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.A178P|CD209_ENST00000315591.8_Missense_Mutation_p.A178P|CD209_ENST00000601256.1_Missense_Mutation_p.A178P|CD209_ENST00000601951.1_Missense_Mutation_p.A178P|CD209_ENST00000204801.8_Missense_Mutation_p.A158P|CD209_ENST00000354397.6_Missense_Mutation_p.A202P|CD209_ENST00000394173.4_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	202	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A202P(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCACCCACTGCAGCCTTCAGC	0.557000													57	98					0	0	0.014410	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358738	16358738	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:16358738G>T	ENST00000375692.1	+	18	1925	c.1797G>T	c.(1795-1797)ctG>ctT	p.L599L	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Silent_p.L599L|CLCNKA_ENST00000439316.2_Silent_p.L556L|CLCNKA_ENST00000420078.1_Silent_p.L599L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	599	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L599L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGGCCCAGCTGGTGCAGGCCC	0.642000													8	55					0.000157383	0.000170144	0.003080	1	0
ATP13A4	84239	broad.mit.edu	37	3	193210950	193210950	+	Splice_Site	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:193210950C>A	ENST00000342695.4	-	4	704		c.e4-1		ATP13A4_ENST00000392443.3_Splice_Site|ATP13A4_ENST00000295548.3_Splice_Site	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.?(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGCATCTCACCTGCAAAAGAA	0.358000													18	40					6.94344e-10	8.39087e-10	0.006122	1	0
ZNF350	59348	broad.mit.edu	37	19	52468138	52468138	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:52468138T>C	ENST00000243644.4	-	5	1795	c.1568A>G	c.(1567-1569)tAt>tGt	p.Y523C	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	523					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	p.Y523C(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AAATAAGACATAATTGATCAC	0.413000													13	55					0	0	0.013537	0	0
ZNF318	24149	broad.mit.edu	37	6	43323188	43323188	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:43323188G>A	ENST00000361428.2	-	4	1961	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	ZNF318_ENST00000318149.3_Silent_p.S628S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	628					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.S628S(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGTCAGCTGAGGAGCGTAATG	0.522000													106	95					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113256788	113256788	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:113256788G>T	ENST00000297405.5	-	65	10481	c.10237C>A	c.(10237-10239)Cag>Aag	p.Q3413K	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3343K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3244K|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3373K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3413	Sushi 28.					integral to membrane|plasma membrane		p.Q3413K(1)|p.Q3373K(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						GTTTCTGGCTGTTTACAGCTG	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	34					0.000219431	0.000236584	0.002450	1	0
RYR3	6263	broad.mit.edu	37	15	34140553	34140553	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr15:34140553T>C	ENST00000389232.4	+	94	13629	c.13559T>C	c.(13558-13560)cTa>cCa	p.L4520P	RYR3_ENST00000415757.3_Missense_Mutation_p.L4515P|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4520					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L4519P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTGATGGCCTATATATCACC	0.502000													3	77					0	0	0.004672	0	0
NETO1	81832	broad.mit.edu	37	18	70526210	70526210	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr18:70526210G>A	ENST00000327305.6	-	4	977	c.320C>T	c.(319-321)cCt>cTt	p.P107L	NETO1_ENST00000583169.1_Missense_Mutation_p.P107L|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.P106L|NETO1_ENST00000299430.2_Missense_Mutation_p.P106L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	107	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.P106L(1)|p.P107L(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAAGCCAAAAGGTCCATCTCG	0.378000													22	67					0	0	0.010504	0	0
RARS2	57038	broad.mit.edu	37	6	88229941	88229941	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:88229941C>G	ENST00000369536.5	-	13	1114	c.1069G>C	c.(1069-1071)Gta>Cta	p.V357L		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	357					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.V357L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATTTGGAATACTTGCTGAAAA	0.343000													9	163					0	0	0.008291	0	0
MUC17	140453	broad.mit.edu	37	7	100685025	100685025	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:100685025C>T	ENST00000306151.4	+	3	10392	c.10328C>T	c.(10327-10329)gCt>gTt	p.A3443V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3443	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A3443V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTACAATCGCTGAAGGTACC	0.507000													96	416					0	0	0.014410	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991905	52991905	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:52991905C>T	ENST00000371544.3	-	2	310	c.48G>A	c.(46-48)aaG>aaA	p.K16K	ZCCHC11_ENST00000355809.4_Silent_p.K16K|ZCCHC11_ENST00000257177.4_Silent_p.K16K	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	16					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.K16K(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAATAACATTCTTCTTTGGTT	0.303000													13	32					0	0	0.001855	0	0
KLHL38	340359	broad.mit.edu	37	8	124658213	124658213	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:124658213A>T	ENST00000325995.7	-	3	1535	c.1512T>A	c.(1510-1512)tgT>tgA	p.C504*	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	504			C -> Y (in dbSNP:rs11779866).					p.C504*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCATGTCCGCACATTTGACAA	0.512000													6	80					0	0	0.001168	0	0
KDM1A	23028	broad.mit.edu	37	1	23409697	23409697	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:23409697G>A	ENST00000400181.4	+	21	2575	c.2471G>A	c.(2470-2472)gGa>gAa	p.G824E	KDM1A_ENST00000356634.3_Missense_Mutation_p.G800E|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Missense_Mutation_p.G824E	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	800	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	p.G824E(1)|p.G800E(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTTTGCGGGAGAACATACG	0.473000													8	70					0	0	0.004482	0	0
ALDOA	226	broad.mit.edu	37	16	30080144	30080144	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:30080144G>C	ENST00000566897.1	+	8	1537	c.385G>C	c.(385-387)Gat>Cat	p.D129H	ALDOA_ENST00000395248.1_Missense_Mutation_p.D183H|ALDOA_ENST00000563060.2_Missense_Mutation_p.D129H|ALDOA_ENST00000412304.2_Missense_Mutation_p.D129H|ALDOA_ENST00000564595.2_Missense_Mutation_p.D183H|ALDOA_ENST00000569798.1_Missense_Mutation_p.D129H|ALDOA_ENST00000569545.1_Missense_Mutation_p.D129H|ALDOA_ENST00000338110.5_Missense_Mutation_p.D129H|ALDOA_ENST00000564546.1_Missense_Mutation_p.D129H|ALDOA_ENST00000395240.3_Missense_Mutation_p.D129H			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	129			D -> G (in GSD12; thermolabile).		actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	p.D129H(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CTTAGGGTTGGATGGGCTGTC	0.597000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	87					0	0	0.002450	0	0
C7	730	broad.mit.edu	37	5	40976868	40976868	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:40976868G>T	ENST00000313164.9	+	16	2450	c.2091G>T	c.(2089-2091)caG>caT	p.Q697H	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	697	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.Q697H(1)					Ovarian(839;0.0112)				CGTTAACACAGGCAGTGCCTA	0.428000													3	29					6.4e-05	6.97548e-05	0.004672	1	0
GPBP1L1	60313	broad.mit.edu	37	1	46120260	46120260	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:46120260C>A	ENST00000355105.3	-	6	1792	c.432G>T	c.(430-432)aaG>aaT	p.K144N	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.K144N	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.K144N(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TGTCTTCTTTCTTTTCTTCCC	0.438000													19	98					2.94398e-08	3.39364e-08	0.007413	1	0
C1orf141	400757	broad.mit.edu	37	1	67592863	67592863	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:67592863C>A	ENST00000371007.2	-	3	170	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	C1orf141_ENST00000544837.1_Missense_Mutation_p.A21S|C1orf141_ENST00000371006.1_Missense_Mutation_p.A21S	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	21								p.A21S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GTTCTTCTGGCCAAGATTATC	0.313000													28	108					1.62565e-12	2.09086e-12	0.012213	1	0
BCL11B	64919	broad.mit.edu	37	14	99641943	99641943	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:99641943C>T	ENST00000345514.2	-	3	1283	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	BCL11B_ENST00000357195.3_Silent_p.P410P|BCL11B_ENST00000443726.2_Silent_p.P216P	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	410						nucleus	zinc ion binding	p.P410P(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGGCATGGGCGGCAGCGGCG	0.706000			T	TLX3	T-ALL								4	23					0	0	0.009096	0	0
SPEM1	374768	broad.mit.edu	37	17	7324850	7324850	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:7324850C>A	ENST00000323675.3	+	3	881	c.856C>A	c.(856-858)Ccc>Acc	p.P286T	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	286					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.P286T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CGGCTGCTACCCCCTAGCCTC	0.592000													22	18					5.26018e-13	6.87605e-13	0.012319	1	0
PALD1	27143	broad.mit.edu	37	10	72300887	72300887	+	Silent	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr10:72300887G>T	ENST00000263563.6	+	16	2206	c.1938G>T	c.(1936-1938)cgG>cgT	p.R646R		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.R646R(1)									AGGCCCTGCGGGCCGCCCTCT	0.637000											OREG0020239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	90					1.02687e-29	1.55586e-29	0.013114	1	0
KIF4B	285643	broad.mit.edu	37	5	154396412	154396412	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:154396412A>T	ENST00000435029.4	+	1	3153	c.2993A>T	c.(2992-2994)cAg>cTg	p.Q998L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	998	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.Q998L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCCTCCTCCAGGTAGCCAGC	0.423000													34	79					0	0	0.013726	0	0
SMC1A	8243	broad.mit.edu	37	X	53409448	53409448	+	Silent	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chrX:53409448C>A	ENST00000322213.4	-	21	3391	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1088					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.L1088L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TATTGCGGGACAGGGCCTTAT	0.522000													11	9					0.000673444	0.000714529	0.008291	1	0
ATP8B1	5205	broad.mit.edu	37	18	55315736	55315736	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr18:55315736C>A	ENST00000536015.1	-	28	3859	c.3740G>T	c.(3739-3741)cGc>cTc	p.R1247L	ATP8B1_ENST00000283684.4_Missense_Mutation_p.R1247L|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1247					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R1247L(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTCCCCGGTGCGCCTGTACTC	0.607000													20	40					6.44725e-10	7.81485e-10	0.014323	1	0
AGRN	375790	broad.mit.edu	37	1	978964	978964	+	Silent	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:978964C>G	ENST00000379370.2	+	9	1700	c.1650C>G	c.(1648-1650)acC>acG	p.T550T		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	550	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.T550T(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGGCCGAGACCGGGCGCTGCG	0.692000													13	40					0	0	0.002450	0	0
ATP13A4	84239	broad.mit.edu	37	3	193188773	193188773	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:193188773T>A	ENST00000342695.4	-	9	1140	c.818A>T	c.(817-819)cAa>cTa	p.Q273L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q273L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.Q273L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	273					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.Q273L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCCAGCTCTTGAACTCCAGC	0.423000													44	137					0	0	0.014410	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38189081	38189081	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:38189081C>T	ENST00000317025.8	-	5	1450	c.933G>A	c.(931-933)caG>caA	p.Q311Q	WHSC1L1_ENST00000316985.3_Silent_p.Q311Q|WHSC1L1_ENST00000527502.1_Silent_p.Q311Q|WHSC1L1_ENST00000433384.2_Silent_p.Q311Q	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	311	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	p.Q311Q(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTAAAAAACTGGACATGAT	0.403000			T	NUP98	AML								10	659					0	0	0.006214	0	0
NBAS	51594	broad.mit.edu	37	2	15701345	15701345	+	Silent	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:15701345G>C	ENST00000281513.5	-	1	109	c.84C>G	c.(82-84)gtC>gtG	p.V28V	NBAS_ENST00000441750.1_Silent_p.V28V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	28								p.V28V(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTCGGTGTTGACCAACAAGT	0.622000													6	175					0	0	0.001168	0	0
DCDC1	341019	broad.mit.edu	37	11	31327171	31327171	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:31327171T>C	ENST00000597505.1	-	4	744	c.745A>G	c.(745-747)Aaa>Gaa	p.K249E	DCDC1_ENST00000452803.1_Missense_Mutation_p.K249E			P59894	DCDC1_HUMAN	doublecortin domain containing 1	249	Doublecortin.				intracellular signal transduction			p.K249E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTTTAATTTTTTTGAATGGA	0.383000													37	90					0	0	0.006230	0	0
CSMD3	114788	broad.mit.edu	37	8	113363403	113363403	+	Splice_Site	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:113363403C>T	ENST00000297405.5	-	40	6570		c.e40+1		CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane		p.?(4)		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						TTTTAACTTACCTAAACAAAT	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	95					0	0	0.005443	0	0
ZNF304	57343	broad.mit.edu	37	19	57868288	57868288	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:57868288G>T	ENST00000391705.3	+	4	1335	c.1051G>T	c.(1051-1053)Gtt>Ttt	p.V351F	ZNF304_ENST00000598744.1_Missense_Mutation_p.V309F|ZNF304_ENST00000443917.2_Missense_Mutation_p.V398F|ZNF304_ENST00000282286.5_Missense_Mutation_p.V351F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V351F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTCCCACCTTGTTCAGCACCA	0.463000													27	49					1.33986e-20	1.92095e-20	0.004656	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17698928	17698928	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:17698928C>G	ENST00000399080.2	-	1	778	c.755G>C	c.(754-756)aGa>aCa	p.R252T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	252								p.R252T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCGCTATCTCTAAAATAGCT	0.338000													12	93					0	0	0.013537	0	0
CSMD3	114788	broad.mit.edu	37	8	113323386	113323386	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:113323386C>T	ENST00000297405.5	-	50	7950	c.7706G>A	c.(7705-7707)tGt>tAt	p.C2569Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.C2499Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2465Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.C2529Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2569	Sushi 14.					integral to membrane|plasma membrane		p.C2529Y(1)|p.C2569Y(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						TGGTGTACTACAGTAGAAAGC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	47					0	0	0.002780	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197888	204197888	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:204197888C>T	ENST00000272203.3	-	20	3169	c.2853G>A	c.(2851-2853)gtG>gtA	p.V951V	PLEKHA6_ENST00000414478.1_Silent_p.V971V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	951								p.V951V(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGATCCTCTCCACCTTCTTCT	0.552000													11	87					0	0	0.013537	0	0
DCC	1630	broad.mit.edu	37	18	51025817	51025817	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr18:51025817C>A	ENST00000442544.2	+	27	4664	c.4048C>A	c.(4048-4050)Cta>Ata	p.L1350I	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.L983I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1350					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.L1350I(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TAATCCTTTGCTACCTCCACC	0.483000													72	109					5.94106e-25	8.80157e-25	0.014410	1	0
FAT4	79633	broad.mit.edu	37	4	126412622	126412622	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr4:126412622A>G	ENST00000394329.3	+	17	14658	c.14645A>G	c.(14644-14646)gAt>gGt	p.D4882G	FAT4_ENST00000335110.5_Missense_Mutation_p.D3123G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4882					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D4825G(1)|p.D4882G(1)		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						GATGATGAAGATAATTATGGA	0.502000													3	45					0	0	0.004672	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978639	148978639	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:148978639G>T	ENST00000434415.1	+	6	1009	c.846G>T	c.(844-846)gaG>gaT	p.E282D	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	282					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E282D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CTGAAGACGAGATGACGCCTG	0.622000													28	45					7.01153e-11	8.62958e-11	0.007291	1	0
DST	667	broad.mit.edu	37	6	56485224	56485224	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:56485224A>G	ENST00000370765.6	-	23	3715	c.3608T>C	c.(3607-3609)aTt>aCt	p.I1203T	DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1544					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.I1203T(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCTCACAATGGTTTCAAG	0.498000													18	87					0	0	0.006122	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988167	135988167	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:135988167C>G	ENST00000401392.1	-	13	2082	c.1870G>C	c.(1870-1872)Ggc>Cgc	p.G624R	ZRANB3_ENST00000264159.6_Missense_Mutation_p.G624R|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.G624R			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	624						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.G89R(1)|p.G624R(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CATTGCCAGCCCTCTACAGGA	0.488000													15	68					0	0	0.002450	0	0
OR2G6	391211	broad.mit.edu	37	1	248685829	248685829	+	Missense_Mutation	SNP	C	C	A	rs139958354	by1000genomes	TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:248685829C>A	ENST00000343414.4	+	1	914	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N294K(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTGAGAAACAAAGATGTGA	0.443000													41	56					6.1244e-12	7.82671e-12	0.007835	1	0
PXDN	7837	broad.mit.edu	37	2	1643180	1643180	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:1643180C>T	ENST00000252804.4	-	20	4017	c.3967G>A	c.(3967-3969)Ggg>Agg	p.G1323R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1323					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.G1323R(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTGAACTGCCCCCTGGTCCTA	0.483000													22	63					0	0	0.014323	0	0
STAT6	6778	broad.mit.edu	37	12	57501993	57501993	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:57501993G>A	ENST00000300134.3	-	2	394	c.69C>T	c.(67-69)ccC>ccT	p.P23P	STAT6_ENST00000538913.2_Intron|STAT6_ENST00000537215.2_Intron|STAT6_ENST00000454075.3_Silent_p.P23P|STAT6_ENST00000556155.1_Silent_p.P23P|STAT6_ENST00000543873.2_Silent_p.P23P	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	23					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P23P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCAGGTGTTGGGGAAAGTCGA	0.582000													4	26					0	0	0.000602	0	0
MAST1	22983	broad.mit.edu	37	19	12979910	12979910	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:12979910G>C	ENST00000251472.4	+	22	2843	c.2804G>C	c.(2803-2805)aGt>aCt	p.S935T		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	935					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S935T(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCCCTTGCTAGTCCCATGTCT	0.562000													12	60					0	0	0.002450	0	0
CFAP54	144535	broad.mit.edu	37	12	97078910	97078910	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:97078910A>C	ENST00000524981.3	+	9	1261	c.1261A>C	c.(1261-1263)Aac>Cac	p.N421H				Q6ZTY8	CL063_HUMAN		395								p.N395H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CAATGTCACCAACAGTCATTC	0.458000													19	42					0	0	0.007413	0	0
IQCE	23288	broad.mit.edu	37	7	2645525	2645525	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:2645525C>T	ENST00000402050.2	+	20	1943	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	IQCE_ENST00000404984.1_Missense_Mutation_p.R536C|IQCE_ENST00000325979.7_Missense_Mutation_p.R522C|IQCE_ENST00000438376.2_Missense_Mutation_p.R571C	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	587			R -> H (in dbSNP:rs10950797).					p.R587C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TCCTGTGCCCCGCGTTCCGAG	0.701000													3	23					0	0	0.004672	0	0
SI	6476	broad.mit.edu	37	3	164760926	164760926	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:164760926G>C	ENST00000264382.3	-	17	1987	c.1925C>G	c.(1924-1926)aCa>aGa	p.T642R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	642	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.T642R(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAGTTCTTCTGTGGTTTCAGC	0.368000										HNSCC(35;0.089)			26	28					0	0	0.005443	0	0
DGKB	1607	broad.mit.edu	37	7	14378177	14378177	+	Silent	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:14378177G>C	ENST00000403951.2	-	23	2507	c.2088C>G	c.(2086-2088)acC>acG	p.T696T	DGKB_ENST00000444700.2_Silent_p.T677T|DGKB_ENST00000402815.1_Silent_p.T695T|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.T696T|DGKB_ENST00000258767.5_Silent_p.T696T|DGKB_ENST00000407950.1_Silent_p.T688T|DGKB_ENST00000406247.3_Silent_p.T696T			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	696					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.T696T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CATCTGTGACGGTGGTCCTTT	0.393000													107	154					0	0	0.014410	0	0
ZNF431	170959	broad.mit.edu	37	19	21366254	21366254	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:21366254G>T	ENST00000311048.7	+	5	1292	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W383F(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GGCTTTAATTGGTCCTCAACC	0.348000													15	21					1.49906e-05	1.65186e-05	0.002450	1	0
RELN	5649	broad.mit.edu	37	7	103215998	103215998	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:103215998T>C	ENST00000424685.2	-	29	4459	c.4300A>G	c.(4300-4302)Act>Gct	p.T1434A	RELN_ENST00000428762.1_Missense_Mutation_p.T1434A|RELN_ENST00000343529.5_Missense_Mutation_p.T1434A			P78509	RELN_HUMAN	reelin	1434	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.T1434A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCTTACCAGTATATCCCAGG	0.403000													35	38					0	0	0.003755	0	0
COL6A3	1293	broad.mit.edu	37	2	238277679	238277679	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:238277679C>G	ENST00000295550.4	-	10	4879	c.4427G>C	c.(4426-4428)gGg>gCg	p.G1476A	COL6A3_ENST00000347401.3_Missense_Mutation_p.G1275A|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1270A|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1276A|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1270A|COL6A3_ENST00000472056.1_Missense_Mutation_p.G869A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1476	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G1476A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCACGACCCCAACTCTCAC	0.517000													5	37					0	0	0.001168	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113563456	113563456	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:113563456G>T	ENST00000358160.4	+	2	626	c.134G>T	c.(133-135)gGg>gTg	p.G45V	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	45						integral to membrane		p.G45V(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAAAAACAGGGGCCAAATTTA	0.358000													20	86					6.33239e-15	8.55728e-15	0.010504	1	0
ALK	238	broad.mit.edu	37	2	29551313	29551313	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:29551313G>A	ENST00000389048.3	-	6	2223	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	439	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S439S(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGTGAAGGAGCTCTGCAGGG	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				26	36					0	0	0.005443	0	0
HEMGN	55363	broad.mit.edu	37	9	100693073	100693073	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:100693073G>T	ENST00000259456.3	-	4	747	c.604C>A	c.(604-606)Cct>Act	p.P202T		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	202					cell differentiation|multicellular organismal development			p.P202T(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CATGTGTTAGGAGAGTTGTCT	0.383000													28	233					3.73808e-20	5.30224e-20	0.005443	1	0
OR7C1	26664	broad.mit.edu	37	19	14910285	14910285	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:14910285C>G	ENST00000248073.2	-	1	738	c.664G>C	c.(664-666)Gtt>Ctt	p.V222L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	222					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.V222L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ATAGAGAAAACAATTTTATAG	0.438000													5	43					0	0	0.000602	0	0
NTAN1	123803	broad.mit.edu	37	16	15141370	15141370	+	Silent	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:15141370G>A	ENST00000287706.3	-	4	380	c.288C>T	c.(286-288)acC>acT	p.T96T	PDXDC1_ENST00000535621.2_Intron	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	96						cytoplasm		p.T96T(1)		endometrium(1)|large_intestine(4)|lung(3)	8						CTTTGGTGTCGGTTCCGTCAC	0.507000													3	87					0	0	0.009096	0	0
ZNF613	79898	broad.mit.edu	37	19	52448120	52448120	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:52448120G>T	ENST00000293471.6	+	6	1663	c.984G>T	c.(982-984)agG>agT	p.R328S	ZNF613_ENST00000391794.4_Missense_Mutation_p.R292S	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R328S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCTCCAAAAGGTCCAGGCTCA	0.473000													20	62					0.00152264	0.00160701	0.010504	1	0
LPHN2	23266	broad.mit.edu	37	1	82408796	82408796	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:82408796G>A	ENST00000370728.1	+	8	1186	c.541G>A	c.(541-543)Gat>Aat	p.D181N	LPHN2_ENST00000319517.6_Missense_Mutation_p.D181N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D185N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D181N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D181N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D181N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D181N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D181N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D181N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.D181N			O95490	LPHN2_HUMAN	latrophilin 2	181	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D181N(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTATCGTACCGATACTTTAAT	0.393000													29	66					0	0	0.010818	0	0
C1orf173	127254	broad.mit.edu	37	1	75038834	75038834	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:75038834C>A	ENST00000326665.5	-	14	2778	c.2560G>T	c.(2560-2562)Ggg>Tgg	p.G854W	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	854	Glu-rich.							p.G854W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGACCCCCCTTCACCCAGC	0.527000													44	99					1.03325e-14	1.37766e-14	0.011902	1	0
SRCAP	10847	broad.mit.edu	37	16	30748760	30748760	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:30748760C>T	ENST00000262518.4	+	34	7784	c.7399C>T	c.(7399-7401)Ccc>Tcc	p.P2467S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2405S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2309S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2467	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2467S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			tgccccagtacccatttcagc	0.567000													4	17					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7574026	7574026	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:7574026C>A	ENST00000269305.4	-	10	1190	c.1001G>T	c.(1000-1002)gGg>gTg	p.G334V	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.G334V|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	334	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G334V(7)|p.I332fs*5(1)|p.?(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)		GCGCTCACGCCCACGGATCTG	0.522000		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)			26	19					1.17739e-12	1.52413e-12	0.005443	1	0
KIF19	124602	broad.mit.edu	37	17	72351374	72351374	+	Silent	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:72351374C>A	ENST00000389916.4	+	20	3058	c.2920C>A	c.(2920-2922)Cga>Aga	p.R974R		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	974			R -> Q (in dbSNP:rs9675190).		microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R974R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGGTGGTTCTCGACGGGCTAC	0.667000													13	56					2.27111e-07	2.5735e-07	0.013537	1	0
SLC39A3	29985	broad.mit.edu	37	19	2732928	2732928	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:2732928C>A	ENST00000269740.4	-	3	1095	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.V256L	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	256						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	p.V256L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		CTGCCCGGCACGCCCTGGGCG	0.697000													26	14					6.36457e-07	7.17135e-07	0.003954	1	0
MAD2L1BP	9587	broad.mit.edu	37	6	43607850	43607850	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:43607850C>T	ENST00000451025.2	+	4	711	c.501C>T	c.(499-501)ctC>ctT	p.L167L	MAD2L1BP_ENST00000372171.4_Silent_p.L135L	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	135					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding	p.L135L(1)		breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGAGTGTCCTCAGCCACCTGG	0.562000													14	52					0	0	0.001855	0	0
FSHR	2492	broad.mit.edu	37	2	49216143	49216143	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:49216143A>G	ENST00000406846.2	-	6	616	c.497T>C	c.(496-498)gTg>gCg	p.V166A	FSHR_ENST00000304421.4_Intron|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.V166A|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	166					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.V166A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCTCAGCCCCACGAAAGAATT	0.338000									Gonadal Dysgenesis, 46 XX				9	16					0	0	0.008291	0	0
WDR64	128025	broad.mit.edu	37	1	241946635	241946635	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:241946635T>A	ENST00000366552.2	+	22	2834	c.2627T>A	c.(2626-2628)gTa>gAa	p.V876E	WDR64_ENST00000437684.2_Missense_Mutation_p.V709E	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	876								p.V876E(1)|p.V429E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GTAATCTATGTAGAAGAAAAA	0.408000													8	44					0	0	0.003080	0	0
MFSD1	64747	broad.mit.edu	37	3	158527041	158527041	+	Silent	SNP	C	C	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr3:158527041C>T	ENST00000415822.2	+	6	802	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	MFSD1_ENST00000392813.4_Silent_p.L182L|MFSD1_ENST00000264266.8_Silent_p.L172L	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	172					transmembrane transport	integral to membrane		p.L172L(1)|p.L221L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAATTAAACCTGGTGTTTGG	0.353000													10	55					0	0	0.008291	0	0
OR4S1	256148	broad.mit.edu	37	11	48328205	48328205	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr11:48328205G>A	ENST00000319988.1	+	1	431	c.431G>A	c.(430-432)gGg>gAg	p.G144E		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G144E(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTGCTAGCGGGGGCCTCCTGG	0.562000													24	72					0	0	0.002780	0	0
CXCR2	3579	broad.mit.edu	37	2	219000278	219000278	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:219000278G>T	ENST00000318507.2	+	3	1181	c.754G>T	c.(754-756)Gtc>Ttc	p.V252F		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	252					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.V252F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGCCATGCGGGTCATCTTTGC	0.587000													41	175					1.8453e-21	2.66469e-21	0.010771	1	0
ASXL2	55252	broad.mit.edu	37	2	25966399	25966399	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:25966399T>C	ENST00000435504.4	-	13	3100	c.2807A>G	c.(2806-2808)aAt>aGt	p.N936S	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.N908S|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	936					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.N936S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGTCCATTCATGTTTAA	0.478000													111	279					0	0	0.014410	0	0
OSR1	130497	broad.mit.edu	37	2	19553013	19553013	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr2:19553013G>C	ENST00000536433.1	-	1	3664	c.554C>G	c.(553-555)aCc>aGc	p.T185S	OSR1_ENST00000272223.2_Missense_Mutation_p.T185S			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	185					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	p.T185S(1)		breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GTAGGACTTGGTGAAGTGGCG	0.562000													25	129					0	0	0.003330	0	0
PSKH2	85481	broad.mit.edu	37	8	87060894	87060894	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:87060894A>C	ENST00000276616.2	-	3	1029	c.955T>G	c.(955-957)Tgg>Ggg	p.W319G		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	319	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.W319G(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GTGATCACCCAGGGATGGTCC	0.552000													10	93					0	0	0.001855	0	0
ATP4A	495	broad.mit.edu	37	19	36044674	36044674	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:36044674G>A	ENST00000262623.3	-	17	2567	c.2539C>T	c.(2539-2541)Cca>Tca	p.P847S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	847					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.P847S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGGTTGCGTGGACGCAGGTGC	0.607000													4	17					0	0	0.009096	0	0
TIE1	7075	broad.mit.edu	37	1	43777704	43777705	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:43777704_43777705insA	ENST00000372476.3	+	11	1611_1612	c.1532_1533insA	c.(1531-1533)caafs	p.Q511fs	TIE1_ENST00000433781.2_Frame_Shift_Ins_p.Q156fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	511	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACCTGAGGCCAAAGACAGGAT	0.594													42	75	---	---	---	---					
HMCN1	83872	broad.mit.edu	37	1	186023004	186023004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr1:186023004delG	ENST00000271588.4	+	44	6977	c.6748delG	c.(6748-6750)ggfs	p.G2251fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.G2251fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2251	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATTTTATCTGGGGGCAGGCA	0.423													13	60	---	---	---	---					
SIMC1	375484	broad.mit.edu	37	5	175717845	175717845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr5:175717845delC	ENST00000443967.1	+	4	1668	c.1261delC	c.(1261-1263)cafs	p.P421fs	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Frame_Shift_Del_p.P440fs					SUMO-interacting motifs containing 1																		ATCACGAACACCACAAGGTGG	0.488													7	22	---	---	---	---					
COL11A2	1302	broad.mit.edu	37	6	33156836	33156836	+	Frame_Shift_Del	DEL	C	C	-	rs148765616		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr6:33156836delC	ENST00000341947.2	-	3	589	c.362delG	c.(361-363)ccfs	p.R121fs	COL11A2_ENST00000395194.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.R121fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.R121fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	121	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATACAGGAAGCGGACAGGTCG	0.617													64	81	---	---	---	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)atfs	p.I78fs	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													7	375	---	---	---	---					
COL1A2	1278	broad.mit.edu	37	7	94024394	94024394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:94024394delA	ENST00000297268.6	+	1	522	c.51delA	c.(49-51)ttfs	p.L17fs		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	17					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGTAACCTTATGCCTAGCAA	0.522										HNSCC(75;0.22)	OREG0018169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	195	---	---	---	---					
CHRM2	1129	broad.mit.edu	37	7	136699767	136699768	+	Frame_Shift_Ins	INS	-	-	C			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr7:136699767_136699768insC	ENST00000445907.2	+	3	683_684	c.155_156insC	c.(154-156)ccafs	p.P52fs	AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Ins_p.P52fs|CHRM2_ENST00000320658.5_Frame_Shift_Ins_p.P52fs|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Ins_p.P52fs|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Frame_Shift_Ins_p.P52fs|CHRM2_ENST00000397608.3_Frame_Shift_Ins_p.P52fs	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	52					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.R52H(3)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AAAGTCAACCGCCACCTCCAGA	0.446													60	101	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8235375	8235376	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:8235375_8235376delAG	ENST00000520004.1	-	3	807_808	c.543_544delCT	c.(541-546)agtcfs	p.SF181fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.SF181fs			Q86YV5	SG223_HUMAN		181							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCCTCCGGGAAGCTCACCGGGT	0.599													76	81	---	---	---	---					
WHSC1L1	54904	broad.mit.edu	37	8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)gcfs	p.S200fs	WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML								10	2432	---	---	---	---					
PRUNE2	158471	broad.mit.edu	37	9	79325382	79325382	+	Frame_Shift_Del	DEL	T	T	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:79325382delT	ENST00000428286.1	-	8	1931	c.731delA	c.(730-732)atfs	p.N244fs	PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.N603fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	603					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTCCAGTATTTTTTAGCCT	0.438													17	76	---	---	---	---					
ALDOB	229	broad.mit.edu	37	9	104190767	104190770	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:104190767_104190770delTTTG	ENST00000374855.4	-	4	484_487	c.360_363delCAAA	c.(358-363)aafs	p.NK120fs	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	120			Missing (in HFI).		fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGGTGGTTTCTTTGTTTGTTCCTG	0.402													35	81	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139252515	139252515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr9:139252515delG	ENST00000440944.1	+	14	2091	c.1871delG	c.(1870-1872)cgfs	p.R624fs	GPSM1_ENST00000429455.1_Frame_Shift_Del_p.R115fs|GPSM1_ENST00000392944.1_Frame_Shift_Del_p.R115fs	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	624					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GTACTGCCCCGGGGCCCTACC	0.687													9	25	---	---	---	---					
SCARB1	949	broad.mit.edu	37	12	125263021	125263022	+	Frame_Shift_Ins	INS	-	-	G			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr12:125263021_125263022insG	ENST00000339570.5	-	12	1708_1709	c.1512_1513insC	c.(1510-1515)cccagcfs	p.S505fs	SCARB1_ENST00000261693.6_3'UTR|SCARB1_ENST00000415380.2_3'UTR|SCARB1_ENST00000376788.1_3'UTR	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	0					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTCAGGCTGTGGGGCTGGGGG	0.683													6	6	---	---	---	---					
EML5	161436	broad.mit.edu	37	14	89181381	89181381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr14:89181381delC	ENST00000554922.1	-	9	1594	c.1346delG	c.(1345-1347)gafs	p.G449fs	EML5_ENST00000380664.5_Frame_Shift_Del_p.G449fs|EML5_ENST00000352093.5_Frame_Shift_Del_p.G449fs	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	449						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACTAAGGGATCCCAAACACTC	0.403													14	63	---	---	---	---					
RPGRIP1L	23322	broad.mit.edu	37	16	53706851	53706852	+	Frame_Shift_Ins	INS	-	-	T	rs148808566		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr16:53706851_53706852insT	ENST00000262135.4	-	8	1052_1053	c.959_960insA	c.(958-960)ccgfs	p.P320fs	RPGRIP1L_ENST00000379925.3_Frame_Shift_Ins_p.P320fs|RPGRIP1L_ENST00000564374.1_Frame_Shift_Ins_p.P320fs|RPGRIP1L_ENST00000563746.1_Frame_Shift_Ins_p.P320fs	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	320					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATTTTAAACGCTGCTCTTTAAG	0.361													24	38	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	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													3	6	---	---	---	---					
SMURF2P1	0	broad.mit.edu	37	17	28999182	28999182	+	RNA	DEL	G	G	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr17:28999182delG	ENST00000578265.1	+	0	377																											ATAAGCCAAAGGGAAAAAAAA	0.373													27	74	---	---	---	---					
KCTD1	284252	broad.mit.edu	37	18	24128325	24128327	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr18:24128325_24128327delTCC	ENST00000417602.1	-	1	173_175	c.174_176delGGA	c.(172-177)gaa>ga	p.EE62del	KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.724													2	4	---	---	---	---					
ALKBH6	84964	broad.mit.edu	37	19	36505076	36505076	+	Splice_Site	DEL	C	C	-			TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr19:36505076delC	ENST00000378875.3	-	1	65		c.e1+1		AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000485128.1_Splice_Site|ALKBH6_ENST00000486389.1_5'UTR|ALKBH6_ENST00000252984.7_Splice_Site|ALKBH6_ENST00000495116.2_Splice_Site	NM_032878.3|NM_198867.1	NP_116267.3|NP_942567.1	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAAAACTGACCGTCCACCAG	0.587													21	47	---	---	---	---					
SOGA1	140710	broad.mit.edu	37	20	35467637	35467643	+	Frame_Shift_Del	DEL	GACCACG	GACCACG	-	rs151235047	by1000genomes	TCGA-91-6831-01A-11D-1855-08	TCGA-91-6831-11A-02D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1624af6f-05a6-474c-ba49-9754938979c6	e276abe0-5a45-458f-abe9-6ab62a4d9c36	g.chr20:35467637_35467643delGACCACG	ENST00000237536.4	-	2	1230_1236	c.889_895delCGTGGTC	c.(889-897)tgfs	p.RGL297fs	SOGA1_ENST00000279034.5_Frame_Shift_Del_p.RGL59fs|SOGA1_ENST00000357779.3_Frame_Shift_Del_p.RGL59fs	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	59										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCCTGCTCCAGACCACGGATAAGCTCG	0.647													11	136	---	---	---	---					
