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
SAMD11	148398	broad.mit.edu	37	1	861353	861353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:861353C>T	ENST00000342066.3	+	2	115	c.32C>T	c.(31-33)cCg>cTg	p.P11L	AL645608.1_ENST00000598827.1_Missense_Mutation_p.G83R	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	11						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GTGCATCCTCCGATCTGCGAC	0.642000													12	64					0	0	0.003163	0	0
SETD1A	9739	broad.mit.edu	37	16	30977304	30977304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:30977304C>T	ENST00000262519.8	+	8	2788	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGATTGATTGCCGCCTCAGCT	0.637000													14	81					0	0	0.004007	0	0
TMC7	79905	broad.mit.edu	37	16	19047023	19047023	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:19047023C>T	ENST00000421369.3	+	7	1111	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Silent_p.L295L|TMC7_ENST00000304381.5_Silent_p.L295L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	295						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAAAATCAACCTGATTCGGAG	0.473000													14	61					0	0	0.003163	0	0
NAMPT	10135	broad.mit.edu	37	7	105894856	105894856	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:105894856A>T	ENST00000222553.3	-	9	1491	c.1184T>A	c.(1183-1185)tTg>tAg	p.L395*		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	395					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAACAATTCAAGAGATCTCT	0.373000													18	91					0	0	0.007413	0	0
CTIF	9811	broad.mit.edu	37	18	46383995	46383995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:46383995C>T	ENST00000256413.3	+	11	1859	c.1564C>T	c.(1564-1566)Ctt>Ttt	p.L522F	CTIF_ENST00000382998.4_Missense_Mutation_p.L524F	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	522	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGATGCTGTCCTTTGCTGCTC	0.547000													15	60					0	0	0.007413	0	0
IGKV3D-15	28875	broad.mit.edu	37	2	90154148	90154148	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:90154148C>T	ENST00000417279.2	+	0	284																											CACTGGCATCCCAGCCAGGTT	0.537000													16	61					0	0	0.001882	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391771	139391771	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:139391771G>A	ENST00000277541.6	-	34	6495	c.6420C>T	c.(6418-6420)tgC>tgT	p.C2140C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2140					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTTGGGCGAGCAGAGCGGGG	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	22					0	0	0.006214	0	0
OR11H12	440153	broad.mit.edu	37	14	19377716	19377716	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:19377716C>T	ENST00000550708.1	+	1	195	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F41L(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCAGATCTTCCTCTTCTCAC	0.423000													18	93					0	0	0.002299	0	0
EVA1B	55194	broad.mit.edu	37	1	36788614	36788614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:36788614C>T	ENST00000270824.1	-	2	316	c.25G>A	c.(25-27)Gag>Aag	p.E9K	SH3D21_ENST00000474766.1_Intron|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)																		CTGAGCAACTCCATGTCCCTT	0.662000													5	46					0	0	0.001168	0	0
LIFR	3977	broad.mit.edu	37	5	38482697	38482697	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:38482697G>A	ENST00000263409.4	-	19	2826	c.2664C>T	c.(2662-2664)gtC>gtT	p.V888V	LIFR_ENST00000453190.2_Silent_p.V888V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	888					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCTCACAGACACTCTTTT	0.259000			T	PLAG1	salivary adenoma								9	83					0	0	0.001368	0	0
IGHG3	3502	broad.mit.edu	37	14	106235850	106235850	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:106235850C>T	ENST00000390551.2	-	0	856																											TGGTCATCTCCTCCCGGGATG	0.637000													34	175					0	0	0.002222	0	0
HFE2	148738	broad.mit.edu	37	1	145416393	145416393	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:145416393C>T	ENST00000336751.5	+	4	976	c.738C>T	c.(736-738)gcC>gcT	p.A246A	HFE2_ENST00000357836.5_Silent_p.A133A|HFE2_ENST00000475797.1_Silent_p.A20A|HFE2_ENST00000497365.1_Silent_p.A20A	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	246					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGTAGCCTTTGAAGATG	0.473000													16	83					0	0	0.004007	0	0
TTLL6	284076	broad.mit.edu	37	17	46867349	46867349	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:46867349C>T	ENST00000393382.3	-	10	1485	c.1344G>A	c.(1342-1344)ttG>ttA	p.L448L	TTLL6_ENST00000433608.2_Silent_p.L141L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	400						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTCCTCCTCCAAGACTTTCT	0.532000													14	61					0	0	0.003163	0	0
CLCN5	1184	broad.mit.edu	37	X	49853375	49853375	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:49853375C>T	ENST00000376088.3	+	12	2219	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	CLCN5_ENST00000376108.3_Silent_p.I456I|CLCN5_ENST00000307367.2_Silent_p.I456I|CLCN5_ENST00000376091.3_Silent_p.I526I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	456					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GCCTCTTTATCCCTAGCATGG	0.483000													54	105					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216073545	216073545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:216073545G>A	ENST00000366943.2	-	40	7852	c.7466C>T	c.(7465-7467)cCt>cTt	p.P2489L	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.P2489L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2489	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGATGCAGAAGGATTGGAAAA	0.348000										HNSCC(13;0.011)			9	43					0	0	0.004482	0	0
TP53I3	9540	broad.mit.edu	37	2	24300515	24300515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:24300515C>T	ENST00000313482.4	-	5	795	c.736G>A	c.(736-738)Gga>Aga	p.G246R	TP53I3_ENST00000238721.4_Silent_p.Q311Q|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Silent_p.Q311Q|TP53I3_ENST00000407482.1_Missense_Mutation_p.G246R			Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	0					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGGGCCTCCTGGATTTCGG	0.577000													14	57					0	0	0.004007	0	0
HSPA14	51182	broad.mit.edu	37	10	14890856	14890856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:14890856C>T	ENST00000378372.3	+	5	577	c.338C>T	c.(337-339)cCa>cTa	p.P113L		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	113					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTTGTTAACCCAGAAGATGTT	0.249000													10	45					0	0	0.001855	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779672	76779672	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:76779672G>A	ENST00000328299.3	+	2	349	c.201G>A	c.(199-201)gtG>gtA	p.V67V	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	67					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATAAATGTGAAGACACAAG	0.458000													13	56					0	0	0.004007	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131497	35131497	+	RNA	SNP	G	G	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:35131497G>T	ENST00000436258.1	-	0	1872																											GATTCACAATGGGATGAAGTG	0.413000													6	109					0.00448238	0.00930031	0.004482	1	0
BACE2	25825	broad.mit.edu	37	21	42615331	42615331	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:42615331A>G	ENST00000330333.6	+	5	1239	c.776A>G	c.(775-777)tAt>tGt	p.Y259C	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259C|BACE2_ENST00000347667.4_Missense_Mutation_p.Y259C	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	259					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCAAGTTTGTATAAAGGAGAC	0.393000													15	43					0	0	0.006122	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583942	145583942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:145583942C>T	ENST00000532887.1	+	3	1373	c.790C>T	c.(790-792)Cca>Tca	p.P264S	SLC52A2_ENST00000527078.1_Missense_Mutation_p.P264S|SLC52A2_ENST00000540505.1_Missense_Mutation_p.P176S|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.P264S|SLC52A2_ENST00000402965.1_Missense_Mutation_p.P264S|SLC52A2_ENST00000329994.2_Missense_Mutation_p.P264S			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	264						integral to plasma membrane	receptor activity|riboflavin transporter activity										CACCCCTGGTCCAGACCCTAA	0.647000													16	39					0	0	0.004990	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129963080	129963080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:129963080G>A	ENST00000368149.2	-	2	285	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	66					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AGAATCCTGGGAAATTGATCG	0.388000													18	72					0	0	0.006122	0	0
HN1	51155	broad.mit.edu	37	17	73144669	73144669	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:73144669A>C	ENST00000476258.1	-	2	1123	c.16T>G	c.(16-18)Ttt>Gtt	p.F6V	HN1_ENST00000465454.1_5'UTR|HN1_ENST00000470924.1_Missense_Mutation_p.F6V|HN1_ENST00000392566.2_Missense_Mutation_p.F6V|HN1_ENST00000409753.3_Missense_Mutation_p.F52V|HN1_ENST00000405458.3_Missense_Mutation_p.F6V|HN1_ENST00000356033.4_Missense_Mutation_p.F52V|HN1_ENST00000481647.1_Missense_Mutation_p.F6V|HN1_ENST00000482348.1_Missense_Mutation_p.F6V|HN1_ENST00000581874.1_Missense_Mutation_p.F52V			Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	52						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					GGTGTCCCAAAGATATTAGAG	0.463000													15	49					0	0	0.004007	0	0
CMYA5	202333	broad.mit.edu	37	5	79026497	79026497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:79026497G>A	ENST00000446378.2	+	2	1940	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	637	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAGAATGAGGAATTTGAGGC	0.463000													16	64					0	0	0.006122	0	0
SIRT7	51547	broad.mit.edu	37	17	79872373	79872373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:79872373C>T	ENST00000328666.6	-	7	675	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	205	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AACACCCGCACGTACTCCCTG	0.637000													30	89					0	0	0.002445	0	0
B9D1	27077	broad.mit.edu	37	17	19263689	19263689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:19263689C>T	ENST00000461069.2	-	2	120	c.76G>A	c.(76-78)Gat>Aat	p.D26N	B9D1_ENST00000575403.1_Start_Codon_SNP_p.M1I|B9D1_ENST00000395616.3_Missense_Mutation_p.D26N|B9D1_ENST00000477478.2_Start_Codon_SNP_p.M1I|B9D1_ENST00000395615.1_Missense_Mutation_p.D26N|B9D1_ENST00000261499.4_Missense_Mutation_p.D26N|B9D1_ENST00000268841.6_Missense_Mutation_p.D26N			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	26	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TAGAGGTCATCATACTCTGGA	0.517000													27	107					0	0	0.006320	0	0
NFE2	4778	broad.mit.edu	37	12	54686865	54686865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:54686865G>A	ENST00000540264.2	-	2	924	c.415C>T	c.(415-417)Caa>Taa	p.Q139*	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Nonsense_Mutation_p.Q139*|NFE2_ENST00000312156.4_Nonsense_Mutation_p.Q139*|NFE2_ENST00000435572.2_Nonsense_Mutation_p.Q139*			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	139	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGTCTTCTTGGGGCTTAGGT	0.592000													30	137					0	0	0.002445	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21013995	21013995	+	Missense_Mutation	SNP	C	C	T	rs150039066		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:21013995C>T	ENST00000381545.3	+	6	623	c.404C>T	c.(403-405)tCa>tTa	p.S135L	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S135L|LST3_ENST00000540229.1_Missense_Mutation_p.S135L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S135L|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	135					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCAGAAAATTCAACATCAAGT	0.284000													9	48					0	0	0.004482	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4444801	4444801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:4444801G>A	ENST00000254718.4	-	24	3560	c.3254C>T	c.(3253-3255)tCc>tTc	p.S1085F	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.S1085F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1085					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CAGCTCCAGGGAGGACAGTGC	0.657000													12	105					0	0	0.001855	0	0
CLUL1	27098	broad.mit.edu	37	18	618075	618075	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:618075G>A	ENST00000581619.1	+	2	997	c.150G>A	c.(148-150)aaG>aaA	p.K50K	CLUL1_ENST00000338387.7_Silent_p.K25K|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000400606.2_Silent_p.K25K|CLUL1_ENST00000540035.1_Silent_p.K77K|CLUL1_ENST00000579494.1_Silent_p.K25K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	25					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CCACTTGGAAGGACAAAACTG	0.463000													5	44					0	0	0.000602	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:96706525C>T	ENST00000389672.5	+	3	840	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_ENST00000542517.1_Missense_Mutation_p.R174C|EPHA6_ENST00000470610.2_Missense_Mutation_p.R268C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000													62	234					0	0	0.003610	0	0
SPEF2	79925	broad.mit.edu	37	5	35795863	35795863	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:35795863C>G	ENST00000440995.2	+	33	4781	c.4781C>G	c.(4780-4782)cCc>cGc	p.P1594R	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.P396R|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1599R			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1599					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTCTTGAACCCCTTCCATTT	0.318000													16	85					0	0	0.001523	0	0
MLXIP	22877	broad.mit.edu	37	12	122619843	122619843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:122619843C>T	ENST00000319080.6	+	10	1937	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	MLXIP_ENST00000538698.1_Missense_Mutation_p.S209F|MLXIP_ENST00000535996.1_3'UTR			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATGTTGGCCTCCACCGTGTCC	0.602000													12	38					0	0	0.002450	0	0
DMBT1	1755	broad.mit.edu	37	10	124339135	124339135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:124339135G>A	ENST00000338354.3	+	10	827	c.721G>A	c.(721-723)Gac>Aac	p.D241N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D241N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D241N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D241N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D241N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D241N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	241	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D241N(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAATGGAGGCGACAGGTGTCG	0.547000													51	313					0	0	0.003610	0	0
WSCD2	9671	broad.mit.edu	37	12	108641991	108641991	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:108641991C>T	ENST00000332082.4	+	10	2387	c.1569C>T	c.(1567-1569)ctC>ctT	p.L523L	WSCD2_ENST00000549903.1_Silent_p.L543L|WSCD2_ENST00000261400.3_Silent_p.L543L|WSCD2_ENST00000547525.1_Silent_p.L523L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	523						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTCAGGGCTCCGGAAGCTCG	0.602000													8	58					0	0	0.003080	0	0
ANK1	286	broad.mit.edu	37	8	41552702	41552702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:41552702C>T	ENST00000396942.1	-	27	3191	c.3108G>A	c.(3106-3108)atG>atA	p.M1036I	ANK1_ENST00000265709.8_Missense_Mutation_p.M1077I|ANK1_ENST00000352337.4_Missense_Mutation_p.M1036I|ANK1_ENST00000396945.1_Missense_Mutation_p.M1036I|ANK1_ENST00000379758.2_Missense_Mutation_p.M1036I|ANK1_ENST00000289734.7_Missense_Mutation_p.M1036I|ANK1_ENST00000347528.4_Missense_Mutation_p.M1036I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1036					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TACCTTCGTCCATCCCGTTGA	0.602000													39	159					0	0	0.002222	0	0
IL22RA1	58985	broad.mit.edu	37	1	24447491	24447491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:24447491G>A	ENST00000270800.1	-	7	1567	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	510						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAAAGGGAGGGACATGGGGTG	0.612000													10	65					0	0	0.000673	0	0
UVRAG	7405	broad.mit.edu	37	11	75852215	75852215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:75852215G>A	ENST00000356136.3	+	15	2099	c.1858G>A	c.(1858-1860)Gtc>Atc	p.V620I	UVRAG_ENST00000533454.1_Missense_Mutation_p.V248I|UVRAG_ENST00000538870.1_Missense_Mutation_p.V176I|UVRAG_ENST00000531818.1_Missense_Mutation_p.V248I|UVRAG_ENST00000528420.1_Missense_Mutation_p.V519I|UVRAG_ENST00000539288.1_Missense_Mutation_p.V248I|UVRAG_ENST00000532130.1_Missense_Mutation_p.V248I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	620					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTTCCACCCAGTCTCAGAAGC	0.587000													8	51					0	0	0.000673	0	0
CLEC4C	170482	broad.mit.edu	37	12	7899916	7899916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:7899916C>T	ENST00000542353.1	-	2	519	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	CLEC4C_ENST00000360345.3_Missense_Mutation_p.R10Q|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R10Q|CLEC4C_ENST00000354629.5_Missense_Mutation_p.R10Q	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	10					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GTGCTTACCTCGGTCTTGAGG	0.493000													19	125					0	0	0.002780	0	0
OR10G9	219870	broad.mit.edu	37	11	123893831	123893831	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:123893831C>T	ENST00000375024.1	+	1	112	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTCACTGTGCTGGGGAACCT	0.572000													7	116					0	0	0.004990	0	0
KDM3A	55818	broad.mit.edu	37	2	86693920	86693920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:86693920C>T	ENST00000409556.1	+	11	1798	c.1433C>T	c.(1432-1434)gCt>gTt	p.A478V	KDM3A_ENST00000485171.1_Intron|KDM3A_ENST00000409064.1_Missense_Mutation_p.A478V|KDM3A_ENST00000312912.5_Missense_Mutation_p.A478V|KDM3A_ENST00000542128.1_Missense_Mutation_p.A426V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	478					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TCAGCTTTAGCTTGCCGATCA	0.383000													13	49					0	0	0.002450	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506847	178506847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:178506847C>T	ENST00000315475.6	+	5	1720	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGTGTAATCAGTGTGGAAA	0.403000													15	49					0	0	0.004007	0	0
ACE2	59272	broad.mit.edu	37	X	15609836	15609836	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:15609836G>A	ENST00000427411.1	-	5	799	c.583_splice	c.e5+1	p.H195_splice	ACE2_ENST00000252519.3_Splice_Site_p.H195_splice	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	195					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	p.H195Y(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GCAAACTTACGATTTGCTCTT	0.498000													58	94					0	0	0.003610	0	0
ADAM22	53616	broad.mit.edu	37	7	87746124	87746124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:87746124C>T	ENST00000398204.4	+	7	925	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ADAM22_ENST00000398201.4_Missense_Mutation_p.P201L|ADAM22_ENST00000398209.3_Missense_Mutation_p.P201L|ADAM22_ENST00000439864.1_Missense_Mutation_p.P201L|ADAM22_ENST00000315984.7_Missense_Mutation_p.P201L|ADAM22_ENST00000265727.7_Missense_Mutation_p.P201L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	201					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GATGATCTTCCATCTGGTATG	0.318000													7	32					0	0	0.001984	0	0
ZAK	51776	broad.mit.edu	37	2	174131184	174131184	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:174131184C>T	ENST00000375213.3	+	20	2187	c.2109C>T	c.(2107-2109)tcC>tcT	p.S703S	MLTK_ENST00000409176.2_Silent_p.S703S|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					GTCAGCATTCCACTCCTTCAA	0.483000													12	53					0	0	0.002450	0	0
NEB	4703	broad.mit.edu	37	2	152544142	152544142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:152544142C>T	ENST00000397345.3	-	26	2723	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	NEB_ENST00000172853.10_Missense_Mutation_p.D841N|NEB_ENST00000603639.1_Missense_Mutation_p.D841N|NEB_ENST00000604864.1_Missense_Mutation_p.D841N|NEB_ENST00000427231.2_Missense_Mutation_p.D841N|NEB_ENST00000409198.1_Missense_Mutation_p.D841N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	841					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			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)		ACACTCACATCGCTGGTGTTC	0.532000													9	18					0	0	0.004482	0	0
AHCYL2	23382	broad.mit.edu	37	7	129019555	129019555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:129019555C>T	ENST00000325006.3	+	2	494	c.440C>T	c.(439-441)tCc>tTc	p.S147F	AHCYL2_ENST00000490911.1_Missense_Mutation_p.S44F|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S146F|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S45F|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S66F|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S44F	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	147					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTGTCTCGTTCCATTTCTCAG	0.458000													6	51					0	0	0.001984	0	0
IQCE	23288	broad.mit.edu	37	7	2611180	2611180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:2611180C>T	ENST00000402050.2	+	4	335	c.151C>T	c.(151-153)Ccg>Tcg	p.P51S	IQCE_ENST00000438376.2_Missense_Mutation_p.P35S|IQCE_ENST00000404984.1_Splice_Site|IQCE_ENST00000325979.7_5'UTR	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	51										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)		TCTCTCTAAGCCGAGAAAAGT	0.577000													19	101					0	0	0.001216	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369251	20369251	+	RNA	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:20369251T>A	ENST00000593655.1	-	0	199																											ATGTTAGAAGTTAACTACCCT	0.398000													21	73					0	0	0.001882	0	0
DDX24	57062	broad.mit.edu	37	14	94526857	94526857	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:94526857C>G	ENST00000330836.5	-	5	1631	c.1500G>C	c.(1498-1500)aaG>aaC	p.K500N	DDX24_ENST00000544005.1_Missense_Mutation_p.K250N|DDX24_ENST00000555054.1_Missense_Mutation_p.K457N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	500	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCGTTTGTCTCTTTGGGTTGT	0.488000													35	151					0	0	0.003755	0	0
OR10G7	390265	broad.mit.edu	37	11	123909597	123909597	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:123909597G>A	ENST00000330487.5	-	1	120	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGTTCCCCAGCACAGTGAGC	0.572000													10	70					0	0	0.001855	0	0
SALL4	57167	broad.mit.edu	37	20	50407792	50407792	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:50407792G>A	ENST00000217086.4	-	2	1341	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	410					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGAGCACACGAAGGGTCTCT	0.557000													14	44					0	0	0.001855	0	0
GPR62	118442	broad.mit.edu	37	3	51990248	51990248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:51990248G>A	ENST00000322241.4	+	1	919	c.580G>A	c.(580-582)Ggc>Agc	p.G194S		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCCTACGGCGGCATCTTCGT	0.741000													4	12					0	0	0.000602	0	0
MYOF	26509	broad.mit.edu	37	10	95076544	95076544	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:95076544C>T	ENST00000371501.4	-	50	5747	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T	MYOF_ENST00000358334.5_Silent_p.T1862T|MYOF_ENST00000371502.4_Silent_p.T1865T|MYOF_ENST00000359263.4_Silent_p.T1875T			Q9NZM1	MYOF_HUMAN	myoferlin	1875					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCGAAATTCCGTTTGGTCAA	0.413000													11	70					0	0	0.001368	0	0
CPNE6	9362	broad.mit.edu	37	14	24545597	24545597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:24545597G>A	ENST00000397016.2	+	13	1398	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R	CPNE6_ENST00000216775.2_Missense_Mutation_p.G363R|CPNE6_ENST00000537691.1_Missense_Mutation_p.G418R			O95741	CPNE6_HUMAN	copine VI (neuronal)	363	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TTTTGGCTTTGGGGCTCGAAT	0.592000													26	101					0	0	0.006320	0	0
NDST3	9348	broad.mit.edu	37	4	118975844	118975844	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:118975844A>C	ENST00000296499.5	+	2	1182	c.779A>C	c.(778-780)gAc>gCc	p.D260A	NDST3_ENST00000433996.2_Missense_Mutation_p.D260A	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	260	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATTATACATGACCTGGGGCTT	0.403000													17	95					0	0	0.006122	0	0
TBL3	10607	broad.mit.edu	37	16	2025406	2025406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:2025406C>T	ENST00000568546.1	+	9	900	c.772C>T	c.(772-774)Cca>Tca	p.P258S		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	258					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGTGAAGTCCCCAGGGCTGTA	0.627000													20	77					0	0	0.002299	0	0
CASS4	57091	broad.mit.edu	37	20	55033750	55033750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:55033750G>A	ENST00000371336.3	+	6	2509	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	CASS4_ENST00000360314.3_Missense_Mutation_p.E770K|CASS4_ENST00000434344.1_Missense_Mutation_p.E333K	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	770					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTCCAGGCGGAGGCTGAGAA	0.627000													5	13					0	0	0.001168	0	0
MEPE	56955	broad.mit.edu	37	4	88766630	88766630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:88766630C>T	ENST00000497649.2	+	6	916	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	MEPE_ENST00000361056.3_Nonsense_Mutation_p.Q204*|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Nonsense_Mutation_p.Q204*|MEPE_ENST00000540395.1_Nonsense_Mutation_p.Q91*|MEPE_ENST00000395102.4_Nonsense_Mutation_p.Q235*|MEPE_ENST00000560249.1_Nonsense_Mutation_p.Q91*			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	204					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TTCCCAAGCCCAGAAAAGTCC	0.378000													17	64					0	0	0.007413	0	0
TRIML2	205860	broad.mit.edu	37	4	189012755	189012755	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:189012755G>A	ENST00000512729.1	-	7	1310	c.936C>T	c.(934-936)ttC>ttT	p.F312F	TRIML2_ENST00000326754.3_Silent_p.F337F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	312	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCTTTTCCAGGAAGAGCCTTT	0.527000													27	158					0	0	0.002096	0	0
ZRANB3	84083	broad.mit.edu	37	2	135966509	135966509	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:135966509G>A	ENST00000401392.1	-	18	2741	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.D845D|ZRANB3_ENST00000536680.1_Silent_p.D843D			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	845						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TCTTCACTTTGTCCATTGAGG	0.383000													14	88					0	0	0.006122	0	0
TUBB6	84617	broad.mit.edu	37	18	12325740	12325740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:12325740C>T	ENST00000317702.5	+	4	1186	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	318					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CACCGTGTTCCGCGGGCCCAT	0.617000													19	72					0	0	0.007413	0	0
FGD5	152273	broad.mit.edu	37	3	14964555	14964555	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:14964555C>T	ENST00000285046.5	+	16	3920	c.3810C>T	c.(3808-3810)atC>atT	p.I1270I	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Silent_p.I1029I|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1270					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCCTGCAGATCGTGTGCCGGA	0.607000													9	82					0	0	0.000673	0	0
SNX5	27131	broad.mit.edu	37	20	17934738	17934738	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:17934738G>A	ENST00000377768.3	-	5	603	c.291C>T	c.(289-291)ccC>ccT	p.P97P	SNX5_ENST00000377759.4_Silent_p.P97P|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	97	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CATCAAAGTCGGGCTTCGTAG	0.493000													21	75					0	0	0.002299	0	0
SLC35B4	84912	broad.mit.edu	37	7	133979702	133979702	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:133979702G>A	ENST00000378509.4	-	10	1178	c.879C>T	c.(877-879)acC>acT	p.T293T	SLC35B4_ENST00000466599.1_5'UTR	NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	293						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						AGTGCCACAGGGTGAAGGGGT	0.522000													40	118					0	0	0.007835	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044132	90044132	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:90044132C>T	ENST00000462693.1	+	0	83																											ATTTCAGGATCCAGTGGGGAT	0.418000													13	62					0	0	0.001368	0	0
FAM81B	153643	broad.mit.edu	37	5	94772524	94772524	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:94772524G>A	ENST00000283357.5	+	7	853	c.807G>A	c.(805-807)aaG>aaA	p.K269K		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	269										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCTTAGGAAAGATAGAAACTG	0.398000													9	30					0	0	0.004482	0	0
IARS2	55699	broad.mit.edu	37	1	220316323	220316323	+	Silent	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:220316323T>A	ENST00000366922.1	+	21	2713	c.2382T>A	c.(2380-2382)acT>acA	p.T794T	IARS2_ENST00000302637.5_Silent_p.T866T|IARS2_ENST00000467924.1_3'UTR			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	866					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGATTAGTACTAGTTCTATCT	0.433000													15	66					0	0	0.003163	0	0
STOX1	219736	broad.mit.edu	37	10	70644203	70644203	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:70644203C>T	ENST00000298596.6	+	3	734	c.651C>T	c.(649-651)tcC>tcT	p.S217S	STOX1_ENST00000399169.4_Silent_p.S217S|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Silent_p.S217S|STOX1_ENST00000421961.2_Silent_p.S107S	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	217						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGCCAGCTTCCATGACATATC	0.483000													20	51					0	0	0.001216	0	0
AHR	196	broad.mit.edu	37	7	17379730	17379730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:17379730C>T	ENST00000242057.4	+	10	2924	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	761					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CATAATAACTCCTCAGACATG	0.468000													13	96					0	0	0.003163	0	0
TTK	7272	broad.mit.edu	37	6	80732173	80732173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:80732173G>A	ENST00000509894.1	+	11	2070	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	TTK_ENST00000369798.2_Missense_Mutation_p.R414Q|TTK_ENST00000515751.1_3'UTR|TTK_ENST00000230510.3_Missense_Mutation_p.R414Q			P33981	TTK_HUMAN	TTK protein kinase	414					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R398Q(1)|p.R414Q(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GAGTTAGCCCGAAAAGTTAAT	0.363000													12	43					0	0	0.001855	0	0
GABRG2	2566	broad.mit.edu	37	5	161580116	161580116	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:161580116C>T	ENST00000356592.3	+	10	1630	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	GABRG2_ENST00000361925.4_Silent_p.I382I|GABRG2_ENST00000393933.4_Silent_p.I287I|GABRG2_ENST00000414552.2_Silent_p.I430I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	382					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCATTGATATCCGCCCAAGAT	0.488000													12	65					0	0	0.002450	0	0
ZMYND15	84225	broad.mit.edu	37	17	4648217	4648217	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:4648217G>A	ENST00000433935.1	+	12	1947	c.1890G>A	c.(1888-1890)cgG>cgA	p.R630R	ZMYND15_ENST00000573751.2_Silent_p.R638R|ZMYND15_ENST00000269289.6_Silent_p.R591R|ZMYND15_ENST00000592813.1_Silent_p.R591R	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	591							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTCTGCCCCGGTTACAGGTGG	0.582000													20	121					0	0	0.002299	0	0
RPL10	6134	broad.mit.edu	37	X	153628212	153628212	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:153628212A>T	ENST00000424325.2	+	5	447	c.259A>T	c.(259-261)Atc>Ttc	p.I87F	RPL10_ENST00000369817.2_Missense_Mutation_p.I87F|RPL10_ENST00000406022.2_Missense_Mutation_p.I36F	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCTTCCATATCCGGGTGCG	0.527000													18	23					0	0	0.006122	0	0
DDC	1644	broad.mit.edu	37	7	50571701	50571701	+	Silent	SNP	G	G	A	rs117436059	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:50571701G>A	ENST00000444124.2	-	7	971	c.771C>T	c.(769-771)gtC>gtT	p.V257V	DDC_ENST00000431062.1_Silent_p.V164V|DDC_ENST00000426377.1_Silent_p.V179V|DDC_ENST00000357936.5_Silent_p.V257V|DDC_ENST00000380984.4_Silent_p.V257V	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	257					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGATAGGACCGACTTCTAAGA	0.453000													27	62					0	0	0.002445	0	0
RANBP10	57610	broad.mit.edu	37	16	67763670	67763670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:67763670G>A	ENST00000317506.3	-	9	1175	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	RANBP10_ENST00000411657.2_Nonsense_Mutation_p.R237*|RANBP10_ENST00000602677.1_Nonsense_Mutation_p.R354*|RANBP10_ENST00000536251.1_Nonsense_Mutation_p.R125*|RANBP10_ENST00000448631.2_Nonsense_Mutation_p.R298*	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	354	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TTGGGGCTTCGGGAGCTCAAA	0.602000													20	95					0	0	0.001882	0	0
CDH15	1013	broad.mit.edu	37	16	89256729	89256729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:89256729C>T	ENST00000289746.2	+	8	1122	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCGGCTGCCCTTAGGGCTGA	0.632000													10	18					0	0	0.000978	0	0
MDFIC	29969	broad.mit.edu	37	7	114563024	114563024	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:114563024C>G	ENST00000257724.3	+	2	526	c.263C>G	c.(262-264)tCc>tGc	p.S88C	MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR|MDFIC_ENST00000423503.1_5'UTR			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	0					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						AGCCCTTCCTCCGTGCGCCCT	0.637000													3	12					0	0	0.000602	0	0
CILP2	148113	broad.mit.edu	37	19	19655235	19655235	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19655235C>T	ENST00000586018.1	+	8	2001	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	CILP2_ENST00000291495.4_Silent_p.F627F			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	627						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						ACCTGCGCTTCGTGGACAGCG	0.721000													24	94					0	0	0.003330	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307638	46307638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:46307638C>T	ENST00000221538.3	-	3	1667	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E509K|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E245K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	509	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCCTCCTCCTCGTCGCCCTCC	0.657000													13	33					0	0	0.001855	0	0
MEGF8	1954	broad.mit.edu	37	19	42847656	42847656	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:42847656A>T	ENST00000334370.4	+	9	2176	c.1541A>T	c.(1540-1542)tAc>tTc	p.Y514F	MEGF8_ENST00000251268.6_Missense_Mutation_p.Y514F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	514						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGTGGTCGGTACTCACATGTA	0.637000													13	45					0	0	0.003163	0	0
CRYZL1	9946	broad.mit.edu	37	21	34975741	34975741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:34975741C>T	ENST00000361534.2	-	8	645	c.506G>A	c.(505-507)gGa>gAa	p.G169E	CRYZL1_ENST00000381554.3_Missense_Mutation_p.G145E|CRYZL1_ENST00000381540.3_Missense_Mutation_p.G145E|CRYZL1_ENST00000290244.5_Missense_Mutation_p.G130E|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.G107E			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	145					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CACTGATTTTCCAGGAGAGAG	0.433000													17	87					0	0	0.006122	0	0
CARM1	10498	broad.mit.edu	37	19	11031388	11031388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:11031388C>T	ENST00000327064.4	+	12	1578	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	CARM1_ENST00000344150.4_Missense_Mutation_p.S463F	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	463					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGCTCCAAGTCCAGTAACCTC	0.642000													13	71					0	0	0.003163	0	0
TRIP12	9320	broad.mit.edu	37	2	230643226	230643226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:230643226C>T	ENST00000283943.5	-	35	5240	c.5062G>A	c.(5062-5064)Gct>Act	p.A1688T	TRIP12_ENST00000389044.4_Missense_Mutation_p.A1736T|TRIP12_ENST00000389045.3_Missense_Mutation_p.A1418T	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1688					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GCGATATGAGCTGGCTTTGCT	0.433000													6	114					0	0	0.001168	0	0
SDSL	113675	broad.mit.edu	37	12	113866240	113866240	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:113866240T>G	ENST00000403593.4	+	3	452	c.190T>G	c.(190-192)Tgc>Ggc	p.C64G	SDSL_ENST00000345635.4_Missense_Mutation_p.C64G			Q96GA7	SDSL_HUMAN	serine dehydratase-like	64					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	CAAGAAGGGATGCAGACACCT	0.552000													4	35					0	0	0.000602	0	0
SLC25A17	10478	broad.mit.edu	37	22	41190565	41190565	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:41190565G>A	ENST00000435456.2	-	3	268	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SLC25A17_ENST00000544408.1_Silent_p.S8S|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Intron	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	45					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GTGTAGTTTTGGATTTTCTTT	0.358000													15	32					0	0	0.007413	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135095760	135095760	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:135095760G>A	ENST00000368563.2	-	16	2732	c.2376C>T	c.(2374-2376)gcC>gcT	p.A792A	TUBGCP2_ENST00000543663.1_Silent_p.A820A|TUBGCP2_ENST00000252936.3_Silent_p.A792A|TUBGCP2_ENST00000368562.1_Silent_p.A385A|TUBGCP2_ENST00000417178.2_Silent_p.A662A	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	792					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCCGCTCCTCGGCCCCTGCGG	0.672000													4	17					0	0	0.000602	0	0
MNDA	4332	broad.mit.edu	37	1	158811970	158811970	+	Silent	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:158811970T>A	ENST00000368141.4	+	2	288	c.27T>A	c.(25-27)ctT>ctA	p.L9L	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	9	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGAAAATTCTTTTGCTGAAAG	0.308000													10	48					0	0	0.001855	0	0
EIF1B	10289	broad.mit.edu	37	3	40352422	40352422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:40352422C>T	ENST00000232905.3	+	2	328	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	24					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CGACTTACTCCCGGCAGGGAC	0.383000													5	39					0	0	0.000602	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572699	38572699	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:38572699C>G	ENST00000222345.6	+	3	1003	c.494C>G	c.(493-495)cCc>cGc	p.P165R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	165					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTCCTCCCCCTTCGGCAC	0.716000													15	54					0	0	0.004990	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673076	141673076	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:141673076C>T	ENST00000547270.1	-	1	497	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	138					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GGGAGATCTTCCTGGAGACCC	0.517000													8	24					0	0	0.003080	0	0
SEMG2	6407	broad.mit.edu	37	20	43852009	43852009	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:43852009C>A	ENST00000372769.3	+	2	1826	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	579					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GACAGAAATCCAATATCTACA	0.393000													4	39					0.00116845	0.00243524	0.001168	1	0
MCC	4163	broad.mit.edu	37	5	112720776	112720776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:112720776G>A	ENST00000408903.3	-	2	719	c.304C>T	c.(304-306)Cga>Tga	p.R102*	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTAATTTCTCGAACAAGCTGC	0.458000													17	104					0	0	0.007413	0	0
MAK	4117	broad.mit.edu	37	6	10764829	10764829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:10764829C>T	ENST00000313243.2	-	14	2110	c.1728G>A	c.(1726-1728)tgG>tgA	p.W576*	MAK_ENST00000354489.2_Nonsense_Mutation_p.W576*|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Nonsense_Mutation_p.W576*|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	576					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTTTTGTGTTCCAGGTATATT	0.388000													13	81					0	0	0.001855	0	0
PLIN4	729359	broad.mit.edu	37	19	4513458	4513458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:4513458C>T	ENST00000301286.3	-	3	471	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	158	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCAGTGGACACCGTGTCCTTG	0.642000													9	37					0	0	0.000673	0	0
SLC10A4	201780	broad.mit.edu	37	4	48487027	48487027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:48487027G>A	ENST00000273861.4	+	2	888	c.669G>A	c.(667-669)tgG>tgA	p.W223*		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	223						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCTGGGCTTGGATCAACACCC	0.552000													35	162					0	0	0.004289	0	0
MYH14	79784	broad.mit.edu	37	19	50794224	50794224	+	Silent	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:50794224A>G	ENST00000440075.2	+	36	5093	c.5046A>G	c.(5044-5046)ggA>ggG	p.G1682G	MYH14_ENST00000601313.1_Silent_p.G1682G|MYH14_ENST00000598205.1_Silent_p.G1649G|MYH14_ENST00000596571.1_Silent_p.G1641G|MYH14_ENST00000376970.2_Silent_p.G1674G|MYH14_ENST00000262269.8_Silent_p.G1682G|MYH14_ENST00000425460.1_Silent_p.G1649G			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1641					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGCTGGAGGGAGAGCTGGAGG	0.647000													3	7					0	0	0.004672	0	0
ARRDC1	92714	broad.mit.edu	37	9	140507443	140507443	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:140507443T>A	ENST00000371421.4	+	2	278	c.214T>A	c.(214-216)Tcg>Acg	p.S72T	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	72										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CAGTTCCCTGTCGCTGGCAGA	0.607000													6	16					0	0	0.001168	0	0
KIF5A	3798	broad.mit.edu	37	12	57966362	57966362	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:57966362G>A	ENST00000455537.2	+	15	1843		c.e15-1		KIF5A_ENST00000286452.5_Splice_Site	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A						blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCTGTCCCCAGGCCACCATGC	0.607000													12	30					0	0	0.001368	0	0
CCDC73	493860	broad.mit.edu	37	11	32675583	32675583	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:32675583C>T	ENST00000335185.5	-	11	818	c.774_splice	c.e11-1	p.E259_splice	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	259										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AATTCCAATTCCTTTAAAATT	0.269000													6	44					0	0	0.001984	0	0
CSMD1	64478	broad.mit.edu	37	8	3200828	3200828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:3200828G>A	ENST00000602557.1	-	24	4177	c.3622C>T	c.(3622-3624)Ctc>Ttc	p.L1208F	CSMD1_ENST00000537824.1_Missense_Mutation_p.L1207F|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1208F|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1207F|CSMD1_ENST00000520002.1_Missense_Mutation_p.L1208F|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1207F|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1208F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1208	CUB 7.					integral to membrane				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)		GTATAGGTGAGTTGAAAACCT	0.373000													14	64					0	0	0.002450	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112556	148112556	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:148112556C>T	ENST00000361727.3	+	24	4360	c.3844C>T	c.(3844-3846)Ctg>Ttg	p.L1282L	CNTNAP2_ENST00000538075.1_Silent_p.L341L|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1282					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L1282L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTGGTCTTCCTGATCCGGTA	0.582000										HNSCC(39;0.1)			9	53					0	0	0.006214	0	0
PRR12	57479	broad.mit.edu	37	19	50098425	50098425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:50098425C>T	ENST00000418929.2	+	4	845	c.833C>T	c.(832-834)cCt>cTt	p.P278L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	14	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCGCCGCCTGAGCGGGCC	0.706000													3	15					0	0	0.004672	0	0
RYR1	6261	broad.mit.edu	37	19	38981316	38981316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:38981316C>T	ENST00000355481.4	+	37	6202	c.6071C>T	c.(6070-6072)cCt>cTt	p.P2024L	RYR1_ENST00000360985.3_Missense_Mutation_p.P2024L|RYR1_ENST00000359596.3_Missense_Mutation_p.P2024L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2024	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCCTCTCCCTGAAGAGATT	0.463000													9	35					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179604270	179604270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:179604270C>T	ENST00000589042.1	-	48	13914	c.13690G>A	c.(13690-13692)Gaa>Aaa	p.E4564K	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.E4201K|TTN_ENST00000359218.5_Missense_Mutation_p.E4326K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4393K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4247K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4247	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTTTTTCGTCAGAGACA	0.428000													13	61					0	0	0.002450	0	0
ALOX15B	247	broad.mit.edu	37	17	7951740	7951740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:7951740G>A	ENST00000380183.4	+	14	2027	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	ALOX15B_ENST00000380173.2_Missense_Mutation_p.E601K|ALOX15B_ENST00000572022.1_Missense_Mutation_p.E618K|ALOX15B_ENST00000573359.1_Missense_Mutation_p.E556K	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	630	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCACTTCACAGAGGAGGCCCC	0.662000													17	40					0	0	0.004007	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041403	38041403	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:38041403C>T	ENST00000599616.1	+	8	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F	SH3BP1_ENST00000357436.4_Silent_p.F270F|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Silent_p.F270F|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.F270F			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	270	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCACCCACTTCCCCAGGGTGT	0.652000													12	95					0	0	0.003163	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707732	26707732	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:26707732A>G	ENST00000529632.2	+	8	1877		c.e8-1		SEZ6L_ENST00000248933.6_Splice_Site|SEZ6L_ENST00000403121.1_Splice_Site|SEZ6L_ENST00000343706.4_Splice_Site|SEZ6L_ENST00000404234.3_Splice_Site|SEZ6L_ENST00000402979.1_Splice_Site|SEZ6L_ENST00000360929.3_Splice_Site	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCCTTCCTCAGCGTTTGAGA	0.502000													87	163					0	0	0.003610	0	0
XYLT1	64131	broad.mit.edu	37	16	17294482	17294482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:17294482C>T	ENST00000261381.6	-	4	1027	c.943G>A	c.(943-945)Gag>Aag	p.E315K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	315					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E315K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACGGAGTCCTCGTCCCACTGC	0.572000													30	115					0	0	0.002445	0	0
OR5P3	120066	broad.mit.edu	37	11	7847391	7847391	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:7847391G>A	ENST00000328375.1	-	1	128	c.129C>T	c.(127-129)atC>atT	p.I43I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAATTATGCTGATATTACCCA	0.363000													13	72					0	0	0.001855	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:73787510G>A	ENST00000342056.2	+	5	1216	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273E|KCNQ5_ENST00000370398.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTACATAGGATTTTTGGTT	0.348000													8	44					0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79387463	79387463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:79387463G>A	ENST00000264895.6	+	50	7571	c.7131G>A	c.(7129-7131)atG>atA	p.M2377I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2376				K -> E (in Ref. 4; BAA96024).	cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTTCACCATGAAAGATATCT	0.547000													14	47					0	0	0.002450	0	0
VDAC1	7416	broad.mit.edu	37	5	133316436	133316436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:133316436G>A	ENST00000265333.3	-	6	779	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	VDAC1_ENST00000395044.3_Nonsense_Mutation_p.Q179*|VDAC1_ENST00000395047.2_Nonsense_Mutation_p.Q179*	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	179					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GTGTGAAGCTGGAATTCATCA	0.498000													8	21					0	0	0.003080	0	0
MAST4	375449	broad.mit.edu	37	5	66459221	66459221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:66459221G>A	ENST00000404260.3	+	29	4531	c.4223G>A	c.(4222-4224)gGc>gAc	p.G1408D	MAST4_ENST00000403625.2_Missense_Mutation_p.G1405D|MAST4_ENST00000405643.1_Missense_Mutation_p.G1226D|MAST4_ENST00000403666.1_Missense_Mutation_p.G1216D|MAST4_ENST00000261569.7_Missense_Mutation_p.G1211D			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1408						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACTCACTGGGCAATTCCAAG	0.657000													11	26					0	0	0.001368	0	0
FMO3	2328	broad.mit.edu	37	1	171073058	171073058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:171073058G>A	ENST00000367755.4	+	3	376	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	FMO3_ENST00000538429.1_Intron|FMO3_ENST00000392085.2_Missense_Mutation_p.E89K|FMO3_ENST00000542847.1_Missense_Mutation_p.E69K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	89					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGATCCAGGAATATATCAT	0.378000													7	60					0	0	0.001984	0	0
PRLR	5618	broad.mit.edu	37	5	35065841	35065841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:35065841G>A	ENST00000382002.5	-	10	1645	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.H306Y|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.H306Y	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	407					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCACCAGCATGAAAATAGGGG	0.493000													33	157					0	0	0.004878	0	0
WSCD2	9671	broad.mit.edu	37	12	108641992	108641992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:108641992C>T	ENST00000332082.4	+	10	2388	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	WSCD2_ENST00000549903.1_Missense_Mutation_p.R544W|WSCD2_ENST00000261400.3_Missense_Mutation_p.R544W|WSCD2_ENST00000547525.1_Missense_Mutation_p.R524W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	524						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCAGGGCTCCGGAAGCTCGA	0.607000													9	58					0	0	0.004482	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176769418	176769418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:176769418C>T	ENST00000430069.1	-	5	560	c.301G>A	c.(301-303)Gat>Aat	p.D101N	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D101N			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	101					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GCAAGCTTATCTCTATAAGCT	0.488000													14	64					0	0	0.001855	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720718	50720718	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:50720718C>T	ENST00000449103.1	-	19	3152	c.3012G>A	c.(3010-3012)acG>acA	p.T1004T	PLXNB2_ENST00000359337.4_Silent_p.T1004T			O15031	PLXB2_HUMAN	plexin B2	1004	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCCTGACCCGTGACGTTGA	0.701000													16	64					0	0	0.001882	0	0
ARPP21	10777	broad.mit.edu	37	3	35780906	35780906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:35780906C>T	ENST00000187397.4	+	17	2198	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	ARPP21_ENST00000337271.5_Missense_Mutation_p.S562F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S582F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S562F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S582F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	581	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TACCCATCCTCCCTTATGCCA	0.602000													14	47					0	0	0.001855	0	0
NREP	9315	broad.mit.edu	37	5	111066733	111066733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:111066733G>A	ENST00000379671.3	-	5	356	c.92C>T	c.(91-93)cCt>cTt	p.P31L	NREP_ENST00000453526.2_Missense_Mutation_p.P31L|NREP_ENST00000507742.1_5'UTR|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000455559.2_Missense_Mutation_p.P31L|NREP_ENST00000395634.3_Missense_Mutation_p.P75L|NREP_ENST00000446294.2_Missense_Mutation_p.P31L|NREP_ENST00000450761.2_Missense_Mutation_p.P31L|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000508870.1_Missense_Mutation_p.P31L|NREP_ENST00000509427.1_Missense_Mutation_p.P31L|NREP_ENST00000257435.7_Missense_Mutation_p.P31L|NREP_ENST00000447165.2_Missense_Mutation_p.P31L|NREP_ENST00000509025.1_Intron|NREP_ENST00000419114.2_Missense_Mutation_p.P31L|NREP_ENST00000515855.1_3'UTR	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	31						cytoplasm		p.P31L(1)|p.P75L(1)									CTTTGGGACAGGAAGTCTTCC	0.463000													5	35					0	0	0.000602	0	0
GRIN3A	116443	broad.mit.edu	37	9	104385660	104385660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:104385660C>T	ENST00000361820.3	-	5	3154	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	852					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATTGACACTTCATAATCCAGA	0.393000													18	69					0	0	0.001882	0	0
SCAMP1	9522	broad.mit.edu	37	5	77745826	77745826	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:77745826C>T	ENST00000538629.1	+	7	859	c.702C>T	c.(700-702)ctC>ctT	p.L234L	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	234					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TACATGTACTCCAAGCTGCAG	0.294000													18	156					0	0	0.001216	0	0
OR52E6	390078	broad.mit.edu	37	11	5862614	5862614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:5862614C>T	ENST00000329322.5	-	1	513	c.514G>A	c.(514-516)Gga>Aga	p.G172R	OR52E6_ENST00000379946.2_Missense_Mutation_p.G176R|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACGATGTCCACAGAAGGGC	0.488000													12	98					0	0	0.000978	0	0
KCNK2	3776	broad.mit.edu	37	1	215298065	215298065	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:215298065C>T	ENST00000444842.2	+	3	597	c.447C>T	c.(445-447)ttC>ttT	p.F149F	KCNK2_ENST00000391895.2_Silent_p.F145F|KCNK2_ENST00000391894.2_Silent_p.F134F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	149							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GTTCCTTCTTCTTTGCTGGCA	0.363000													22	144					0	0	0.003330	0	0
AGPAT3	56894	broad.mit.edu	37	21	45400909	45400909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:45400909C>T	ENST00000398063.2	+	8	1375	c.883C>T	c.(883-885)Cca>Tca	p.P295S	AGPAT3_ENST00000291572.8_Missense_Mutation_p.P295S|AGPAT3_ENST00000327505.2_Missense_Mutation_p.P295S|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Missense_Mutation_p.P295S|AGPAT3_ENST00000398058.1_Missense_Mutation_p.P295S|AGPAT3_ENST00000546158.1_Missense_Mutation_p.P295S	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	295					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GGGCATGTTTCCAGGGGAGCA	0.507000													21	93					0	0	0.001216	0	0
STK11IP	114790	broad.mit.edu	37	2	220480795	220480795	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:220480795C>T	ENST00000456909.1	+	25	3237	c.3147C>T	c.(3145-3147)ctC>ctT	p.L1049L	STK11IP_ENST00000295641.10_Silent_p.L1060L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1060					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGGGCACTCCGTGTGGTGT	0.612000													9	36					0	0	0.000978	0	0
OR4D9	390199	broad.mit.edu	37	11	59282667	59282667	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:59282667C>T	ENST00000329328.3	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCATCTCCTTCAGTGGCTGTG	0.473000													16	70					0	0	0.004990	0	0
CNTN5	53942	broad.mit.edu	37	11	100061871	100061871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:100061871C>T	ENST00000524871.1	+	14	1884	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	CNTN5_ENST00000527185.1_Missense_Mutation_p.P532S|CNTN5_ENST00000418526.2_Missense_Mutation_p.P458S|CNTN5_ENST00000528682.1_Missense_Mutation_p.P532S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P532S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	532	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGCTATTCTTCCAGACGGGAG	0.363000													7	29					0	0	0.004482	0	0
NREP	9315	broad.mit.edu	37	5	111066734	111066734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:111066734G>A	ENST00000379671.3	-	5	355	c.91C>T	c.(91-93)Cct>Tct	p.P31S	NREP_ENST00000453526.2_Missense_Mutation_p.P31S|NREP_ENST00000507742.1_5'UTR|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000455559.2_Missense_Mutation_p.P31S|NREP_ENST00000395634.3_Missense_Mutation_p.P75S|NREP_ENST00000446294.2_Missense_Mutation_p.P31S|NREP_ENST00000450761.2_Missense_Mutation_p.P31S|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000508870.1_Missense_Mutation_p.P31S|NREP_ENST00000509427.1_Missense_Mutation_p.P31S|NREP_ENST00000257435.7_Missense_Mutation_p.P31S|NREP_ENST00000447165.2_Missense_Mutation_p.P31S|NREP_ENST00000509025.1_Intron|NREP_ENST00000419114.2_Missense_Mutation_p.P31S|NREP_ENST00000515855.1_3'UTR	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	31						cytoplasm											TTTGGGACAGGAAGTCTTCCC	0.458000													5	34					0	0	0.000602	0	0
PCDH20	64881	broad.mit.edu	37	13	61987036	61987036	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:61987036A>G	ENST00000409186.1	-	5	3301	c.1196T>C	c.(1195-1197)cTt>cCt	p.L399P	PCDH20_ENST00000409204.4_Missense_Mutation_p.L399P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	372	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCCATTAGCAAGGATGGTGAG	0.428000													35	73					0	0	0.002836	0	0
ORC5	5001	broad.mit.edu	37	7	103801596	103801596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:103801596G>A	ENST00000545943.1	-	13	1302	c.677C>T	c.(676-678)cCa>cTa	p.P226L	ORC5_ENST00000297431.4_Missense_Mutation_p.P358L			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	358					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCTGTCTAGTGGAAATGGTTT	0.343000													21	92					0	0	0.002780	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517171	140517171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140517171G>A	ENST00000231134.5	+	1	2372	c.2155G>A	c.(2155-2157)Gcc>Acc	p.A719T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			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)			GAGCAGGGCGGCCTCGGTCGG	0.657000													34	156					0	0	0.003755	0	0
CDHR3	222256	broad.mit.edu	37	7	105667134	105667134	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:105667134G>A	ENST00000317716.9	+	16	2345	c.2265G>A	c.(2263-2265)aaG>aaA	p.K755K	CDHR3_ENST00000478080.1_Silent_p.K667K|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000542731.1_Intron|CDHR3_ENST00000470188.1_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	755					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATAGGACAAAGAAAGGAGGTA	0.458000													8	64					0	0	0.004482	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000541972.1_Silent_p.F1053F|CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000432237.2_Silent_p.F1065F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000													28	102					0	0	0.007291	0	0
ORC5	5001	broad.mit.edu	37	7	103801597	103801597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:103801597G>A	ENST00000545943.1	-	13	1301	c.676C>T	c.(676-678)Cca>Tca	p.P226S	ORC5_ENST00000297431.4_Missense_Mutation_p.P358S			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	358					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTGTCTAGTGGAAATGGTTTT	0.343000													21	92					0	0	0.002780	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717188	39717188	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:39717188C>T	ENST00000553728.1	+	4	1623	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	MIA2_ENST00000556784.1_Silent_p.F469F|MIA2_ENST00000280082.3_Silent_p.F470F																							CTTGGAACTTCCAGAACATTC	0.318000													21	74					0	0	0.003330	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522155	113522155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:113522155C>T	ENST00000284601.3	-	3	973	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	302					glycogen metabolic process	integral to membrane		p.R302Q(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTACATTTCGATTACTGGC	0.338000													18	92					0	0	0.004990	0	0
GCNT1	2650	broad.mit.edu	37	9	79117829	79117829	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:79117829G>T	ENST00000442371.1	+	3	1471	c.532G>T	c.(532-534)Gtg>Ttg	p.V178L	GCNT1_ENST00000536223.1_Missense_Mutation_p.V178L|GCNT1_ENST00000376730.4_Missense_Mutation_p.V178L|GCNT1_ENST00000444201.2_Missense_Mutation_p.V178L	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	178	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TAATGTCTTTGTGGCCAGCCG	0.463000													29	74					9.78306e-22	2.06445e-21	0.001786	1	0
FFAR3	2865	broad.mit.edu	37	19	35850642	35850642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:35850642C>T	ENST00000327809.4	+	2	1051	c.850C>T	c.(850-852)Caa>Taa	p.Q284*	FFAR3_ENST00000594310.1_Nonsense_Mutation_p.Q284*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	284						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCGGGTTCCAAGCCGACTT	0.602000													10	50					0	0	0.001855	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18817131	18817131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:18817131G>A	ENST00000380548.4	+	21	4169	c.3830G>A	c.(3829-3831)cGa>cAa	p.R1277Q		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1277						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAAACGTCACGAATGACAGTG	0.448000													3	7					0	0	0.004672	0	0
GPR50	9248	broad.mit.edu	37	X	150348646	150348646	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:150348646C>T	ENST00000218316.3	+	2	660	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	197					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GCATCCACTTCGTCCTCCCTC	0.537000													27	47					0	0	0.001512	0	0
CCDC54	84692	broad.mit.edu	37	3	107096900	107096900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:107096900G>A	ENST00000261058.1	+	1	713	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	156										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACATTGTCTAGAGATTCTGGA	0.408000													11	44					0	0	0.001368	0	0
GPR158	57512	broad.mit.edu	37	10	25839947	25839947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:25839947C>T	ENST00000376351.3	+	6	1806	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	483						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCGCTGTATTCTCCTAAGATG	0.423000													35	112					0	0	0.006999	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518272	84518272	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:84518272C>T	ENST00000331369.5	+	0	466																											AGCTGAAGATCCCTAAGAGCA	0.453000													9	45					0	0	0.004482	0	0
ST14	6768	broad.mit.edu	37	11	130079580	130079580	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:130079580C>T	ENST00000278742.5	+	19	2848	c.2430C>T	c.(2428-2430)tcC>tcT	p.S810S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	810	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GACCCCTGTCCAGCGTGGAGG	0.711000													6	24					0	0	0.001984	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671894	44671894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:44671894C>T	ENST00000454036.1	+	9	1314	c.1238C>T	c.(1237-1239)cCt>cTt	p.P413L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.P390L|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	413					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGACCACCCTTATGTCTTC	0.567000													55	206					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113318319	113318319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:113318319C>T	ENST00000297405.5	-	51	8232	c.7988G>A	c.(7987-7989)cGa>cAa	p.R2663Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2593Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2623Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2559Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2663	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGATGACAATCGATATCCATC	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	83					0	0	0.002096	0	0
LILRB4	11006	broad.mit.edu	37	19	55179188	55179188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55179188G>A	ENST00000391736.1	+	13	1459	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000391733.3_Missense_Mutation_p.E383K|LILRB4_ENST00000430952.2_Missense_Mutation_p.E381K|LILRB4_ENST00000270452.2_Missense_Mutation_p.E382K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	382						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACTGTCTGGGGAATTCCTGGA	0.592000													5	28					0	0	0.001168	0	0
CGNL1	84952	broad.mit.edu	37	15	57730313	57730313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:57730313C>T	ENST00000281282.5	+	2	194	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	39	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGGCAGGCTCCTACGGTGTC	0.478000													53	79					0	0	0.003610	0	0
BTBD16	118663	broad.mit.edu	37	10	124094415	124094415	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:124094415A>C	ENST00000368994.2	+	14	1438	c.1187A>C	c.(1186-1188)aAa>aCa	p.K396T	BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Missense_Mutation_p.K395T			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	395										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACTTATTCGAAAACGATTGCT	0.373000													10	96					0	0	0.001368	0	0
ADCY8	114	broad.mit.edu	37	8	131833660	131833660	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:131833660G>A	ENST00000286355.5	-	13	4774	c.2682C>T	c.(2680-2682)ttC>ttT	p.F894F	ADCY8_ENST00000377928.3_Silent_p.F763F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	894					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGTCCCCAGGAAATCTCTGT	0.458000										HNSCC(32;0.087)			6	36					0	0	0.001168	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372645	74372645	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:74372645G>A	ENST00000429810.2	-	0	1551																											ACCCTTGTCAGGGGGAACAAA	0.443000													4	33					0	0	0.001168	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666423	45666423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:45666423C>T	ENST00000270172.3	-	12	1504	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	DNMT3L_ENST00000418993.1_Missense_Mutation_p.E340K	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	340					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.E341delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AATTCTTCTTCCGAAACCAGA	0.617000													7	27					0	0	0.003080	0	0
BCAR3	8412	broad.mit.edu	37	1	94057855	94057855	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:94057855G>A	ENST00000370244.1	-	6	741	c.453C>T	c.(451-453)agC>agT	p.S151S	BCAR3_ENST00000370243.1_Silent_p.S151S|BCAR3_ENST00000370247.3_Silent_p.S60S|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000260502.6_Silent_p.S151S|RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000427243.1_RNA	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	151					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		ACCAGGCATGGCTGCGCAGGT	0.597000													13	47					0	0	0.002450	0	0
ESRP1	54845	broad.mit.edu	37	8	95680313	95680313	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:95680313G>A	ENST00000433389.2	+	10	1258	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ESRP1_ENST00000423620.2_Silent_p.K356K|ESRP1_ENST00000454170.2_Silent_p.K356K|ESRP1_ENST00000358397.5_Silent_p.K356K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	356	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTGGGGGAAAGGAAGGCATCC	0.527000													84	427					0	0	0.003610	0	0
ZNF883	169834	broad.mit.edu	37	9	115759580	115759580	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:115759580G>A	ENST00000427548.1	-	0	2233							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACACTGGTAGGGTTTCTCTC	0.388000													20	88					0	0	0.007413	0	0
IL2RB	3560	broad.mit.edu	37	22	37533707	37533707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:37533707C>T	ENST00000216223.5	-	6	655	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	153	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGGGAGATTTCCCAGCTTATG	0.597000													16	80					0	0	0.004007	0	0
TUBG2	27175	broad.mit.edu	37	17	40818629	40818629	+	Silent	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:40818629A>G	ENST00000251412.7	+	11	1366	c.1167A>G	c.(1165-1167)gaA>gaG	p.E389E		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	389					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGCTCTTTGAAAGTTCCTGCC	0.498000													14	36					0	0	0.004007	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749693	91749693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:91749693C>T	ENST00000389857.6	-	26	4696	c.4610G>A	c.(4609-4611)cGg>cAg	p.R1537Q	CCDC88C_ENST00000331194.7_Missense_Mutation_p.R61Q	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1537					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCTGGGTGCCGGGCGATGGG	0.637000													7	23					0	0	0.003080	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724872	13724872	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:13724872G>A	ENST00000279593.3	-	10	2246	c.2037C>T	c.(2035-2037)ccC>ccT	p.P679P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	679					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P679P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCGGAAAGGGGGTGAGAAGT	0.478000													10	40					0	0	0.006214	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:45459056C>T	ENST00000548424.1	+	0	448																											AATTGGAGTTCGTTTCCTTCC	0.443000													7	27					0	0	0.003080	0	0
LRIT2	340745	broad.mit.edu	37	10	85981822	85981822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:85981822G>A	ENST00000372113.4	-	3	1512	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	LRIT2_ENST00000538192.1_Missense_Mutation_p.R513C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	503						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCTTTCCTGCGATGAAGACAG	0.632000													17	66					0	0	0.006122	0	0
ZNF77	58492	broad.mit.edu	37	19	2933775	2933775	+	Silent	SNP	G	G	A	rs140487750		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:2933775G>A	ENST00000314531.4	-	4	1442	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTCGAAGGGAGGAGTGAC	0.502000													6	38					0	0	0.001168	0	0
PFAS	5198	broad.mit.edu	37	17	8170169	8170169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:8170169C>T	ENST00000314666.6	+	23	3053	c.2920C>T	c.(2920-2922)Cat>Tat	p.H974Y	PFAS_ENST00000545834.1_Missense_Mutation_p.H550Y	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	974					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGCTGGCCTCCATTGCCTGGA	0.667000													5	23					0	0	0.001984	0	0
REG1A	5967	broad.mit.edu	37	2	79348794	79348794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:79348794G>A	ENST00000233735.1	+	3	274	c.171G>A	c.(169-171)tgG>tgA	p.W57*		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	57	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GTGAGACCTGGGTTGATGCAG	0.557000													31	102					0	0	0.003755	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767880	54767880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:54767880G>A	ENST00000546970.1	-	5	527	c.238C>T	c.(238-240)Cga>Tga	p.R80*	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Nonsense_Mutation_p.R80*|ZNF385A_ENST00000551109.1_Nonsense_Mutation_p.R80*|ZNF385A_ENST00000394313.2_Nonsense_Mutation_p.R80*|ZNF385A_ENST00000338010.5_Nonsense_Mutation_p.R100*|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Nonsense_Mutation_p.R100*			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TTGACTCGTCGGGCGTGGCGA	0.577000													11	40					0	0	0.001368	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43231471	43231471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:43231471G>A	ENST00000263245.5	-	4	509	c.290C>T	c.(289-291)tCc>tTc	p.S97F	ARFGAP3_ENST00000437119.2_Intron|ARFGAP3_ENST00000429508.2_Intron	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	97	Arf-GAP.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GTCATTGGTGGAACACCCATG	0.463000													20	59					0	0	0.001882	0	0
DNAH7	56171	broad.mit.edu	37	2	196746545	196746545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:196746545C>T	ENST00000312428.6	-	36	6035	c.5935G>A	c.(5935-5937)Gga>Aga	p.G1979R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1979	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TTCCCAGTTCCTGTTGGTCCT	0.368000													13	70					0	0	0.001855	0	0
NTRK3	4916	broad.mit.edu	37	15	88476383	88476383	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:88476383C>T	ENST00000394480.1	-	16	2070	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	NTRK3_ENST00000542733.2_Silent_p.K485K|NTRK3_ENST00000558676.1_Silent_p.K575K|NTRK3_ENST00000557856.1_Silent_p.K575K|NTRK3_ENST00000355254.2_Silent_p.K583K|NTRK3_ENST00000360948.2_Silent_p.K583K|NTRK3_ENST00000357724.2_Silent_p.K575K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	583	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGAAATCCTTCCGGGCAG	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			25	31					0	0	0.006320	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944041	96944041	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:96944041G>A	ENST00000323853.5	-	39	5621	c.5544C>T	c.(5542-5544)atC>atT	p.I1848I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1848	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATTGGAGATGATCTCGATAA	0.507000													20	66					0	0	0.001216	0	0
RETSAT	54884	broad.mit.edu	37	2	85577962	85577962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:85577962G>A	ENST00000295802.4	-	3	650	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	RETSAT_ENST00000263854.6_Missense_Mutation_p.L180F|RETSAT_ENST00000457495.2_Missense_Mutation_p.L119F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	180					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTCCTTGAGGCCCTGAATG	0.488000													20	86					0	0	0.001216	0	0
MIR1275	100302123	broad.mit.edu	37	6	33967758	33967758	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33967758C>T	ENST00000408770.1	-	0	70					NR_031681.1																						TTCCCTCTGCCTTGGGGAAAA	0.517000													12	44					0	0	0.001855	0	0
DERA	51071	broad.mit.edu	37	12	16111241	16111241	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:16111241C>T	ENST00000428559.2	+	3	461	c.249C>T	c.(247-249)ctC>ctT	p.L83L	DERA_ENST00000532964.1_Silent_p.L83L|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	83					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				GGGAAGATCTCTTAAAAGCTT	0.343000													5	10					0	0	0.000602	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271932	36271932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:36271932G>A	ENST00000007510.4	+	11	1084	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G314S|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G178S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	314					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGGGTGTTTGGCTGCGATCT	0.711000													14	44					0	0	0.003163	0	0
UEVLD	55293	broad.mit.edu	37	11	18566188	18566188	+	Missense_Mutation	SNP	C	C	T	rs146073687	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:18566188C>T	ENST00000396197.3	-	9	1070	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	UEVLD_ENST00000541984.1_Missense_Mutation_p.E191K|UEVLD_ENST00000535484.1_Missense_Mutation_p.E310K|UEVLD_ENST00000320750.6_Missense_Mutation_p.E326K|UEVLD_ENST00000379387.4_Missense_Mutation_p.E326K|UEVLD_ENST00000543987.1_Missense_Mutation_p.E348K|UEVLD_ENST00000540666.1_5'UTR	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	348					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTCCTTGCTCGCCAATAACC	0.433000													21	91					0	0	0.002299	0	0
PPP4R1	9989	broad.mit.edu	37	18	9549287	9549287	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:9549287A>T	ENST00000400556.3	-	19	2670	c.2597T>A	c.(2596-2598)cTc>cAc	p.L866H	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L849H	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	866					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ATGCGGCATGAGATGCACAGC	0.468000													28	97					0	0	0.001786	0	0
ARID2	196528	broad.mit.edu	37	12	46245486	46245486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:46245486C>T	ENST00000334344.6	+	15	3752	c.3580C>T	c.(3580-3582)Cag>Tag	p.Q1194*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q804*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1045*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1194					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAATGCAACTCAGCTCATTGC	0.498000			"""N, S, F"""		hepatocellular carcinoma								13	58					0	0	0.001855	0	0
SCARB1	949	broad.mit.edu	37	12	125292418	125292418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:125292418G>A	ENST00000339570.5	-	7	1094	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SCARB1_ENST00000541205.1_Missense_Mutation_p.R259C|SCARB1_ENST00000540495.1_Missense_Mutation_p.R263C|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.R300C|SCARB1_ENST00000546215.1_Missense_Mutation_p.R300C|SCARB1_ENST00000376788.1_Missense_Mutation_p.R200C|SCARB1_ENST00000261693.6_Missense_Mutation_p.R300C|SCARB1_ENST00000544327.1_Missense_Mutation_p.R246C	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	300					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)	GCCACGAAGCGATAGGTGGGG	0.577000													18	76					0	0	0.007413	0	0
SULT4A1	25830	broad.mit.edu	37	22	44221993	44221993	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:44221993C>T	ENST00000330884.4	-	7	863	c.742_splice	c.e7-1	p.G248_splice	SULT4A1_ENST00000540422.1_Splice_Site_p.G135_splice	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	248					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CCCAACTCTTCCTGAAACGCA	0.473000													14	64					0	0	0.003163	0	0
MSI2	124540	broad.mit.edu	37	17	55335632	55335632	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:55335632G>A	ENST00000284073.2	+	4	396	c.185_splice	c.e4-1	p.G63_splice	MSI2_ENST00000416426.2_Splice_Site_p.G41_splice|MSI2_ENST00000322684.3_Splice_Site_p.G59_splice	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	63	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCCTTTCAGAGGCTTCGGTTT	0.448000			T	HOXA9	CML								61	131					0	0	0.003610	0	0
PKD1	5310	broad.mit.edu	37	16	2159956	2159956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:2159956G>A	ENST00000262304.4	-	15	5420	c.5212C>T	c.(5212-5214)Ctc>Ttc	p.L1738F	PKD1_ENST00000423118.1_Missense_Mutation_p.L1738F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1738	PKD 13.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGGCACTGAGGGTGACGCTT	0.637000													4	17					0	0	0.000248	0	0
BAI3	577	broad.mit.edu	37	6	69348983	69348983	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:69348983C>A	ENST00000370598.1	+	3	1237	c.416C>A	c.(415-417)cCa>cAa	p.P139Q		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	139	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTAATTTCCCAGGATTACAG	0.338000													9	35					3.09899e-07	6.50262e-07	0.004482	1	0
ELFN2	114794	broad.mit.edu	37	22	37771307	37771307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:37771307C>T	ENST00000402918.1	-	3	1053	c.268G>A	c.(268-270)Gag>Aag	p.E90K	ELFN2_ENST00000349653.3_Missense_Mutation_p.E90K|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	90						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TAGGAGATCTCGTTCTTGGTG	0.597000													29	64					0	0	0.006320	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789918	8789918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:8789918G>A	ENST00000447110.1	-	13	2034	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	PIK3R5_ENST00000584803.1_Splice_Site_p.S636_splice|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S637F	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	637					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGCCTTCAGGGACTGCTGTGG	0.592000													17	93					0	0	0.001216	0	0
ADAM18	8749	broad.mit.edu	37	8	39564383	39564383	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:39564383C>T	ENST00000265707.5	+	18	2022	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	ADAM18_ENST00000379866.1_Silent_p.S635S|ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Silent_p.S73S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	659					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGTTTGGTTCCCCAGGGGGTA	0.318000													18	92					0	0	0.002299	0	0
SSX6	280657	broad.mit.edu	37	X	47969934	47969934	+	Translation_Start_Site	SNP	T	T	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:47969934T>G	ENST00000319275.3	+	0	209				SSX6_ENST00000376932.2_Missense_Mutation_p.I46S																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						TCGGAGAAAATCAGCTGTGTG	0.408000													16	63					0	0	0.006122	0	0
C11orf45	219833	broad.mit.edu	37	11	128772520	128772520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:128772520C>T	ENST00000310799.3	-	4	563	c.370G>A	c.(370-372)Gat>Aat	p.D124N	C11orf45_ENST00000524878.1_Missense_Mutation_p.D124N|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000530168.1_5'UTR|KCNJ5_ENST00000529694.1_Intron	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	124						extracellular region				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)		TCTCTACTATCATGGGCCTTG	0.587000													7	32					0	0	0.001984	0	0
C17orf67	339210	broad.mit.edu	37	17	54892285	54892285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:54892285C>T	ENST00000397861.2	-	6	1380	c.101G>A	c.(100-102)aGa>aAa	p.R34K	C17orf67_ENST00000397862.2_Missense_Mutation_p.R58K|C17orf67_ENST00000575658.1_Missense_Mutation_p.R58K			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	58						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TCGCCGAGATCTTAGGAGCTG	0.512000													94	435					0	0	0.003610	0	0
FUT9	10690	broad.mit.edu	37	6	96652049	96652049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:96652049C>T	ENST00000302103.5	+	3	1344	c.1018C>T	c.(1018-1020)Cat>Tat	p.H340Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	340					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGCTTGCGATCATGTGAAAAG	0.318000													15	43					0	0	0.004007	0	0
URB2	9816	broad.mit.edu	37	1	229772138	229772138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:229772138C>T	ENST00000258243.2	+	4	1914	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	593						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCCCAGGCCCAGAGCCAGAG	0.597000													18	115					0	0	0.004990	0	0
EXOC7	23265	broad.mit.edu	37	17	74084194	74084194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:74084194C>T	ENST00000607838.1	-	12	1472	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EXOC7_ENST00000332065.5_Missense_Mutation_p.D406N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D429N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D460N|EXOC7_ENST00000589210.1_Missense_Mutation_p.D437N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D396N|EXOC7_ENST00000335146.7_Missense_Mutation_p.D488N	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	488					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TACTCCTTGTCCGGGTCATTC	0.632000													44	90					0	0	0.003610	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	G	A	rs142743963	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:4869859G>A	ENST00000322101.2	-	1	655	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000													14	73					0	0	0.003163	0	0
PRSS58	136541	broad.mit.edu	37	7	141955402	141955402	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:141955402G>A	ENST00000552471.1	-	2	451	c.132C>T	c.(130-132)gtC>gtT	p.V44V	PRSS58_ENST00000547058.2_Silent_p.V44V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGTGGATCAGGACTCCAGCGC	0.493000													23	57					0	0	0.002299	0	0
COL4A4	1286	broad.mit.edu	37	2	227915811	227915811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:227915811C>T	ENST00000396625.3	-	33	3239	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1011E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1011	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTGTGAAATCCAGGTGGTCC	0.547000													21	92					0	0	0.001882	0	0
UBE3D	90025	broad.mit.edu	37	6	83733701	83733701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:83733701G>A	ENST00000369747.3	-	6	846	c.724C>T	c.(724-726)Cct>Tct	p.P242S		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	242	Interaction with UBE2C.					cytoplasm	ligase activity										GGTATGATAGGAAAACTCCTC	0.269000													15	51					0	0	0.007413	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992828	96992828	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:96992828C>T	ENST00000361124.4	+	1	894	c.483C>T	c.(481-483)gtC>gtT	p.V161V	ITPRIPL1_ENST00000536814.1_Silent_p.V145V|ITPRIPL1_ENST00000542887.1_Silent_p.V145V|ITPRIPL1_ENST00000439118.2_Silent_p.V153V	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	153						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTCCCTGTCACCTCTTACA	0.532000													16	57					0	0	0.003163	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807904	18807904	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:18807904G>A	ENST00000400664.1	+	1	481	c.429G>A	c.(427-429)caG>caA	p.Q143Q		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	143						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCAGCCAGGAAACCAGAA	0.637000													8	20					0	0	0.003080	0	0
LRTM1	57408	broad.mit.edu	37	3	54952651	54952651	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:54952651G>A	ENST00000273286.5	-	3	1035	c.873C>T	c.(871-873)atC>atT	p.I291I	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Silent_p.I215I	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	291						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CAACGCCAGTGATGATGACAG	0.577000													21	77					0	0	0.003330	0	0
SVIL	6840	broad.mit.edu	37	10	29821661	29821661	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:29821661G>A	ENST00000375398.2	-	10	2084	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Silent_p.T545T			O95425	SVIL_HUMAN	supervillin	545					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACAGAGAGCGGGTACGGACCT	0.567000													27	121					0	0	0.001512	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558784	9558784	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:9558784G>T	ENST00000360635.3	-	3	939	c.43C>A	c.(43-45)Caa>Aaa	p.Q15K	ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.Q15K|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.Q15K|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.Q15K|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.Q15K|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.Q15K			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	15	Ser/Thr-rich.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	p.Q15K(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGCTACTTTGGGAACTGCTA	0.393000													7	291					0.00448238	0.00930031	0.004482	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6534523	6534523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:6534523G>A	ENST00000377748.1	-	7	1155	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	PLEKHG5_ENST00000544978.1_Missense_Mutation_p.L143F|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.L199F|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.L143F|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.L143F|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.L220F|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.L143F|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.L143F|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.L212F|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.L180F|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.L222F|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.L143F	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	199					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TTGACACGAAGGTAGTGTCCC	0.617000													4	20					0	0	0.001168	0	0
AKAP13	11214	broad.mit.edu	37	15	86198668	86198668	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:86198668C>T	ENST00000394518.2	+	11	4490	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.A1465A|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1465					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						AGCATTTGGCCTGTGATATCA	0.483000													19	20					0	0	0.001216	0	0
BACH2	60468	broad.mit.edu	37	6	90648048	90648048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:90648048C>T	ENST00000257749.4	-	8	2565	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	BACH2_ENST00000537989.1_Missense_Mutation_p.D620N|BACH2_ENST00000343122.3_Missense_Mutation_p.D620N	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	620						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTGATTTGATCTACAGGAAAA	0.378000													8	46					0	0	0.004482	0	0
DNAH10	196385	broad.mit.edu	37	12	124317687	124317687	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:124317687G>A	ENST00000409039.3	+	26	4243	c.4218G>A	c.(4216-4218)tgG>tgA	p.W1406*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1406	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAGACACGTGGGAAAATATGA	0.443000													4	19					0	0	0.000248	0	0
APOL3	80833	broad.mit.edu	37	22	36537945	36537945	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:36537945C>T	ENST00000424878.2	-	0	2060				APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_De_novo_Start_OutOfFrame|APOL3_ENST00000349314.2_Missense_Mutation_p.R171H|APOL3_ENST00000361710.2_De_novo_Start_OutOfFrame|APOL3_ENST00000397293.2_Missense_Mutation_p.R100H			O95236	APOL3_HUMAN	apolipoprotein L, 3						inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCAAGGGCACGAAGCTTTTC	0.498000													31	74					0	0	0.002836	0	0
SMG9	56006	broad.mit.edu	37	19	44254780	44254780	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:44254780C>T	ENST00000601170.1	-	2	428	c.114G>A	c.(112-114)gaG>gaA	p.E38E	SMG9_ENST00000270066.6_Silent_p.E38E			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TGTAGTCCCTCTCCCGACCAC	0.587000													14	66					0	0	0.004007	0	0
NWD1	284434	broad.mit.edu	37	19	16910870	16910870	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:16910870T>C	ENST00000524140.2	+	17	4051	c.3633T>C	c.(3631-3633)ttT>ttC	p.F1211F	NWD1_ENST00000552788.1_Silent_p.F1211F|NWD1_ENST00000549814.1_Silent_p.F1169F|NWD1_ENST00000523826.1_Silent_p.F1005F|NWD1_ENST00000379808.3_Silent_p.F1211F|NWD1_ENST00000339803.6_Silent_p.F1076F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1211							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCACCATTTCTGGACCGCA	0.567000													9	37					0	0	0.004482	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559634	44559634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:44559634C>T	ENST00000332567.4	-	1	2354	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	668					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.E668K(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCCCATTTTCGGGGTCAGCG	0.577000													30	100					0	0	0.001786	0	0
ADAM28	10863	broad.mit.edu	37	8	24167700	24167700	+	Silent	SNP	G	G	A	rs150620720		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:24167700G>A	ENST00000265769.4	+	4	362	c.252G>A	c.(250-252)acG>acA	p.T84T	ADAM28_ENST00000437154.2_Silent_p.T84T|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	84					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGCTACACGGAAACATATT	0.398000													10	18					0	0	0.006214	0	0
SPTBN5	51332	broad.mit.edu	37	15	42143348	42143348	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:42143348T>A	ENST00000320955.6	-	65	10971	c.10743_splice	c.e65-1	p.K3582_splice		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3582	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAAGCTACTTTCTGAGGAGAG	0.622000													10	11					0	0	0.000673	0	0
GPR112	139378	broad.mit.edu	37	X	135428106	135428106	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:135428106C>T	ENST00000394143.1	+	6	2532	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	GPR112_ENST00000394141.1_Silent_p.S542S|GPR112_ENST00000370652.1_Silent_p.S747S|GPR112_ENST00000287534.4_Silent_p.S684S|GPR112_ENST00000412101.1_Silent_p.S542S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	747					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAACCACATCCATAACCAATA	0.383000													13	27					0	0	0.001855	0	0
ARMC9	80210	broad.mit.edu	37	2	232146835	232146835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:232146835G>A	ENST00000349938.4	+	17	1809	c.1615G>A	c.(1615-1617)Gca>Aca	p.A539T	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	539							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCGTGAGGAAGCAAGAGCAAT	0.448000													25	107					0	0	0.004656	0	0
MICALL2	79778	broad.mit.edu	37	7	1488346	1488346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:1488346C>T	ENST00000297508.7	-	3	419	c.244G>A	c.(244-246)Gag>Aag	p.E82K	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	82	CH.					cytoplasm|cytoskeleton	zinc ion binding	p.E82*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACCATGTCCTCGGCATCCAGC	0.642000													17	120					0	0	0.001882	0	0
PLIN4	729359	broad.mit.edu	37	19	4513459	4513459	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:4513459C>T	ENST00000301286.3	-	3	470	c.471G>A	c.(469-471)acG>acA	p.T157T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	157	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CAGTGGACACCGTGTCCTTGG	0.642000													9	38					0	0	0.000673	0	0
PDE1C	5137	broad.mit.edu	37	7	31904663	31904663	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:31904663C>A	ENST00000396184.3	-	8	847	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	PDE1C_ENST00000396182.2_Missense_Mutation_p.A215S|PDE1C_ENST00000396193.1_Missense_Mutation_p.A275S|PDE1C_ENST00000321453.7_Missense_Mutation_p.A215S|PDE1C_ENST00000396191.1_Missense_Mutation_p.A215S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	215	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACTTCCAGGGCCTCCACAAAT	0.438000													13	52					2.32078e-09	4.88074e-09	0.003163	1	0
KIR3DL3	115653	broad.mit.edu	37	19	55247300	55247300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55247300G>A	ENST00000291860.1	+	7	1086	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	356						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTGTAATGGACCAAGAGC	0.522000													14	89					0	0	0.001882	0	0
PREX2	80243	broad.mit.edu	37	8	69050737	69050737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:69050737G>A	ENST00000288368.4	+	33	4349	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1358					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATCAGAAGAGGAACCTCTGGT	0.289000													12	70					0	0	0.001855	0	0
TTLL6	284076	broad.mit.edu	37	17	46867348	46867348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:46867348C>T	ENST00000393382.3	-	10	1486	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	TTLL6_ENST00000433608.2_Missense_Mutation_p.E142K	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	401						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTCTCCTCCTCCAAGACTTTC	0.537000													13	57					0	0	0.002450	0	0
PVRL1	5818	broad.mit.edu	37	11	119549388	119549388	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:119549388G>C	ENST00000264025.3	-	2	697	c.167C>G	c.(166-168)cCg>cGg	p.P56R	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.P56R|PVRL1_ENST00000340882.2_Missense_Mutation_p.P56R	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	56	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCTGGGAAGCGGGTTGGCAAA	0.592000													3	21					0	0	0.004672	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95709713	95709713	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:95709713C>T	ENST00000324972.6	+	16	1933	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	DYNC1I1_ENST00000359388.4_Silent_p.A543A|DYNC1I1_ENST00000437599.1_Silent_p.A560A|DYNC1I1_ENST00000537881.1_Silent_p.A543A|DYNC1I1_ENST00000457059.1_Silent_p.A563A|DYNC1I1_ENST00000447467.2_Silent_p.A563A	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	580					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGCATCCGCCCTAAACCGTG	0.463000													45	81					0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55106787	55106787	+	Missense_Mutation	SNP	C	C	T	rs151320443		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55106787C>T	ENST00000453777.1	+	5	751	c.581C>T	c.(580-582)tCg>tTg	p.S194L	LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.S194L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	194	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			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)		CGCAGGTGGTCGTACAGGTGC	0.572000													36	110					0	0	0.003755	0	0
HYDIN	54768	broad.mit.edu	37	16	70863536	70863536	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:70863536C>T	ENST00000393567.2	-	81	14247	c.14097G>A	c.(14095-14097)gaG>gaA	p.E4699E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4699										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCTTGCGGTTCTCCAAGTTCA	0.562000													5	35					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92086160	92086160	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:92086160G>A	ENST00000298047.6	+	1	899	c.882G>A	c.(880-882)gcG>gcA	p.A294A	FAT3_ENST00000409404.2_Silent_p.A294A|FAT3_ENST00000541502.1_Silent_p.A294A|FAT3_ENST00000525166.1_Silent_p.A144A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	294	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGATGGAGCGAATGGAGAGA	0.438000										TCGA Ovarian(4;0.039)			121	455					0	0	0.003610	0	0
TNPO1	3842	broad.mit.edu	37	5	72192969	72192969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:72192969G>A	ENST00000337273.5	+	20	2755	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	TNPO1_ENST00000506351.2_Missense_Mutation_p.E769K|TNPO1_ENST00000523768.1_Missense_Mutation_p.E727K|TNPO1_ENST00000454282.1_Missense_Mutation_p.E727K	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	777					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.E769Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GACGTTGTTAGAGAATACAGG	0.373000													10	40					0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9065698	9065698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9065698C>T	ENST00000397910.4	-	3	21951	c.21748G>A	c.(21748-21750)Gag>Aag	p.E7250K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7252	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CTGCCTGTCTCCCTCAATTTA	0.483000													42	125					0	0	0.003610	0	0
SGCZ	137868	broad.mit.edu	37	8	14412356	14412356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:14412356C>T	ENST00000382080.1	-	2	834	c.119G>A	c.(118-120)gGa>gAa	p.G40E	SGCZ_ENST00000421524.2_Missense_Mutation_p.G27E	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	27					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCATAAATTCCCACTGGGTA	0.383000													28	166					0	0	0.001512	0	0
SECISBP2	79048	broad.mit.edu	37	9	91949551	91949551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:91949551C>T	ENST00000375807.3	+	7	1066	c.995C>T	c.(994-996)gCa>gTa	p.A332V	SECISBP2_ENST00000339901.4_Missense_Mutation_p.A259V|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A264V	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	332					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCTTCATCAGCAGATCCTAAA	0.368000													17	45					0	0	0.004007	0	0
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:10934997C>T	ENST00000298232.7	-	14	1109	c.741_splice	c.e14-1	p.E248_splice	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.E266_splice|TPTE_ENST00000342420.5_Splice_Site_p.E228_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	266	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CGCACAACTTCCTAAAAAAGA	0.333000													6	140					0	0	0.001168	0	0
XIST	7503	broad.mit.edu	37	X	73066285	73066285	+	RNA	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:73066285A>G	ENST00000429829.1	-	0	6303					NR_001564.2																						GACGATTATAATCACACACAA	0.488000													20	23					0	0	0.001216	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706742	26706742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:26706742C>T	ENST00000529632.2	+	7	1817	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	SEZ6L_ENST00000248933.6_Missense_Mutation_p.R541C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R314C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R541C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R541C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R314C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.R541C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	541	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAACACCATCCGCATCGAGTT	0.592000													16	129					0	0	0.006122	0	0
PDPR	55066	broad.mit.edu	37	16	70176285	70176285	+	Silent	SNP	C	C	T	rs143406287	by1000genomes	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:70176285C>T	ENST00000288050.4	+	12	2421	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PDPR_ENST00000398122.3_Silent_p.P388P|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Silent_p.P488P	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	488					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTGTTCCCCCCGACAAGGGTA	0.433000													5	69					0	0	0.000602	0	0
NRXN3	9369	broad.mit.edu	37	14	79454427	79454427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:79454427G>A	ENST00000554719.1	+	12	2577	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E696K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCAACAATGGGAGGGCTTCAC	0.448000													12	59					0	0	0.001368	0	0
NME9	347736	broad.mit.edu	37	3	138023832	138023832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:138023832C>T	ENST00000383180.2	-	10	728	c.491G>A	c.(490-492)gGa>gAa	p.G164E	NME9_ENST00000484930.1_Missense_Mutation_p.G162E|NME9_ENST00000333911.3_Missense_Mutation_p.G225E|NME9_ENST00000341790.5_Missense_Mutation_p.G162E|NME9_ENST00000317876.4_Missense_Mutation_p.G164E|NME9_ENST00000536478.1_Missense_Mutation_p.G164E	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	225	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GTGGCTTGGTCCACTGCACAT	0.607000													90	387					0	0	0.003610	0	0
NGFR	4804	broad.mit.edu	37	17	47587860	47587860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:47587860C>T	ENST00000172229.3	+	4	780	c.655C>T	c.(655-657)Cca>Tca	p.P219S	NGFR_ENST00000504201.1_Missense_Mutation_p.P125S|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	219	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGAGGCACCTCCAGAACAAGA	0.637000													14	58					0	0	0.001855	0	0
PLA2G6	8398	broad.mit.edu	37	22	38541618	38541618	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:38541618G>A	ENST00000332509.3	-	3	435	c.252C>T	c.(250-252)ttC>ttT	p.F84F	PLA2G6_ENST00000335539.3_Silent_p.F84F|PLA2G6_ENST00000402064.1_Silent_p.F84F	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	84					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AATACTGATGGAAATTCACTA	0.577000													9	50					0	0	0.000978	0	0
FAM49A	81553	broad.mit.edu	37	2	16740826	16740826	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:16740826C>G	ENST00000381323.3	-	10	959	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	FAM49A_ENST00000355549.2_Missense_Mutation_p.E247Q|FAM49A_ENST00000406434.1_Missense_Mutation_p.E247Q	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	247						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATCAGGGTCTCTTCACTCGTA	0.502000													21	76					0	0	0.001523	0	0
IGSF10	285313	broad.mit.edu	37	3	151161558	151161558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:151161558G>A	ENST00000282466.3	-	5	5176	c.5177C>T	c.(5176-5178)tCc>tTc	p.S1726F		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	1726	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region				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)			AAACAGATTGGATGCGGAACA	0.512000													6	41					0	0	0.001168	0	0
CACNA1G	8913	broad.mit.edu	37	17	48695601	48695601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:48695601C>T	ENST00000352832.5	+	30	5594	c.5222C>T	c.(5221-5223)cCc>cTc	p.P1741L	CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1775L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1741L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1741L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1757L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1764L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1741L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1764L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1752L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1741L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1775L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1757L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1768L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1775L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1752L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1750L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1764L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1723L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1730L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1734L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1730L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1718L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1782L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1764L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1775L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1775					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.P1775H(2)|p.P1741H(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGACACACCCCTGTGAGGGC	0.612000													26	61					0	0	0.005443	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	45					0	0	0.001168	0	0
KCNH2	3757	broad.mit.edu	37	7	150648678	150648678	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:150648678G>A	ENST00000392968.2	-	5	2635	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	KCNH2_ENST00000330883.4_Silent_p.G261G|KCNH2_ENST00000430723.3_Silent_p.G601G|KCNH2_ENST00000262186.5_Silent_p.G601G			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	601			Missing (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGCCGCCCAGGCCGCTGCTGT	0.607000													26	58					0	0	0.005443	0	0
CMYA5	202333	broad.mit.edu	37	5	79054694	79054694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:79054694G>A	ENST00000446378.2	+	7	11260	c.11229G>A	c.(11227-11229)atG>atA	p.M3743I	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3743	Fibronectin type-III 1.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTACTGCATGGAGGAGCCAC	0.373000													24	107					0	0	0.006320	0	0
WNK4	65266	broad.mit.edu	37	17	40934877	40934877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:40934877G>A	ENST00000246914.5	+	2	741	c.720G>A	c.(718-720)tgG>tgA	p.W240*		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	240	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGATTCGTGGAAGTCGGTGC	0.602000													4	33					0	0	0.000602	0	0
DDX4	54514	broad.mit.edu	37	5	55088625	55088625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:55088625G>A	ENST00000505374.1	+	17	1551	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	DDX4_ENST00000354991.5_Missense_Mutation_p.E453K|DDX4_ENST00000353507.5_Missense_Mutation_p.E453K|DDX4_ENST00000514278.2_Missense_Mutation_p.E467K|DDX4_ENST00000511853.1_Missense_Mutation_p.E338K	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	487	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTCCAGAGGAAATTCAAAG	0.318000													6	23					0	0	0.001168	0	0
RNF152	220441	broad.mit.edu	37	18	59483414	59483414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:59483414G>A	ENST00000312828.3	-	2	1382	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	95					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CCATTGCTGGGAAGTTTGATG	0.647000													7	38					0	0	0.001984	0	0
UNC13A	23025	broad.mit.edu	37	19	17756850	17756850	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:17756850G>A	ENST00000428389.2	-	19	2378	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V	UNC13A_ENST00000252773.7_Silent_p.V705V|UNC13A_ENST00000551649.1_Silent_p.V705V|UNC13A_ENST00000552293.1_Silent_p.V705V|UNC13A_ENST00000550896.1_Silent_p.V703V|UNC13A_ENST00000519716.2_Silent_p.V705V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	705					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGTCTTCCCGACCTGGACGG	0.567000													10	25					0	0	0.006214	0	0
PRPF39	55015	broad.mit.edu	37	14	45571737	45571737	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:45571737T>C	ENST00000355765.6	+	5	745	c.575T>C	c.(574-576)tTt>tCt	p.F192S		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	192					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TTCAGAACTTTTGAGCATGCT	0.313000													11	54					0	0	0.000978	0	0
SLC6A7	6534	broad.mit.edu	37	5	149580710	149580710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:149580710G>A	ENST00000230671.2	+	6	1153	c.782G>A	c.(781-783)gGa>gAa	p.G261E	SLC6A7_ENST00000524041.1_Missense_Mutation_p.G261E	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	261						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CTGGTCCGCGGAGTCACCCTC	0.597000													15	58					0	0	0.003163	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369866	20369866	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:20369866G>A	ENST00000593655.1	-	0	199																											AATGTTGAAGGAGTTGGTGTT	0.413000													6	34					0	0	0.001168	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176070207	176070207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:176070207G>A	ENST00000318682.6	+	4	724	c.140G>A	c.(139-141)gGg>gAg	p.G47E	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.G47E	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	47					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTGAGAGGGAAGGCCCGG	0.612000													8	58					0	0	0.000673	0	0
CD4	920	broad.mit.edu	37	12	6909591	6909591	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:6909591C>T	ENST00000011653.4	+	3	426	c.168C>T	c.(166-168)tcC>tcT	p.S56S	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	56	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				GGAAAAACTCCAACCAGATAA	0.478000													10	50					0	0	0.000673	0	0
ITGAX	3687	broad.mit.edu	37	16	31374614	31374614	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:31374614C>T	ENST00000268296.4	+	14	1750	c.1629C>T	c.(1627-1629)gcC>gcT	p.A543A	ITGAX_ENST00000562522.1_Silent_p.A543A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	543					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.A543A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCATCGGGGCCCCAGGAGAGG	0.642000													46	131					0	0	0.003610	0	0
IGSF9B	22997	broad.mit.edu	37	11	133806053	133806053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:133806053G>A	ENST00000321016.8	-	6	946	c.716C>T	c.(715-717)aCc>aTc	p.T239I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T239I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	239	Ig-like 3.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GATGTTGACGGTGATGTTCTC	0.617000													4	12					0	0	0.000248	0	0
GGA2	23062	broad.mit.edu	37	16	23497377	23497377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:23497377G>A	ENST00000309859.4	-	8	839	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	253	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.R253G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CCTGGCCTGCGGTACATGCTC	0.552000													23	79					0	0	0.004656	0	0
SKP1	6500	broad.mit.edu	37	5	133509699	133509699	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:133509699C>T	ENST00000353411.6	-	2	198	c.15G>A	c.(13-15)aaG>aaA	p.K5K	SKP1_ENST00000522855.1_Silent_p.K5K|SKP1_ENST00000521216.1_Silent_p.K5K|SKP1_ENST00000522552.1_Silent_p.K5K|SKP1_ENST00000517625.1_Silent_p.K5K	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTCTGCAACTTAATTGAAG	0.338000													5	46					0	0	0.001168	0	0
TTI1	9675	broad.mit.edu	37	20	36640040	36640040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:36640040C>T	ENST00000373448.2	-	3	2417	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	TTI1_ENST00000449821.1_Missense_Mutation_p.D727N|TTI1_ENST00000373447.3_Missense_Mutation_p.D727N	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	727							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGGTTAGCATCTGAGTTCCGC	0.468000													12	35					0	0	0.002450	0	0
ITGA1	3672	broad.mit.edu	37	5	52223444	52223444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:52223444C>T	ENST00000282588.6	+	20	3102	c.2644C>T	c.(2644-2646)Cat>Tat	p.H882Y		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	882					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGAATCTAATCATAATATCAC	0.348000													16	97					0	0	0.001216	0	0
CAPN2	824	broad.mit.edu	37	1	223943208	223943208	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:223943208C>T	ENST00000295006.5	+	10	1471	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	CAPN2_ENST00000433674.2_Silent_p.L310L	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	388	Domain III.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CCCTCAGTACCTGATCAAGCT	0.622000													26	45					0	0	0.006320	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710501	140710501	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140710501T>C	ENST00000517417.1	+	1	250	c.250T>C	c.(250-252)Ttg>Ctg	p.L84L	PCDHGA1_ENST00000378105.3_Silent_p.L84L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGCAGCTTGATCACCGC	0.552000													34	151					0	0	0.002836	0	0
OR7C2	26658	broad.mit.edu	37	19	15053071	15053071	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:15053071C>T	ENST00000248072.3	+	1	771	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GCCTTGGGGTCTATCTCAGTT	0.547000													26	99					0	0	0.003954	0	0
TBL3	10607	broad.mit.edu	37	16	2025407	2025407	+	Missense_Mutation	SNP	C	C	T	rs141126567		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:2025407C>T	ENST00000568546.1	+	9	901	c.773C>T	c.(772-774)cCa>cTa	p.P258L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	258					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GTGAAGTCCCCAGGGCTGTAC	0.632000													19	78					0	0	0.001882	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396572	57396572	+	Silent	SNP	C	C	T	rs140799751		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:57396572C>T	ENST00000300101.2	-	2	2215	c.2130G>A	c.(2128-2130)ccG>ccA	p.P710P		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTCAACTGTCCGGGTTCTTAT	0.552000													17	52					0	0	0.007413	0	0
KATNB1	10300	broad.mit.edu	37	16	57789407	57789407	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:57789407G>A	ENST00000379661.3	+	16	1958		c.e16+1			NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1						cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CGACATCAAGGCAAGTGCCCA	0.647000													14	70					0	0	0.001855	0	0
TAOK1	57551	broad.mit.edu	37	17	27818848	27818848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:27818848C>T	ENST00000261716.3	+	10	1315	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TAOK1_ENST00000536202.1_Missense_Mutation_p.P266S	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	266	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCAGAAAATCCCTCAAGATCG	0.333000													22	105					0	0	0.007291	0	0
ACTL9	284382	broad.mit.edu	37	19	8807915	8807915	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:8807915G>A	ENST00000324436.3	-	1	1257	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	379						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGATCCATACGGAGAAATTCC	0.657000													13	25					0	0	0.002450	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315295	154315295	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154315295C>T	ENST00000368489.3	+	15	1410	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	456					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGACTTCTCCTTCAATCCTC	0.557000													17	66					0	0	0.001216	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536265	108536265	+	Silent	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:108536265A>G	ENST00000374688.1	+	6	1328	c.618A>G	c.(616-618)gcA>gcG	p.A206A	TMEM38B_ENST00000374692.3_Silent_p.A260A			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	260						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						AAAGTGAAGCAAAGTCACCTT	0.398000													16	57					0	0	0.003163	0	0
AHR	196	broad.mit.edu	37	7	17379731	17379731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:17379731C>T	ENST00000242057.4	+	10	2925	c.2282C>T	c.(2281-2283)cCt>cTt	p.P761L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	761					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAATAACTCCTCAGACATGT	0.468000													13	95					0	0	0.003163	0	0
UNC5D	137970	broad.mit.edu	37	8	35542226	35542226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:35542226G>A	ENST00000453357.2	+	6	919	c.863G>A	c.(862-864)gGa>gAa	p.G288E	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Missense_Mutation_p.G293E|UNC5D_ENST00000404895.2_Missense_Mutation_p.G293E|UNC5D_ENST00000420357.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	293	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTTTGTGAGGGAATGTCAGTG	0.502000													22	120					0	0	0.002299	0	0
GAP43	2596	broad.mit.edu	37	3	115439676	115439676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:115439676C>T	ENST00000393780.3	+	4	1240	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	GAP43_ENST00000305124.6_Missense_Mutation_p.R222W	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	222					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGAAAGTGCCCGGCAGGACGA	0.478000													26	201					0	0	0.007291	0	0
MYH4	4622	broad.mit.edu	37	17	10353807	10353807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10353807C>T	ENST00000255381.2	-	30	4254	c.4144G>A	c.(4144-4146)Gac>Aac	p.D1382N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGATGGCGTCCGTCTCGTAC	0.537000													18	129					0	0	0.001216	0	0
PYGM	5837	broad.mit.edu	37	11	64526158	64526158	+	Silent	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:64526158A>G	ENST00000164139.3	-	2	660	c.262T>C	c.(262-264)Tta>Cta	p.L88L	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	88					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TAGAACTCTAAAGACAGGTAG	0.592000													5	46					0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923328	9923328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:9923328C>T	ENST00000396573.2	-	10	2268	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	GRIN2A_ENST00000396575.2_Missense_Mutation_p.M653I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M496I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M653I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M653I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M653I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	653					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.M653I(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCTTGGATCATGAAGGCAG	0.493000													5	47					0	0	0.001168	0	0
MORC1	27136	broad.mit.edu	37	3	108773659	108773659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:108773659C>T	ENST00000232603.5	-	14	1328	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MORC1_ENST00000483760.1_Missense_Mutation_p.E416K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	416					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGAGAAATTCCTGTTTATTA	0.388000													16	81					0	0	0.004007	0	0
LRRC2	79442	broad.mit.edu	37	3	46586695	46586695	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:46586695G>A	ENST00000395905.3	-	3	566	c.174C>T	c.(172-174)atC>atT	p.I58I	LRRC2_ENST00000496388.1_5'UTR|LRRC2_ENST00000296144.3_Silent_p.I58I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	58								p.R54fs*11(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CAGCCTGGGGGATGCCCTTCC	0.532000													22	85					0	0	0.001882	0	0
FANCE	2178	broad.mit.edu	37	6	35423926	35423926	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:35423926C>T	ENST00000229769.2	+	2	836	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	217	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGAGGGTCCCCAAAAGATTAC	0.537000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	46					0	0	0.000978	0	0
C1orf94	84970	broad.mit.edu	37	1	34663168	34663168	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:34663168G>A	ENST00000488417.1	+	2	783	c.663G>A	c.(661-663)ggG>ggA	p.G221G	C1orf94_ENST00000373374.3_Silent_p.G31G	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	31							protein binding			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)				GCAGCAAGGGGACAGAGGACA	0.567000													19	51					0	0	0.007413	0	0
OR4K1	79544	broad.mit.edu	37	14	20404268	20404268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:20404268C>T	ENST00000285600.4	+	1	502	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTGTCTATTTCCTGGGCGGTG	0.453000													12	75					0	0	0.000978	0	0
EIF1B	10289	broad.mit.edu	37	3	40352421	40352421	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:40352421C>T	ENST00000232905.3	+	2	327	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	23					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ACGACTTACTCCCGGCAGGGA	0.383000													5	39					0	0	0.000602	0	0
CELSR3	1951	broad.mit.edu	37	3	48692803	48692803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:48692803G>A	ENST00000544264.1	-	5	5046	c.4766C>T	c.(4765-4767)cCc>cTc	p.P1589L	CELSR3_ENST00000164024.4_Missense_Mutation_p.P1589L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1589	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAACTGTGGGGCTGACCAC	0.572000													9	52					0	0	0.001368	0	0
WDR11	55717	broad.mit.edu	37	10	122630798	122630798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:122630798C>T	ENST00000263461.6	+	10	1657	c.1411C>T	c.(1411-1413)Cgt>Tgt	p.R471C		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	471						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTTTGCTATTCGTATGTGTCC	0.473000													11	62					0	0	0.001855	0	0
PDZD3	79849	broad.mit.edu	37	11	119058144	119058144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:119058144G>A	ENST00000531114.1	+	3	1243	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	PDZD3_ENST00000355547.5_Missense_Mutation_p.G166S|PDZD3_ENST00000525131.1_Missense_Mutation_p.G153S|PDZD3_ENST00000322712.4_Missense_Mutation_p.G166S|PDZD3_ENST00000392817.2_Missense_Mutation_p.G232S			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	232	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		AGATGAGGGTGGTTTTGGCTT	0.632000													9	22					0	0	0.000978	0	0
WDR64	128025	broad.mit.edu	37	1	241912906	241912906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:241912906G>A	ENST00000366552.2	+	13	1829	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E	WDR64_ENST00000437684.2_Missense_Mutation_p.G541E	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	541										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)			TTGCCGGAGGGGAAAGACTGG	0.522000													31	82					0	0	0.001512	0	0
AC015849.16	0	broad.mit.edu	37	17	34234315	34234315	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:34234315C>T	ENST00000587132.1	-	0	3712																											TCTCCTGGGTCTGAGAAAATT	0.537000													3	8					0	0	0.004672	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016259	38016259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:38016259G>A	ENST00000261439.4	+	3	902	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	TBC1D1_ENST00000508802.1_Missense_Mutation_p.V183M	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	183						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCGCGTGACGGTGGCGCACAA	0.667000													22	118					0	0	0.002299	0	0
PRDM4	11108	broad.mit.edu	37	12	108133244	108133244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:108133244C>T	ENST00000228437.5	-	11	2468	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	670					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATTCTTCTCCCCAGTGTGGAT	0.493000													9	53					0	0	0.004482	0	0
FMOD	2331	broad.mit.edu	37	1	203317363	203317363	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:203317363G>A	ENST00000354955.4	-	2	499	c.36C>T	c.(34-36)ctC>ctT	p.L12L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	12					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGAGGGAGAAGAGCCCTGCCA	0.572000													7	54					0	0	0.004482	0	0
PRKCB	5579	broad.mit.edu	37	16	24196802	24196802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:24196802G>A	ENST00000303531.7	+	15	1788	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	PRKCB_ENST00000321728.7_Missense_Mutation_p.E546K	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	546	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGGGGAGGATGAAGATGAACT	0.537000													17	63					0	0	0.004990	0	0
FAM46C	54855	broad.mit.edu	37	1	118166458	118166458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:118166458G>A	ENST00000369448.3	+	2	1215	c.968G>A	c.(967-969)gGg>gAg	p.G323E		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	323										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TGTCTCATGGGGCATGAACGC	0.537000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			7	43					0	0	0.001984	0	0
OR5H14	403273	broad.mit.edu	37	3	97868996	97868996	+	Missense_Mutation	SNP	C	C	T	rs141600035	by1000genomes	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:97868996C>T	ENST00000437310.1	+	1	827	c.767C>T	c.(766-768)gCc>gTc	p.A256V		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGCCCCTCGCCTTCATGTAT	0.413000													9	36					0	0	0.006214	0	0
GPR75	10936	broad.mit.edu	37	2	54081434	54081434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:54081434G>A	ENST00000394705.2	-	2	730	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	154						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGGCCGTGCGATTAGGCTGT	0.562000													18	71					0	0	0.001216	0	0
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:140453155C>T	ENST00000288602.6	-	15	1840	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGACCAAAATCACCTATTTTT	0.378000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				18	71					0	0	0.001882	0	0
ASXL1	171023	broad.mit.edu	37	20	31021578	31021578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:31021578C>T	ENST00000375687.4	+	12	2001	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	ASXL1_ENST00000306058.5_Missense_Mutation_p.S521F	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	526					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAGAGGAAATCCTTTGAGCAG	0.512000			"""F, N, Mis"""		"""MDS, CMML"""								26	172					0	0	0.004656	0	0
CHRND	1144	broad.mit.edu	37	2	233393332	233393332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:233393332C>T	ENST00000258385.3	+	5	507	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	CHRND_ENST00000543200.1_Missense_Mutation_p.P144S|CHRND_ENST00000536614.1_Missense_Mutation_p.P159S|CHRND_ENST00000457943.2_Silent_p.S68S	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	159					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CACCTATTTCCCCTTCGACTG	0.582000													17	71					0	0	0.004990	0	0
TLN1	7094	broad.mit.edu	37	9	35699385	35699385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:35699385G>A	ENST00000314888.9	-	51	7195	c.6842C>T	c.(6841-6843)aCt>aTt	p.T2281I	TLN1_ENST00000540444.1_Missense_Mutation_p.T2169I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2281					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATGAGCTCAGTGACGGAACC	0.567000													16	44					0	0	0.001523	0	0
SH3BP5	9467	broad.mit.edu	37	3	15300546	15300546	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:15300546C>T	ENST00000383791.3	-	7	901	c.681G>A	c.(679-681)aaG>aaA	p.K227K	SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5_ENST00000253688.5_Silent_p.K70K|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000426925.1_Silent_p.K70K|SH3BP5_ENST00000408919.3_Silent_p.K70K	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	227					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CATCCACAGTCTTTTTCAGTT	0.488000													5	26					0	0	0.001168	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752589	156752589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:156752589C>T	ENST00000347377.6	+	17	2356	c.1925C>T	c.(1924-1926)tCc>tTc	p.S642F	CYFIP2_ENST00000435847.2_Missense_Mutation_p.S341F|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S642F|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S667F|CYFIP2_ENST00000521420.1_Missense_Mutation_p.S616F|CYFIP2_ENST00000541131.1_Missense_Mutation_p.S567F|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S446F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	667					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCGAGATGTCCATGCCCTGG	0.537000													54	337					0	0	0.003610	0	0
EPHB2	2048	broad.mit.edu	37	1	23235527	23235527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:23235527C>T	ENST00000400191.3	+	13	2383	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S	EPHB2_ENST00000374627.1_Missense_Mutation_p.P784S|EPHB2_ENST00000374632.3_Missense_Mutation_p.P790S|EPHB2_ENST00000374630.3_Missense_Mutation_p.P789S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	789	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGGAAAGATCCCCATCCGCTG	0.587000													5	24					0	0	0.001168	0	0
PROL1	58503	broad.mit.edu	37	4	71275517	71275517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:71275517C>T	ENST00000399575.2	+	3	646	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	158	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CACAAATCCCCCCACCACTGC	0.478000													8	60					0	0	0.003080	0	0
TSSK6	83983	broad.mit.edu	37	19	19625778	19625778	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19625778G>A	ENST00000360913.3	-	1	1060	c.459C>T	c.(457-459)acC>acT	p.T153T	TSSK6_ENST00000585580.3_Silent_p.T153T			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	153	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AGCCGAAGTCGGTGAGCTTGA	0.682000													12	33					0	0	0.001368	0	0
TMEM171	134285	broad.mit.edu	37	5	72419678	72419678	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:72419678T>C	ENST00000454765.2	+	2	951	c.478T>C	c.(478-480)Ttc>Ctc	p.F160L	TMEM171_ENST00000287773.5_Missense_Mutation_p.F160L			Q8WVE6	TM171_HUMAN	transmembrane protein 171	160						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GATGTGTGGGTTCCTTTCTCT	0.557000													20	84					0	0	0.001523	0	0
WDR49	151790	broad.mit.edu	37	3	167218007	167218007	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:167218007T>C	ENST00000308378.3	-	14	2214	c.1909A>G	c.(1909-1911)Aaa>Gaa	p.K637E	WDR49_ENST00000453925.2_Missense_Mutation_p.K602E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.K462E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	637										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAAAGTATTTCTCAGGGTCT	0.433000													50	205					0	0	0.003610	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478429	42478429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:42478429G>A	ENST00000434000.1	-	9	1064	c.782C>T	c.(781-783)tCt>tTt	p.S261F	GPATCH8_ENST00000591680.1_Missense_Mutation_p.S339F			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	339						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCCTTGGTCAGAACTCTTCTC	0.478000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	133					0	0	0.004289	0	0
DAW1	164781	broad.mit.edu	37	2	228750135	228750135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:228750135C>T	ENST00000373666.2	+	2	745	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S	DAW1_ENST00000545118.1_Missense_Mutation_p.P22S|DAW1_ENST00000309931.2_Missense_Mutation_p.P37S					dynein assembly factor with WDR repeat domains 1																		TGATCTTGGTCCCAGGTAAGT	0.348000													11	50					0	0	0.004007	0	0
UNC93A	54346	broad.mit.edu	37	6	167717444	167717444	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:167717444C>T	ENST00000230256.3	+	5	838	c.663C>T	c.(661-663)ttC>ttT	p.F221F	UNC93A_ENST00000366829.2_Silent_p.F179F	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	221						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAGCTGCGTTCCTCCAACCCA	0.507000													13	59					0	0	0.004990	0	0
RPL10	6134	broad.mit.edu	37	X	153628213	153628213	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:153628213T>C	ENST00000424325.2	+	5	448	c.260T>C	c.(259-261)aTc>aCc	p.I87T	RPL10_ENST00000369817.2_Missense_Mutation_p.I87T|RPL10_ENST00000406022.2_Missense_Mutation_p.I36T	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTTCCATATCCGGGTGCGG	0.522000													18	23					0	0	0.006122	0	0
INTS3	65123	broad.mit.edu	37	1	153732018	153732018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:153732018C>T	ENST00000456435.1	+	11	1734	c.548C>T	c.(547-549)tCc>tTc	p.S183F	INTS3_ENST00000435409.2_Missense_Mutation_p.S389F|INTS3_ENST00000318967.2_Missense_Mutation_p.S389F|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Missense_Mutation_p.S183F			Q68E01	INT3_HUMAN	integrator complex subunit 3	390					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCGCTGCCTCCAATGCCAAG	0.493000													23	134					0	0	0.002299	0	0
LAS1L	81887	broad.mit.edu	37	X	64753590	64753590	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:64753590C>G	ENST00000374811.3	-	2	302	c.262G>C	c.(262-264)Gtg>Ctg	p.V88L	LAS1L_ENST00000374807.5_Missense_Mutation_p.V88L|LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000312391.8_Missense_Mutation_p.V88L	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	88						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTAGAAGCCACTGCCAGAGGG	0.522000													26	28					0	0	0.004656	0	0
IL15RA	3601	broad.mit.edu	37	10	6002399	6002399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:6002399G>A	ENST00000525219.2	-	4	700	c.406C>T	c.(406-408)Cac>Tac	p.H136Y	IL15RA_ENST00000397250.2_Missense_Mutation_p.H74Y|IL15RA_ENST00000528354.1_Missense_Mutation_p.H139Y|IL15RA_ENST00000397255.3_Missense_Mutation_p.H172Y|IL15RA_ENST00000379971.1_Missense_Mutation_p.H74Y|IL15RA_ENST00000397251.3_Missense_Mutation_p.H107Y|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000530685.1_Missense_Mutation_p.H139Y|IL15RA_ENST00000397248.2_Missense_Mutation_p.H136Y|IL15RA_ENST00000379977.3_Missense_Mutation_p.H172Y	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	172					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GGGGTGCCGTGGGAGGACTCA	0.587000													19	94					0	0	0.001523	0	0
CDK18	5129	broad.mit.edu	37	1	205492424	205492424	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:205492424G>A	ENST00000360066.2	+	2	430	c.130_splice	c.e2+1	p.E43_splice	CDK18_ENST00000429964.2_Splice_Site_p.E43_splice|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Splice_Site_p.E43_splice	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	41							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGCGGAATGAGAGTGAGGGGT	0.622000													9	38					0	0	0.006214	0	0
SKIV2L	6499	broad.mit.edu	37	6	31935791	31935791	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:31935791C>T	ENST00000375394.2	+	23	2903	c.2790C>T	c.(2788-2790)acC>acT	p.T930T	SKIV2L_ENST00000544581.1_Silent_p.T737T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	930						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCATCACCACCAAGGTGCTCC	0.567000													33	154					0	0	0.004878	0	0
DSCAM	1826	broad.mit.edu	37	21	41424008	41424008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:41424008C>T	ENST00000400454.1	-	30	5539	c.5062G>A	c.(5062-5064)Gat>Aat	p.D1688N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1688					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAGTCAGCATCCGTCAACAGA	0.537000													16	58					0	0	0.003163	0	0
CTSA	5476	broad.mit.edu	37	20	44523489	44523489	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:44523489G>A	ENST00000372484.3	+	10	1233	c.951G>A	c.(949-951)caG>caA	p.Q317Q	CTSA_ENST00000372459.2_Silent_p.Q299Q|CTSA_ENST00000354880.5_Silent_p.Q300Q|CTSA_ENST00000191018.5_Silent_p.Q299Q	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	299					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTGTGGTCCAGGATTTGGGCA	0.627000													28	100					0	0	0.007291	0	0
COL18A1	80781	broad.mit.edu	37	21	46900753	46900753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:46900753C>T	ENST00000359759.4	+	12	2858	c.2837C>T	c.(2836-2838)cCc>cTc	p.P946L	COL18A1_ENST00000400337.2_Missense_Mutation_p.P531L|COL18A1_ENST00000355480.5_Missense_Mutation_p.P711L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	946	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGGGTCCCCCCGGGTTTCCT	0.711000													5	16					0	0	0.001168	0	0
POTEA	340441	broad.mit.edu	37	8	43157198	43157198	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:43157198C>T	ENST00000522175.2	+	0	697							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.Q260E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTATTTTCTCAAGATGTATT	0.318000													18	85					0	0	0.007413	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424800	6424800	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:6424800C>T	ENST00000449001.2	+	4	938	c.444C>T	c.(442-444)ctC>ctT	p.L148L	PLEKHG6_ENST00000011684.7_Silent_p.L180L|PLEKHG6_ENST00000536531.1_Silent_p.L180L|PLEKHG6_ENST00000396988.3_Silent_p.L180L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	180					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGAGAAAGCTCAAGATCATGA	0.632000													12	18					0	0	0.001368	0	0
MARS	4141	broad.mit.edu	37	12	57884380	57884380	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:57884380G>A	ENST00000262027.5	+	7	857	c.723G>A	c.(721-723)gaG>gaA	p.E241E	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.E7E	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	241					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGCTTGGGAGAAGGGCCTAG	0.527000													26	116					0	0	0.001786	0	0
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:94344033G>A	ENST00000282020.4	+	10	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	487					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.E487Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTTTAACTACGAAATTTACGT	0.418000													9	44					0	0	0.004482	0	0
TENM1	10178	broad.mit.edu	37	X	123785874	123785874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:123785874G>A	ENST00000422452.2	-	8	1532	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TENM1_ENST00000371130.3_Missense_Mutation_p.S490L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCCTGAAGCGAAGTTAAGAT	0.428000													18	34					0	0	0.001216	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102522092	102522092	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:102522092T>A	ENST00000321521.9	+	27	3814	c.3241T>A	c.(3241-3243)Tat>Aat	p.Y1081N	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.Y1081N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y1081N|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1081					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTACAGGATTATGCTCGTAC	0.502000													10	65					0	0	0.006214	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072523	17072523	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:17072523C>T	ENST00000359963.3	-	1	1177	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	306					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTTGTCCGCCAGTGTGAGGG	0.527000													41	245					0	0	0.003610	0	0
PPAP2C	8612	broad.mit.edu	37	19	291298	291298	+	Silent	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:291298C>G	ENST00000269812.3	-	1	88	c.39G>C	c.(37-39)ctG>ctC	p.L13L	PPAP2C_ENST00000434325.2_Intron	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	13					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		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)		CCAGTAAGCACAGCACGTCGA	0.736000													4	63					0	0	0.000602	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108822	90108822	+	RNA	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:90108822T>A	ENST00000390271.2	+	0	113																											AGTCTCCAGCTTTCCTCTCTG	0.468000													10	32					0	0	0.006214	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797570	42797570	+	Missense_Mutation	SNP	C	C	T	rs147851446		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:42797570C>T	ENST00000314073.5	+	6	1675	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.P500L					GLTSCR1-like																		GGACAGATGCCCTTGCAGCAG	0.552000													14	79					0	0	0.002450	0	0
HECTD4	283450	broad.mit.edu	37	12	112608926	112608926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:112608926G>A	ENST00000550722.1	-	68	11884	c.11489C>T	c.(11488-11490)gCc>gTc	p.A3830V	HECTD4_ENST00000430131.2_Missense_Mutation_p.A3554V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A3804V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGACCTTTGGCCTCCTTCAG	0.637000													4	20					0	0	0.000248	0	0
GABRB3	2562	broad.mit.edu	37	15	26825552	26825552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:26825552G>A	ENST00000541819.2	-	7	866	c.764C>T	c.(763-765)gCt>gTt	p.A255V	GABRB3_ENST00000400188.3_Missense_Mutation_p.A128V|GABRB3_ENST00000299267.4_Missense_Mutation_p.A199V|GABRB3_ENST00000545868.1_Missense_Mutation_p.A114V|GABRB3_ENST00000311550.5_Missense_Mutation_p.A199V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	199					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCGGTAACAGCCTTGTCCCC	0.532000													35	49					0	0	0.003755	0	0
NCDN	23154	broad.mit.edu	37	1	36030855	36030855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:36030855G>A	ENST00000373243.2	+	7	2164	c.1781G>A	c.(1780-1782)gGg>gAg	p.G594E	NCDN_ENST00000373253.3_Missense_Mutation_p.G577E|NCDN_ENST00000356090.4_Missense_Mutation_p.G594E	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	594					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCATCCCGAGGGTTCTTCGCA	0.617000											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	104					0	0	0.007291	0	0
LDLR	3949	broad.mit.edu	37	19	11216163	11216163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:11216163G>A	ENST00000558518.1	+	4	768	c.581G>A	c.(580-582)aGt>aAt	p.S194N	LDLR_ENST00000535915.1_Missense_Mutation_p.S153N|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000558013.1_Missense_Mutation_p.S194N|LDLR_ENST00000557933.1_Missense_Mutation_p.S194N	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	194					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAAGGGGACAGTAGCCCCTGC	0.622000													46	169					0	0	0.003214	0	0
HINFP	25988	broad.mit.edu	37	11	119001634	119001634	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:119001634C>T	ENST00000350777.2	+	3	444	c.381C>T	c.(379-381)gaC>gaT	p.D127D	HINFP_ENST00000527410.1_Silent_p.D127D|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	127					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATATCCCTGACCACTTCCTGT	0.577000													12	55					0	0	0.000978	0	0
LINC00471	151477	broad.mit.edu	37	2	232373842	232373842	+	RNA	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:232373842C>A	ENST00000313064.2	-	0	576					NR_024079.1																						TCATCGGGAACCCCCTACAGA	0.507000													36	137					1.06647e-15	2.24795e-15	0.003755	1	0
MUC16	94025	broad.mit.edu	37	19	9061891	9061891	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9061891A>C	ENST00000397910.4	-	3	25758	c.25555T>G	c.(25555-25557)Ttt>Gtt	p.F8519V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8521	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CCTGACCAAAAGGTTGTTGTT	0.498000													16	88					0	0	0.006122	0	0
C2orf16	84226	broad.mit.edu	37	2	27800226	27800226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:27800226G>A	ENST00000408964.2	+	1	838	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	263										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGTGGAATATGAAGGGATTAC	0.453000													22	92					0	0	0.001523	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870982	140870982	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140870982G>A	ENST00000252087.1	+	1	2175	c.2175G>A	c.(2173-2175)ggG>ggA	p.G725G	PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		725					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGACGGGGGTGGAGGGC	0.597000													22	81					0	0	0.001882	0	0
ARID2	196528	broad.mit.edu	37	12	46244298	46244298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:46244298C>T	ENST00000334344.6	+	15	2564	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q408*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q649*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	798	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCTGTCCCACAGAGTCATAT	0.463000			"""N, S, F"""		hepatocellular carcinoma								7	37					0	0	0.001984	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396571	57396571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:57396571C>T	ENST00000300101.2	-	2	2216	c.2131G>A	c.(2131-2133)Gac>Aac	p.D711N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGTCAACTGTCCGGGTTCTTA	0.547000													16	52					0	0	0.004990	0	0
LIG1	3978	broad.mit.edu	37	19	48639036	48639036	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:48639036T>A	ENST00000263274.7	-	16	1843	c.1423_splice	c.e16-1	p.E475_splice	LIG1_ENST00000427526.2_Splice_Site_p.E444_splice|LIG1_ENST00000536218.1_Splice_Site_p.E407_splice	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	475					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGTGGGAATTCTAAGAAAAG	0.562000								Nucleotide excision repair (NER)					21	80					0	0	0.002299	0	0
CNGA1	1259	broad.mit.edu	37	4	47939783	47939783	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:47939783T>C	ENST00000402813.3	-	10	1077	c.935A>G	c.(934-936)aAc>aGc	p.N312S	CNGA1_ENST00000544810.1_Missense_Mutation_p.N243S|CNGA1_ENST00000514170.1_Missense_Mutation_p.N243S|CNGA1_ENST00000420489.2_Missense_Mutation_p.N243S|CNGA1_ENST00000358519.4_Missense_Mutation_p.N243S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	243					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AAATTGCAAGTTGGATTTATA	0.308000													18	112					0	0	0.001882	0	0
SP1	6667	broad.mit.edu	37	12	53800524	53800524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:53800524G>A	ENST00000426431.2	+	4	1870	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N	SP1_ENST00000327443.4_Missense_Mutation_p.D611N	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	611	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTACTGTAAAGACAGTGAAGG	0.453000													9	24					0	0	0.006214	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29957588	29957588	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:29957588C>T	ENST00000216121.7	-	6	740	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	162								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GCTGGTTTCTCCTGGACAGCA	0.567000													33	72					0	0	0.003271	0	0
COL11A2	1302	broad.mit.edu	37	6	33144519	33144519	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33144519G>A	ENST00000341947.2	-	26	2321	c.2094C>T	c.(2092-2094)ccC>ccT	p.P698P	COL11A2_ENST00000361917.1_Silent_p.P591P|COL11A2_ENST00000395197.1_Silent_p.P638P|COL11A2_ENST00000374713.1_Silent_p.P651P|COL11A2_ENST00000357486.1_Silent_p.P677P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Silent_p.P672P|COL11A2_ENST00000374712.1_Silent_p.P617P|COL11A2_ENST00000374708.4_Silent_p.P612P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	698	Triple-helical region.				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						TGGTTCCAGGGGGACCTTCCT	0.547000													5	39					0	0	0.001984	0	0
IL37	27178	broad.mit.edu	37	2	113675280	113675280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:113675280G>A	ENST00000263326.3	+	4	376	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	IL37_ENST00000353225.3_Missense_Mutation_p.G72R|IL37_ENST00000349806.3_Missense_Mutation_p.G51R|IL37_ENST00000311328.2_Missense_Mutation_p.G86R|IL37_ENST00000352179.3_Missense_Mutation_p.G91R	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	112					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GATTCTCCTGGGGGTCTCTAA	0.478000													36	125					0	0	0.003271	0	0
NBR1	4077	broad.mit.edu	37	17	41346489	41346489	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:41346489C>T	ENST00000422280.1	+	13	2106	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	NBR1_ENST00000389312.4_Silent_p.I549I|NBR1_ENST00000341165.6_Silent_p.I549I|NBR1_ENST00000589872.1_Silent_p.I549I|NBR1_ENST00000542611.1_Silent_p.I528I|NBR1_ENST00000590996.1_Silent_p.I549I	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	549	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGCTCTACATCCCATCTGTGG	0.522000													47	118					0	0	0.003610	0	0
CCBL1	883	broad.mit.edu	37	9	131600646	131600646	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:131600646C>T	ENST00000436267.2	-	6	633	c.483_splice	c.e6-1	p.G162_splice	CCBL1_ENST00000302586.3_Splice_Site_p.G68_splice|CCBL1_ENST00000320665.6_Intron|CCBL1_ENST00000483599.1_Intron			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	68					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GGTGGGTAACCCTGCCAGGAC	0.592000													7	21					0	0	0.003080	0	0
NLRP1	22861	broad.mit.edu	37	17	5461997	5461997	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:5461997G>A	ENST00000345221.3	-	4	2573	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	NLRP1_ENST00000577119.1_Silent_p.F673F|NLRP1_ENST00000269280.4_Silent_p.F673F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.F673F|NLRP1_ENST00000572272.1_Silent_p.F673F|NLRP1_ENST00000262467.5_Silent_p.F673F	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	673					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCCCAATAGGAAACGTGTGG	0.498000													19	90					0	0	0.001216	0	0
TECPR2	9895	broad.mit.edu	37	14	102900623	102900623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:102900623C>T	ENST00000359520.7	+	9	1695	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	TECPR2_ENST00000558678.1_Missense_Mutation_p.S490F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	490							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACACCCTGCTCCGAATTTCCT	0.488000													9	54					0	0	0.006214	0	0
NUP210L	91181	broad.mit.edu	37	1	154018830	154018830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154018830C>T	ENST00000368559.3	-	26	3570	c.3499G>A	c.(3499-3501)Gaa>Aaa	p.E1167K	NUP210L_ENST00000368553.1_Missense_Mutation_p.E100K|NUP210L_ENST00000271854.3_Missense_Mutation_p.E1167K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1167						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGAACAACTTCAATCTGTACT	0.478000													13	33					0	0	0.001855	0	0
CT47B1	643311	broad.mit.edu	37	X	120008962	120008962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:120008962C>T	ENST00000371311.3	-	1	817	c.563G>A	c.(562-564)gGc>gAc	p.G188D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	188										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CTGGATCAGGCCGAGGCCCTC	0.716000													18	17					0	0	0.006122	0	0
ZNF831	128611	broad.mit.edu	37	20	57768463	57768463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:57768463G>A	ENST00000371030.2	+	1	2389	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	797						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGATGTTCAGGAGACCTGCCT	0.637000													6	24					0	0	0.001984	0	0
FAM47B	170062	broad.mit.edu	37	X	34961863	34961863	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:34961863C>T	ENST00000329357.5	+	1	951	c.915C>T	c.(913-915)tcC>tcT	p.S305S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	305	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGAGTGTCCCATCTCCGCC	0.632000													10	35					0	0	0.000673	0	0
TMCO3	55002	broad.mit.edu	37	13	114202694	114202694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:114202694G>A	ENST00000434316.2	+	12	2206	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	616						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GTCTCTGCGGGGCTTGCCCAG	0.627000													15	48					0	0	0.003163	0	0
SDSL	113675	broad.mit.edu	37	12	113866236	113866236	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:113866236G>A	ENST00000403593.4	+	3	448	c.186G>A	c.(184-186)aaG>aaA	p.K62K	SDSL_ENST00000345635.4_Silent_p.K62K			Q96GA7	SDSL_HUMAN	serine dehydratase-like	62					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TGGCCAAGAAGGGATGCAGAC	0.552000													5	36					0	0	0.001168	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231867	142231867	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:142231867C>T	ENST00000390364.3	-	0	117																											ATCCCTGTGTCCTGTAATAGA	0.527000													26	52					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179612512	179612512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:179612512G>A	ENST00000360870.5	-	46	14837	c.14615C>T	c.(14614-14616)tCc>tTc	p.S4872F	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	995	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTAAAGTGGAGAAAGAAGC	0.368000													10	46					0	0	0.000978	0	0
ARRDC1	92714	broad.mit.edu	37	9	140507444	140507444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:140507444C>T	ENST00000371421.4	+	2	279	c.215C>T	c.(214-216)tCg>tTg	p.S72L	ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	72										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AGTTCCCTGTCGCTGGCAGAC	0.607000													5	15					0	0	0.000602	0	0
MN1	4330	broad.mit.edu	37	22	28193708	28193708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:28193708C>T	ENST00000302326.4	-	1	3778	c.2824G>A	c.(2824-2826)Gga>Aga	p.G942R		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	942							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGACCCCGTCCCCGGCCGCCG	0.692000			T	ETV6	"""AML, meningioma"""								4	7					0	0	0.000248	0	0
MYH1	4619	broad.mit.edu	37	17	10406151	10406151	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10406151C>T	ENST00000226207.5	-	24	3109	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1005						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGGTGGGCCTCCTGGAGAG	0.488000													14	127					0	0	0.003163	0	0
FAM129A	116496	broad.mit.edu	37	1	184764972	184764972	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:184764972G>A	ENST00000367511.3	-	14	2119	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	642					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTGGCCCAGGGAGAGAAAGGC	0.552000													16	80					0	0	0.006122	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045035	16045035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:16045035C>T	ENST00000326742.7	-	1	185	c.184G>A	c.(184-186)Gga>Aga	p.G62R	CYP4F11_ENST00000248041.7_Missense_Mutation_p.G62R|CYP4F11_ENST00000402119.3_Missense_Mutation_p.G62R			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	62					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCCTGGTGTCCCCAAAACCAG	0.607000													7	34					0	0	0.003080	0	0
THSD7B	80731	broad.mit.edu	37	2	138421083	138421083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:138421083G>A	ENST00000409968.1	+	26	4767	c.4589G>A	c.(4588-4590)aGa>aAa	p.R1530K	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1533K|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1502K					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGGAAAAACAGACCTGTGAAT	0.353000													3	14					0	0	0.004672	0	0
EVPL	2125	broad.mit.edu	37	17	74004837	74004837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:74004837C>T	ENST00000301607.3	-	22	4702	c.4449G>A	c.(4447-4449)tgG>tgA	p.W1483*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.W1505*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1483	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCAGGTCCCACCGCAGGG	0.587000													29	121					0	0	0.007291	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202091	72202091	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:72202091G>A	ENST00000555818.1	+	20	5517	c.5169G>A	c.(5167-5169)caG>caA	p.Q1723Q	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Silent_p.Q1702Q|SIPA1L1_ENST00000381232.3_Silent_p.Q1702Q|SIPA1L1_ENST00000537413.1_Silent_p.Q1177Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1723					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCTGGCCCAGATGAAGCCTT	0.542000													25	68					0	0	0.002780	0	0
USH2A	7399	broad.mit.edu	37	1	216348630	216348630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:216348630G>A	ENST00000366943.2	-	21	4977	c.4591C>T	c.(4591-4593)Ccc>Tcc	p.P1531S	USH2A_ENST00000366942.3_Missense_Mutation_p.P1531S|USH2A_ENST00000307340.3_Missense_Mutation_p.P1531S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1531	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGAGCTGGGAAATTTACAA	0.403000										HNSCC(13;0.011)			5	27					0	0	0.000602	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720717	50720717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:50720717C>T	ENST00000449103.1	-	19	3153	c.3013G>A	c.(3013-3015)Ggt>Agt	p.G1005S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.G1005S			O15031	PLXB2_HUMAN	plexin B2	1005	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGCCCTGACCCGTGACGTTG	0.701000													16	67					0	0	0.001882	0	0
AZU1	566	broad.mit.edu	37	19	831868	831868	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:831868G>A	ENST00000233997.2	+	5	768	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	249					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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;0.000172)|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)		CGGGACCGGGGCCAGCCTAGG	0.716000													14	41					0	0	0.004007	0	0
TNXB	7148	broad.mit.edu	37	6	32065631	32065631	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:32065631C>T	ENST00000375244.3	-	2	546	c.345G>A	c.(343-345)aaG>aaA	p.K115K	TNXB_ENST00000479795.1_Silent_p.K115K|TNXB_ENST00000375247.2_Silent_p.K115K			P22105	TENX_HUMAN	tenascin XB	115					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTTGAGCCCCTTCACCAACT	0.627000													59	186					0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563603	24563603	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:24563603C>A	ENST00000535378.1	-	17	3190	c.2548G>T	c.(2548-2550)Gcc>Tcc	p.A850S	KIAA0319_ENST00000537886.1_Missense_Mutation_p.A859S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A859S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A814S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A859S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	859					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCGAGTGGGCCCGAATCTTC	0.562000													5	37					5.9392e-07	1.24482e-06	0.001168	1	0
ERBB2	2064	broad.mit.edu	37	17	37884092	37884092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:37884092G>A	ENST00000406381.2	+	29	3983	c.3473G>A	c.(3472-3474)gGg>gAg	p.G1158E	ERBB2_ENST00000584601.1_Missense_Mutation_p.G1158E|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000541774.1_Missense_Mutation_p.G1173E|ERBB2_ENST00000540147.1_Missense_Mutation_p.G1158E|ERBB2_ENST00000445658.2_Missense_Mutation_p.G912E|ERBB2_ENST00000269571.5_Missense_Mutation_p.G1188E	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1188					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TTTGCCTTTGGGGGTGCCGTG	0.627000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			11	54					0	0	0.000978	0	0
CNPY3	10695	broad.mit.edu	37	6	42903379	42903379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:42903379G>T	ENST00000372836.4	+	3	714	c.343G>T	c.(343-345)Gag>Tag	p.E115*	CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	115	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CCTGCACAAGGAGAGGACCGG	0.527000													12	69					1.5842e-08	3.3279e-08	0.001855	1	0
NPIPB3	23117	broad.mit.edu	37	16	21416240	21416240	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:21416240G>A	ENST00000458643.2	-	7	1019	c.468C>T	c.(466-468)ctC>ctT	p.L156L	NPIPB3_ENST00000542817.1_Silent_p.L123L|NPIPB3_ENST00000448012.2_Intron					nuclear pore complex interacting protein family, member B3																		GAGGTGTCTTGAGATTATCAT	0.557000													9	95					0	0	0.004482	0	0
FAM129A	116496	broad.mit.edu	37	1	184764971	184764971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:184764971G>A	ENST00000367511.3	-	14	2120	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	643					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTTGGCCCAGGGAGAGAAAGG	0.552000													16	80					0	0	0.006122	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703027	27703027	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:27703027C>T	ENST00000438700.3	-	1	270	c.153G>A	c.(151-153)ccG>ccA	p.P51P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	51					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGGGGATTTCGGGGGTGCCA	0.682000													22	88					0	0	0.002780	0	0
PTPRD	5789	broad.mit.edu	37	9	8518175	8518175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:8518175C>T	ENST00000381196.4	-	18	1759	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	PTPRD_ENST00000397606.3_Missense_Mutation_p.E396K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E403K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E396K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E406K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E393K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E403K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E393K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E406K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E406K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E406K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	406	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCACAGGTTCGCTGGGAGGC	0.542000										TSP Lung(15;0.13)			31	78					0	0	0.001786	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226577	23226577	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:23226577C>T	ENST00000300061.2	+	13	1880	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	579					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AACAGGCTCCCCCATGTCCAG	0.557000													19	80					0	0	0.007413	0	0
ESRP1	54845	broad.mit.edu	37	8	95680314	95680314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:95680314G>A	ENST00000433389.2	+	10	1259	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ESRP1_ENST00000423620.2_Missense_Mutation_p.E357K|ESRP1_ENST00000454170.2_Missense_Mutation_p.E357K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E357K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	357	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGGGGAAAGGAAGGCATCCT	0.527000													84	427					0	0	0.003610	0	0
FAM86A	196483	broad.mit.edu	37	16	5140543	5140543	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:5140543G>A	ENST00000427587.4	-	5	434	c.366C>T	c.(364-366)ctC>ctT	p.L122L	FAM86A_ENST00000587133.1_Silent_p.L61L|FAM86A_ENST00000458008.4_Silent_p.L88L	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	122										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TGCTCTCGGAGAGTGTGACCG	0.602000													15	61					0	0	0.004007	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113461	123113461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:123113461C>T	ENST00000264501.4	+	11	1352	c.979C>T	c.(979-981)Cca>Tca	p.P327S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P327S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P327S			Q2LD37	K1109_HUMAN	KIAA1109	327					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGACTTGCCTCCATGTTGGGG	0.373000													7	43					0	0	0.004482	0	0
MAP3K4	4216	broad.mit.edu	37	6	161505568	161505568	+	Missense_Mutation	SNP	G	G	C	rs142735217		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:161505568G>C	ENST00000392142.4	+	7	2439	c.2291G>C	c.(2290-2292)aGt>aCt	p.S764T	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S764T|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S764T|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S764T	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	764					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTACAGGAAGTTTTTTAGAA	0.408000													9	73					0	0	0.000978	0	0
PKD1L1	168507	broad.mit.edu	37	7	47814750	47814750	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:47814750C>T	ENST00000289672.2	-	57	8591	c.8541G>A	c.(8539-8541)aaG>aaA	p.K2847K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2847					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCAGAAGTCCTTGATGTCTG	0.448000													51	112					0	0	0.003610	0	0
UCHL1	7345	broad.mit.edu	37	4	41265263	41265263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:41265263C>T	ENST00000284440.4	+	7	625	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	UCHL1_ENST00000503431.1_Missense_Mutation_p.H161Y|UCHL1_ENST00000512788.1_Missense_Mutation_p.H161Y|UCHL1_ENST00000508768.1_Missense_Mutation_p.H145Y	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	161					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity	p.H161Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GGTGAATTTCCATTTTATTCT	0.333000													14	71					0	0	0.002450	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563511	46563511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:46563511C>T	ENST00000458649.2	-	7	2474	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	AMBRA1_ENST00000426438.1_Missense_Mutation_p.E686K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E596K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E686K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E596K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E686K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E686K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	686					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGTGAATCCTCCTCAGAGCTC	0.488000													5	78					0	0	0.001168	0	0
GBP6	163351	broad.mit.edu	37	1	89834181	89834181	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:89834181A>G	ENST00000370456.4	+	2	164	c.71A>G	c.(70-72)aAc>aGc	p.N24S	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	24							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTATTGGTGAACCAGCAAGCT	0.483000													21	95					0	0	0.002299	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858523	42858523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:42858523C>T	ENST00000455697.1	-	7	1598	c.1313G>A	c.(1312-1314)cGa>cAa	p.R438Q	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R438Q|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R438Q|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R438Q|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R438Q	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	438					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CTCACTGGCTCGAATATCCAT	0.418000													10	67					0	0	0.001368	0	0
DNM1	1759	broad.mit.edu	37	9	130985086	130985086	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:130985086G>A	ENST00000341179.7	+	9	1235	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	DNM1_ENST00000393594.3_Silent_p.E381E|DNM1_ENST00000372923.3_Silent_p.E381E|DNM1_ENST00000475805.1_Silent_p.E381E|DNM1_ENST00000486160.1_Silent_p.E381E	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	381					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGTTTGATGAGAAGGAACTCC	0.547000													10	49					0	0	0.000673	0	0
BEND3	57673	broad.mit.edu	37	6	107391441	107391441	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:107391441C>T	ENST00000429433.2	-	5	1603	c.954G>A	c.(952-954)gtG>gtA	p.V318V	BEND3_ENST00000369042.1_Silent_p.V318V	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	318	BEN 1.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CCGTGTCCTTCACCGAGGGGT	0.652000													7	25					0	0	0.001984	0	0
DIS3L2	129563	broad.mit.edu	37	2	233001424	233001424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:233001424C>T	ENST00000360410.4	+	9	1280	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	DIS3L2_ENST00000409307.1_Silent_p.A315A|DIS3L2_ENST00000273009.6_Silent_p.A315A|DIS3L2_ENST00000325385.7_Silent_p.A315A			Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	0							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCAATTTTGCCCTGGGGTAGG	0.448000													21	74					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9067464	9067464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9067464C>T	ENST00000397910.4	-	3	20185	c.19982G>A	c.(19981-19983)gGa>gAa	p.G6661E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6663	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GGTGCTGGTTCCCTTCAGCCC	0.512000													18	73					0	0	0.006122	0	0
TEP1	7011	broad.mit.edu	37	14	20852297	20852297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:20852297C>T	ENST00000262715.5	-	24	3474	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1037Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1145					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.R1145L(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGCGTGGCCGGGCAGGACT	0.652000													13	55					0	0	0.003163	0	0
LRCH4	4034	broad.mit.edu	37	7	100174718	100174718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:100174718G>A	ENST00000310300.6	-	12	1407	c.1355C>T	c.(1354-1356)gCc>gTc	p.A452V	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	452					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGTGCATGGCTTGAGTGGA	0.602000													9	71					0	0	0.000673	0	0
UBBP4	23666	broad.mit.edu	37	17	21731489	21731489	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:21731489C>G	ENST00000578713.1	+	2	568	c.564C>G	c.(562-564)atC>atG	p.I188M	UBBP4_ENST00000584755.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAGAAGGCATCCCCCCCGATC	0.537000													6	29					0	0	0.001168	0	0
FLRT2	23768	broad.mit.edu	37	14	86088276	86088276	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:86088276C>G	ENST00000330753.4	+	2	1185	c.418C>G	c.(418-420)Ctg>Gtg	p.L140V	FLRT2_ENST00000554746.1_Missense_Mutation_p.L140V	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	140					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGAGCTGCACCTGGATGACAA	0.493000													16	64					0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82582446	82582446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:82582446G>A	ENST00000423517.2	-	5	8160	c.7823C>T	c.(7822-7824)tCa>tTa	p.S2608L	PCLO_ENST00000333891.8_Missense_Mutation_p.S2608L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2539					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGGAGGGTGATCCCAAGGG	0.433000													37	202					0	0	0.006999	0	0
TRIP11	9321	broad.mit.edu	37	14	92471846	92471846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:92471846G>A	ENST00000267622.4	-	11	2847	c.2474C>T	c.(2473-2475)tCa>tTa	p.S825L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	825					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTGCAGCTTTGAACTTCTTTC	0.338000			T	PDGFRB	AML								21	53					0	0	0.001523	0	0
SLC46A1	113235	broad.mit.edu	37	17	26726681	26726681	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:26726681C>T	ENST00000440501.1	-	6	1466	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR|SLC46A1_ENST00000321666.5_Silent_p.Q428Q	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	457					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	ATCAGGGGCTCTGGGGAAACT	0.562000													11	38					0	0	0.000978	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606442	31606442	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:31606442G>A	ENST00000170150.3	+	9	864		c.e9-1			NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2							extracellular region	lipid binding										CACCCCTACAGGCTGTTCTCT	0.632000													28	137					0	0	0.007291	0	0
ZNF451	26036	broad.mit.edu	37	6	57012014	57012014	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:57012014C>T	ENST00000370706.4	+	10	1375	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	ZNF451_ENST00000491832.2_Silent_p.T377T|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Silent_p.T377T|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAACCAGCACCCAAAATCATA	0.423000													17	36					0	0	0.004007	0	0
CASR	846	broad.mit.edu	37	3	121980790	121980790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:121980790C>T	ENST00000498619.1	+	4	1346	c.908C>T	c.(907-909)tCc>tTc	p.S303F	CASR_ENST00000490131.1_Missense_Mutation_p.S303F|CASR_ENST00000296154.5_Missense_Mutation_p.S303F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	303					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAGCTCCTCCCTGATCGCC	0.597000													11	64					0	0	0.000978	0	0
TMEM63B	55362	broad.mit.edu	37	6	44122487	44122487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:44122487C>T	ENST00000259746.9	+	24	2549	c.2366C>T	c.(2365-2367)cCt>cTt	p.P789L	TMEM63B_ENST00000323267.6_Missense_Mutation_p.P789L			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	789						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GATGGGGCTCCTGGGAGCTCA	0.602000													11	42					0	0	0.001855	0	0
MYOCD	93649	broad.mit.edu	37	17	12666801	12666801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:12666801C>T	ENST00000425538.1	+	14	3001	c.2801C>T	c.(2800-2802)cCc>cTc	p.P934L	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.P886L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	886					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P934L(1)|p.P886L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACTGAATCTCCCTGGGAAACC	0.547000													9	37					0	0	0.001368	0	0
MREG	55686	broad.mit.edu	37	2	216810397	216810397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:216810397G>A	ENST00000263268.6	-	4	702	c.407C>T	c.(406-408)tCt>tTt	p.S136F		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	136						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		TGTGTTTTTAGAATCACTGAT	0.393000													9	44					0	0	0.004482	0	0
LILRB1	10859	broad.mit.edu	37	19	55143678	55143678	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55143678C>T	ENST00000396331.1	+	6	1008	c.651C>T	c.(649-651)ctC>ctT	p.L217L	LILRB1_ENST00000427581.2_Silent_p.L253L|LILRB1_ENST00000396332.4_Silent_p.L217L|LILRB1_ENST00000396315.1_Silent_p.L217L|LILRB1_ENST00000434867.2_Silent_p.L217L|LILRB1_ENST00000396327.3_Silent_p.L217L|LILRB1_ENST00000396317.1_Silent_p.L217L|LILRB1_ENST00000324602.7_Silent_p.L217L|LILRB1_ENST00000448689.1_Silent_p.L217L|LILRB1_ENST00000396321.2_Silent_p.L217L|LILRB1_ENST00000418536.2_Silent_p.L217L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	217	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		TCCTGGAGCTCCTGGTCCTAG	0.587000										HNSCC(37;0.09)			22	90					0	0	0.003954	0	0
C7orf26	79034	broad.mit.edu	37	7	6631409	6631409	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:6631409A>T	ENST00000344417.5	+	2	592	c.325A>T	c.(325-327)Agc>Tgc	p.S109C	C7orf26_ENST00000359073.5_Missense_Mutation_p.S90C|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	109										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGCCGATGACAGCCGGATGAG	0.502000													22	127					0	0	0.001882	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789510	6789510	+	Missense_Mutation	SNP	G	G	A	rs150417998		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:6789510G>A	ENST00000338569.2	-	1	776	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATGGCATACGAAGCACAGTG	0.483000													7	23					0	0	0.001984	0	0
ABCA13	154664	broad.mit.edu	37	7	48431685	48431685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:48431685C>T	ENST00000435803.1	+	38	11846	c.11822C>T	c.(11821-11823)tCc>tTc	p.S3941F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3941	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCTTTGCTTCCATAAAGGCG	0.527000													24	68					0	0	0.004656	0	0
CCDC108	255101	broad.mit.edu	37	2	219874736	219874736	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:219874736G>A	ENST00000341552.5	-	27	4463	c.4380C>T	c.(4378-4380)ctC>ctT	p.L1460L	CCDC108_ENST00000453220.1_Silent_p.L1460L|CCDC108_ENST00000441968.1_Silent_p.L1460L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1460						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTGAGGAAGAGCAGGCGGC	0.527000													17	44					0	0	0.001216	0	0
DSP	1832	broad.mit.edu	37	6	7580796	7580796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:7580796G>A	ENST00000379802.3	+	23	4714	c.4373G>A	c.(4372-4374)cGa>cAa	p.R1458Q	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1458	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACTCAGATGCGAACAGAGGAG	0.463000													8	59					0	0	0.004482	0	0
ABHD12B	145447	broad.mit.edu	37	14	51368616	51368616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:51368616C>T	ENST00000337334.2	+	10	865	c.850C>T	c.(850-852)Cct>Tct	p.P284S	ABHD12B_ENST00000395752.1_Missense_Mutation_p.P177S|ABHD12B_ENST00000353130.1_Missense_Mutation_p.P207S|PYGL_ENST00000532462.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	284							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					AATAATCTTTCCTAATGATGA	0.303000													5	36					0	0	0.001984	0	0
MGAM	8972	broad.mit.edu	37	7	141739966	141739966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:141739966G>A	ENST00000475668.2	+	20	2422	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	MGAM_ENST00000549489.2_Missense_Mutation_p.E790K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	790	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.E790K(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTATGACTACGAGACTGTAAG	0.418000													7	16					0	0	0.004482	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398054	39398054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:39398054C>T	ENST00000392079.3	+	5	726	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	NFKBIB_ENST00000572515.1_Missense_Mutation_p.R242W|NFKBIB_ENST00000313582.5_Missense_Mutation_p.R242W			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	242					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACGTGCGGCCGGAGCCCCCT	0.692000													8	82					0	0	0.006214	0	0
DRD5	1816	broad.mit.edu	37	4	9784482	9784482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:9784482G>A	ENST00000304374.2	+	1	1225	c.829G>A	c.(829-831)Gcc>Acc	p.A277T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	277					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GAGCAGCGCAGCCTGCGCGCC	0.642000													8	30					0	0	0.003080	0	0
HOXB5	3215	broad.mit.edu	37	17	46669790	46669790	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:46669790G>A	ENST00000239151.5	-	2	869	c.591C>T	c.(589-591)gcC>gcT	p.A197A	HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	197						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						ACGCGGTCCGGGCCCTTTTCC	0.627000													13	32					0	0	0.001855	0	0
FUS	2521	broad.mit.edu	37	16	31195273	31195273	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:31195273C>T	ENST00000254108.7	+	4	390	c.285C>T	c.(283-285)tcC>tcT	p.S95S	FUS_ENST00000380244.3_Silent_p.S94S|FUS_ENST00000568685.1_Silent_p.S95S	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	95	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGCAGCAGTCCTCCTACCCTG	0.582000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								24	135					0	0	0.002299	0	0
MICA	100507436	broad.mit.edu	37	6	31378343	31378343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:31378343C>T	ENST00000449934.2	+	2	148	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	32					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TCGTTATAACCTCACGGTGCT	0.502000													4	26					0	0	0.000248	0	0
CHIA	27159	broad.mit.edu	37	1	111860660	111860660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:111860660G>A	ENST00000369740.1	+	8	761	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	CHIA_ENST00000451398.2_Missense_Mutation_p.G59S|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.G59S|CHIA_ENST00000343320.6_Missense_Mutation_p.G220S|CHIA_ENST00000430615.1_Missense_Mutation_p.G112S|CHIA_ENST00000483391.1_Missense_Mutation_p.G59S	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	220					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CTCCTGGGAGGGCTACACTGG	0.532000													9	37					0	0	0.001368	0	0
RUNX2	860	broad.mit.edu	37	6	45480128	45480128	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:45480128G>A	ENST00000371438.1	+	6	1363	c.1005G>A	c.(1003-1005)gtG>gtA	p.V335V	RUNX2_ENST00000371432.3_Silent_p.V321V|RUNX2_ENST00000576263.1_Silent_p.V335V|RUNX2_ENST00000465038.2_Silent_p.V335V|RUNX2_ENST00000371436.6_Silent_p.V335V|RUNX2_ENST00000359524.5_Silent_p.V321V|RUNX2_ENST00000541979.1_Silent_p.V403V|RUNX2_ENST00000352853.5_Silent_p.V403V	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	335	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCACCGATGTGCCTAGGCGCA	0.587000													9	50					0	0	0.004482	0	0
FOXI3	344167	broad.mit.edu	37	2	88751516	88751516	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:88751516G>A	ENST00000398142.3	-	0	615							A8MTJ6	FOXI3_HUMAN	forkhead box I3						epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						CTGGTAGAAGGGGAAGCTATC	0.617000													4	5					0	0	0.000248	0	0
PHB2	11331	broad.mit.edu	37	12	7079698	7079698	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:7079698C>T	ENST00000535923.1	-	1	290	c.9G>A	c.(7-9)caG>caA	p.Q3Q	PHB2_ENST00000440277.1_Silent_p.Q3Q|PHB2_ENST00000399433.2_Silent_p.Q3Q|PHB2_ENST00000546111.1_Silent_p.Q3Q|PHB2_ENST00000544134.1_5'UTR|PHB2_ENST00000542912.1_Silent_p.Q3Q	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	3					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CCTTCAAGTTCTGGGCCATGT	0.706000													10	32					0	0	0.000673	0	0
GPR116	221395	broad.mit.edu	37	6	46851899	46851899	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:46851899G>A	ENST00000283296.7	-	5	726	c.438C>T	c.(436-438)ctC>ctT	p.L146L	GPR116_ENST00000456426.2_Silent_p.L146L|GPR116_ENST00000265417.7_Silent_p.L146L|GPR116_ENST00000362015.4_Silent_p.L146L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	146					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGTGCCCTGGGAGGAAGACGT	0.498000													25	97					0	0	0.003330	0	0
PGC	5225	broad.mit.edu	37	6	41715031	41715031	+	Silent	SNP	C	C	T	rs71941720		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:41715031C>T	ENST00000373025.3	-	1	104	c.42G>A	c.(40-42)ttG>ttA	p.L14L	PGC_ENST00000425343.2_Silent_p.L14L	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	14					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CTGCTGCCTCCAAGAGCTGGA	0.602000													5	43					0	0	0.001168	0	0
LDLR	3949	broad.mit.edu	37	19	11224000	11224000	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:11224000G>A	ENST00000558518.1	+	9	1420	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	LDLR_ENST00000535915.1_Silent_p.K370K|LDLR_ENST00000545707.1_Silent_p.K284K|LDLR_ENST00000455727.2_Silent_p.K243K|LDLR_ENST00000558013.1_Silent_p.K411K|LDLR_ENST00000557933.1_Silent_p.K411K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	411					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AGGTCAGGAAGATGACGCTGG	0.627000													50	221					0	0	0.003610	0	0
RMDN2	151393	broad.mit.edu	37	2	38179116	38179116	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:38179116C>A	ENST00000407257.1	+	2	905	c.758C>A	c.(757-759)cCt>cAt	p.P253H	RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.P253H|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.P253H					regulator of microtubule dynamics 2																		CATCCTCGTCCTGAAAGTTAC	0.393000													13	48					5.50884e-06	1.15332e-05	0.001368	1	0
CELSR3	1951	broad.mit.edu	37	3	48697368	48697368	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:48697368G>A	ENST00000544264.1	-	1	2980	c.2700C>T	c.(2698-2700)aaC>aaT	p.N900N	CELSR3_ENST00000164024.4_Silent_p.N900N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	900	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGGGGCAGGTTGTCCTCCA	0.522000													15	26					0	0	0.002450	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172738	207172738	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:207172738G>A	ENST00000374423.3	+	5	3872	c.3486G>A	c.(3484-3486)ttG>ttA	p.L1162L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1162							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAATGAATTTGGATTCTGGTT	0.368000													15	73					0	0	0.002450	0	0
PRKG2	5593	broad.mit.edu	37	4	82090825	82090825	+	Silent	SNP	G	G	A	rs66957415		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:82090825G>A	ENST00000395578.1	-	5	956	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PRKG2_ENST00000418486.2_Silent_p.F280F|PRKG2_ENST00000264399.1_Silent_p.F280F|RP11-100N20.1_ENST00000512502.1_RNA			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	280					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACCTTCTGAGGAAGTTTCTGT	0.368000													14	54					0	0	0.001855	0	0
DHX29	54505	broad.mit.edu	37	5	54579183	54579183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:54579183C>T	ENST00000251636.5	-	11	1961	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	605	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAATGTGGTACCTGAGTACTT	0.413000													15	72					0	0	0.002450	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189258	102189258	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:102189258G>A	ENST00000306176.1	+	9	1102	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	ZPLD1_ENST00000491959.1_Silent_p.R318R|ZPLD1_ENST00000466937.1_Silent_p.R318R	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	318						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACAGAGAAAGGAGAGATGCTG	0.502000													9	43					0	0	0.004482	0	0
LRCH4	4034	broad.mit.edu	37	7	100173348	100173348	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:100173348G>C	ENST00000310300.6	-	17	1886	c.1834C>G	c.(1834-1836)Cga>Gga	p.R612G	LRCH4_ENST00000497245.1_Missense_Mutation_p.R160G	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	612	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCATTTTTCGACAGGCTTCT	0.542000													6	242					0	0	0.003080	0	0
PROKR1	10887	broad.mit.edu	37	2	68872957	68872957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:68872957G>A	ENST00000303786.3	+	2	424	c.4G>A	c.(4-6)Gag>Aag	p.E2K	PROKR1_ENST00000394342.2_Missense_Mutation_p.E2K			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	2						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGCCAGATGGAGACCACCAT	0.557000													20	80					0	0	0.001216	0	0
CRX	1406	broad.mit.edu	37	19	48342688	48342688	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:48342688G>C	ENST00000221996.7	+	4	570	c.364G>C	c.(364-366)Ggc>Cgc	p.G122R	CRX_ENST00000539067.1_Missense_Mutation_p.G122R|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	122			G -> D (in RP).		organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGGAAGGCGGGCACGTCCCC	0.662000													14	48					0	0	0.002450	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975869	76975869	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:76975869G>A	ENST00000409911.1	-	3	1951	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	LRRTM4_ENST00000409884.1_Silent_p.I575I|LRRTM4_ENST00000409093.1_Silent_p.I575I	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	575						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCGACCTGGCGATGGTGGCGA	0.612000													37	155					0	0	0.003610	0	0
WDR20	91833	broad.mit.edu	37	14	102675408	102675408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:102675408C>T	ENST00000335263.5	+	3	981	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	WDR20_ENST00000556807.1_Missense_Mutation_p.H240Y|WDR20_ENST00000545563.1_Missense_Mutation_p.H128Y|WDR20_ENST00000499851.2_Missense_Mutation_p.H44Y|WDR20_ENST00000454394.2_Missense_Mutation_p.H332Y|WDR20_ENST00000424963.2_Missense_Mutation_p.H177Y|WDR20_ENST00000342702.3_Missense_Mutation_p.H301Y|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556511.2_Missense_Mutation_p.H240Y	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	301										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						AGCCAGAGGCCACGGGCACAA	0.537000													8	43					0	0	0.004482	0	0
FMNL2	114793	broad.mit.edu	37	2	153399278	153399278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:153399278C>T	ENST00000288670.9	+	3	594	c.227C>T	c.(226-228)cCc>cTc	p.P76L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	76	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAGAATCCTCCCCATACATAC	0.418000													15	52					0	0	0.006122	0	0
C20orf26	26074	broad.mit.edu	37	20	20140015	20140015	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:20140015G>A	ENST00000245957.5	+	10	1029	c.951_splice	c.e10-1	p.G318_splice	C20orf26_ENST00000377306.1_Splice_Site_p.G318_splice|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Splice_Site_p.G318_splice|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	318										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATTTCCAGGGAAATATTGCC	0.483000													15	62					0	0	0.004990	0	0
UNC93A	54346	broad.mit.edu	37	6	167717445	167717445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:167717445C>T	ENST00000230256.3	+	5	839	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	UNC93A_ENST00000366829.2_Missense_Mutation_p.L180F	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	222						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGCTGCGTTCCTCCAACCCAT	0.502000													13	60					0	0	0.004990	0	0
PRB2	653247	broad.mit.edu	37	12	11546713	11546713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:11546713C>T	ENST00000389362.4	-	3	334	c.299G>A	c.(298-300)gGa>gAa	p.G100E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.612000													62	338					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100880528	100880528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:100880528G>A	ENST00000358544.2	+	59	11413	c.11302G>A	c.(11302-11304)Ggt>Agt	p.G3768S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G3743S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3768					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCAATTGCTGGTATAGTTGA	0.478000													13	39					0	0	0.002450	0	0
FOXRED1	55572	broad.mit.edu	37	11	126141523	126141523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:126141523C>T	ENST00000263578.5	+	2	351	c.277C>T	c.(277-279)Cga>Tga	p.R93*	FOXRED1_ENST00000532125.1_Nonsense_Mutation_p.R79*|FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	93						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGGTGCTATTCGAGTGCTAGT	0.562000													12	63					0	0	0.001368	0	0
RSPH3	83861	broad.mit.edu	37	6	159420551	159420551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:159420551C>T	ENST00000367069.2	-	1	668	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000252655.1_Missense_Mutation_p.R153Q|RSPH3_ENST00000449822.1_Missense_Mutation_p.R11Q|RSPH3_ENST00000297262.3_Missense_Mutation_p.R153Q			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	153										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCTCGGGGCCCGAGAGGTGCG	0.662000													10	62					0	0	0.000673	0	0
DRD2	1813	broad.mit.edu	37	11	113295295	113295295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:113295295C>T	ENST00000362072.3	-	2	423	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	DRD2_ENST00000346454.3_Missense_Mutation_p.G27R|DRD2_ENST00000542968.1_Missense_Mutation_p.G27R|DRD2_ENST00000544518.1_Missense_Mutation_p.G27R|DRD2_ENST00000538967.1_Missense_Mutation_p.G27R|DRD2_ENST00000355319.2_Missense_Mutation_p.G27R	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	27					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCCGCCTTCCCGTCTGACCCG	0.582000													19	56					0	0	0.001523	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532463	76532463	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:76532463G>A	ENST00000307431.8	+	16	2619		c.e16-1		CNTNAP4_ENST00000469589.1_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000476707.1_Splice_Site|CNTNAP4_ENST00000377504.4_Splice_Site	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTGTTTTTTAGGACCAATGAC	0.348000													5	48					0	0	0.003080	0	0
GPR98	84059	broad.mit.edu	37	5	89990242	89990242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:89990242C>T	ENST00000405460.2	+	33	7765	c.7669C>T	c.(7669-7671)Cag>Tag	p.Q2557*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2557					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTGAAAAATCAGCCAACCAT	0.383000													24	137					0	0	0.003954	0	0
TLR4	7099	broad.mit.edu	37	9	120475867	120475867	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:120475867C>T	ENST00000355622.6	+	3	1562	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.F447F	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	487					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGAAAACTTCCTTCCAGATA	0.448000													21	56					0	0	0.001216	0	0
DAW1	164781	broad.mit.edu	37	2	228750134	228750134	+	Silent	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:228750134T>A	ENST00000373666.2	+	2	744	c.108T>A	c.(106-108)ggT>ggA	p.G36G	DAW1_ENST00000545118.1_Silent_p.G21G|DAW1_ENST00000309931.2_Silent_p.G36G					dynein assembly factor with WDR repeat domains 1																		TTGATCTTGGTCCCAGGTAAG	0.348000													11	51					0	0	0.004007	0	0
TIGD4	201798	broad.mit.edu	37	4	153691255	153691255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:153691255G>A	ENST00000304337.2	-	2	1722	c.902C>T	c.(901-903)tCc>tTc	p.S301F		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	301	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.S301F(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TAACTCAATGGATTTTAGGTT	0.368000													15	74					0	0	0.003163	0	0
DNAH1	25981	broad.mit.edu	37	3	52378581	52378581	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:52378581T>A	ENST00000420323.2	+	9	1623	c.1362T>A	c.(1360-1362)ttT>ttA	p.F454L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	454	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGATCAACTTTGACCACGTTG	0.567000													5	40					0	0	0.000602	0	0
ANLN	54443	broad.mit.edu	37	7	36466575	36466575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:36466575C>T	ENST00000265748.2	+	20	3042	c.2821C>T	c.(2821-2823)Ctt>Ttt	p.L941F	ANLN_ENST00000396068.2_Missense_Mutation_p.L904F	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	941	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAACTTCGCCCTTGTTGGATC	0.393000													27	63					0	0	0.006320	0	0
SRCAP	10847	broad.mit.edu	37	16	30740881	30740881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:30740881C>T	ENST00000262518.4	+	27	6500	c.6115C>T	c.(6115-6117)Cag>Tag	p.Q2039*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.Q1977*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.Q1881*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2039					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			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)			AAGACTCATCCAGTATGATTG	0.493000													15	120					0	0	0.003163	0	0
DPYSL5	56896	broad.mit.edu	37	2	27121457	27121457	+	Silent	SNP	C	C	T	rs144960416		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:27121457C>T	ENST00000288699.6	+	2	248	c.90C>T	c.(88-90)atC>atT	p.I30I	DPYSL5_ENST00000401478.1_Silent_p.I30I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	30					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTCTACATCGAGAATGGCA	0.577000													10	69					0	0	0.006214	0	0
CNTN1	1272	broad.mit.edu	37	12	41423019	41423019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:41423019C>T	ENST00000551295.2	+	23	3095	c.2978C>T	c.(2977-2979)tCa>tTa	p.S993L	CNTN1_ENST00000348761.2_Missense_Mutation_p.S982L|CNTN1_ENST00000347616.1_Missense_Mutation_p.S993L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	993	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTCAAAATTTCAGGTAAGTGA	0.468000													12	83					0	0	0.001855	0	0
AGAP11	119385	broad.mit.edu	37	10	88768937	88768937	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:88768937C>T	ENST00000444431.1	+	0	3537				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CCTGGCCAGCCTGCAGTCATG	0.582000													23	161					0	0	0.005443	0	0
HERC1	8925	broad.mit.edu	37	15	64067493	64067493	+	Silent	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:64067493G>C	ENST00000443617.2	-	2	417	c.330C>G	c.(328-330)ctC>ctG	p.L110L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	110					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGACACGCTGGAGTACAAGCA	0.473000													40	51					0	0	0.006230	0	0
GSDMA	284110	broad.mit.edu	37	17	38122528	38122528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:38122528G>A	ENST00000301659.4	+	3	348	c.230G>A	c.(229-231)gGg>gAg	p.G77E		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	77					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACAGACACTGGGAATTTTGGC	0.542000													15	44					0	0	0.004007	0	0
NLRP13	126204	broad.mit.edu	37	19	56424493	56424493	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:56424493C>T	ENST00000588751.1	-	5	714	c.690G>A	c.(688-690)acG>acA	p.T230T	NLRP13_ENST00000342929.3_Silent_p.T230T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	230	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCAAGACTATCGTCTGGGCCT	0.522000													30	101					0	0	0.002096	0	0
PPP4R1	9989	broad.mit.edu	37	18	9549288	9549288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:9549288G>A	ENST00000400556.3	-	19	2669	c.2596C>T	c.(2596-2598)Ctc>Ttc	p.L866F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L849F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	866					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TGCGGCATGAGATGCACAGCA	0.468000													28	96					0	0	0.001512	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572684	140572684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140572684G>A	ENST00000239446.4	+	1	743	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		187	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGTGATGAAGGCATGAT	0.493000													34	161					0	0	0.001951	0	0
PSME4	23198	broad.mit.edu	37	2	54146315	54146315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:54146315G>A	ENST00000404125.1	-	20	2544	c.2489C>T	c.(2488-2490)cCg>cTg	p.P830L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	830					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCTTTCAACGGAGGTAGGAG	0.318000													9	42					0	0	0.006214	0	0
ZNF28	7576	broad.mit.edu	37	19	53303297	53303297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:53303297G>A	ENST00000438150.2	-	2	2535	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	ZNF28_ENST00000414252.2_Missense_Mutation_p.H548Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.H548Y|ZNF28_ENST00000457749.2_Missense_Mutation_p.H601Y			P17035	ZNF28_HUMAN	zinc finger protein 28	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TCTCCAGTATGAACTCTCTGA	0.448000													22	134					0	0	0.006320	0	0
FANCE	2178	broad.mit.edu	37	6	35423925	35423925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:35423925C>T	ENST00000229769.2	+	2	835	c.650C>T	c.(649-651)cCc>cTc	p.P217L		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	217	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AAGAGGGTCCCCAAAAGATTA	0.542000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	44					0	0	0.000978	0	0
USH2A	7399	broad.mit.edu	37	1	215824121	215824121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:215824121C>T	ENST00000366943.2	-	65	14542	c.14156G>A	c.(14155-14157)gGa>gAa	p.G4719E	USH2A_ENST00000307340.3_Missense_Mutation_p.G4719E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4719	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGGGCTTTTCCTGCAGAATT	0.488000										HNSCC(13;0.011)			20	84					0	0	0.001216	0	0
KCNK10	54207	broad.mit.edu	37	14	88789097	88789097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:88789097G>A	ENST00000319231.5	-	1	496	c.46C>T	c.(46-48)Cct>Tct	p.P16S	KCNK10_ENST00000340700.5_Intron	NM_138317.2	NP_612190.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCACCTTTAGGATCCCAGTTC	0.502000													10	72					0	0	0.001855	0	0
KIF1A	547	broad.mit.edu	37	2	241737089	241737089	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:241737089G>A	ENST00000498729.2	-	2	327	c.81C>T	c.(79-81)atC>atT	p.I27I	KIF1A_ENST00000320389.7_Silent_p.I27I	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	27	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACATCTGAATGATGCACTTGG	0.627000													5	26					0	0	0.001984	0	0
PGM2	55276	broad.mit.edu	37	4	37846085	37846085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:37846085C>T	ENST00000381967.4	+	7	920	c.820C>T	c.(820-822)Cct>Tct	p.P274S	PGM2_ENST00000537241.1_Missense_Mutation_p.P114S|PGM2_ENST00000544359.1_Missense_Mutation_p.P135S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	274					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGACCTTGTTCCTCCTGAGGC	0.493000													17	115					0	0	0.001882	0	0
CLEC12A	160364	broad.mit.edu	37	12	10124234	10124234	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:10124234G>A	ENST00000304361.4	+	1	221	c.39G>A	c.(37-39)caG>caA	p.Q13Q	CLEC12A_ENST00000355690.4_Silent_p.Q23Q|CLEC12A_ENST00000434319.2_Silent_p.Q13Q|CLEC12A_ENST00000350667.4_Silent_p.Q13Q	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	13						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TTCAATTCCAGAACTCCAGTG	0.323000													15	75					0	0	0.004007	0	0
COL10A1	1300	broad.mit.edu	37	6	116442033	116442033	+	Missense_Mutation	SNP	C	C	T	rs138141648		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:116442033C>T	ENST00000327673.4	-	2	1653	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	COL10A1_ENST00000243222.4_Missense_Mutation_p.G416R|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	416	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCAGGAGGTCCTCCAACTCCA	0.592000													19	55					0	0	0.001523	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987342	154987342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154987342G>A	ENST00000368426.3	+	3	343	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G69E|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G103E|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G69E	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	69	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCGGTGGCGGAGCTGTCATG	0.652000													15	63					0	0	0.002450	0	0
PRDM4	11108	broad.mit.edu	37	12	108128154	108128154	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:108128154G>T	ENST00000228437.5	-	12	2698	c.2239C>A	c.(2239-2241)Cgc>Agc	p.R747S		NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	747					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTCAGGTGGCGGGTGAGATGG	0.453000													6	130					0.00116845	0.00243524	0.001168	1	0
PIGO	84720	broad.mit.edu	37	9	35093124	35093124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:35093124C>T	ENST00000378617.3	-	6	1416	c.1022G>A	c.(1021-1023)gGg>gAg	p.G341E	PIGO_ENST00000361778.2_Missense_Mutation_p.G341E|PIGO_ENST00000298004.5_Missense_Mutation_p.G341E|PIGO_ENST00000341666.3_Missense_Mutation_p.G341E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	341					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.G341V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CATCACTTCCCCGATATTCCC	0.562000													4	44					0	0	0.000248	0	0
LOC541473	541473	broad.mit.edu	37	7	75023590	75023590	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:75023590G>A	ENST00000275590.5	-	0	368				STAG3L1_ENST00000402225.5_RNA	NR_003602.2																						AATTAGAATCGAAGGGTCTGT	0.418000													17	62					0	0	0.007413	0	0
SLC44A5	204962	broad.mit.edu	37	1	75677163	75677163	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:75677163G>A	ENST00000370855.5	-	23	2150	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	SLC44A5_ENST00000370859.3_Silent_p.F679F|SLC44A5_ENST00000535611.1_Silent_p.F549F	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	679						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGAAGCAGATGAAAATTGTTT	0.443000													13	32					0	0	0.001855	0	0
NWD1	284434	broad.mit.edu	37	19	16860484	16860484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:16860484G>A	ENST00000524140.2	+	6	1449	c.1031G>A	c.(1030-1032)gGc>gAc	p.G344D	NWD1_ENST00000552788.1_Missense_Mutation_p.G344D|NWD1_ENST00000549814.1_Missense_Mutation_p.G344D|NWD1_ENST00000523826.1_Missense_Mutation_p.G138D|NWD1_ENST00000379808.3_Missense_Mutation_p.G344D|NWD1_ENST00000339803.6_Missense_Mutation_p.G209D	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	344	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGGCCCCCAGGCATTGGAAAG	0.632000													11	35					0	0	0.000673	0	0
GLCCI1	113263	broad.mit.edu	37	7	8124620	8124620	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:8124620A>C	ENST00000223145.5	+	7	1828	c.1271A>C	c.(1270-1272)gAg>gCg	p.E424A		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	424										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGGGATGTGAGCGAGTGAAG	0.453000													13	65					0	0	0.002450	0	0
LRTM1	57408	broad.mit.edu	37	3	54959205	54959205	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:54959205G>A	ENST00000273286.5	-	2	207	c.45C>T	c.(43-45)ctC>ctT	p.L15L	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_5'UTR	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	15						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATACCACCTGGAGCAGGACAA	0.473000													7	53					0	0	0.003080	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273852	18273852	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:18273852C>T	ENST00000593731.1	+	10	1745	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	PIK3R2_ENST00000222254.7_Silent_p.F395F			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	395	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CACTCACCTTCTGCTCCGTTG	0.567000													7	35					0	0	0.001984	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115717	25115717	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:25115717G>C	ENST00000332271.5	-	20	2946	c.2530C>G	c.(2530-2532)Cca>Gca	p.P844A	PIWIL3_ENST00000533313.1_Missense_Mutation_p.P726A|PIWIL3_ENST00000527701.1_Missense_Mutation_p.P726A|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	844	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTACTTACTGGCAAATTATAA	0.338000													18	49					0	0	0.007413	0	0
NFKBIB	4793	broad.mit.edu	37	19	39398053	39398053	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:39398053C>T	ENST00000392079.3	+	5	725	c.627C>T	c.(625-627)ggC>ggT	p.G209G	NFKBIB_ENST00000572515.1_Silent_p.G241G|NFKBIB_ENST00000313582.5_Silent_p.G241G			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	241					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCACGTGCGGCCGGAGCCCCC	0.687000													8	81					0	0	0.006214	0	0
LAMA3	3909	broad.mit.edu	37	18	21501544	21501544	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:21501544G>A	ENST00000313654.9	+	62	8413	c.8172G>A	c.(8170-8172)agG>agA	p.R2724R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.R1115R|LAMA3_ENST00000587184.1_Silent_p.R1059R|LAMA3_ENST00000399516.3_Silent_p.R2668R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2724	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCAATCAGGGAAAGGTAAG	0.338000													22	99					0	0	0.005443	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237071	140237071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140237071G>A	ENST00000307360.5	+	1	1438	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D480N|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														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)			GTCTGCGTGGGACGCGGACGC	0.657000													18	115					0	0	0.007413	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579527	140579527	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140579527C>T	ENST00000354757.3	+	1	180	c.180C>T	c.(178-180)tcC>tcT	p.S60S	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		60	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTGTCCTCACGGGGGG	0.512000													12	67					0	0	0.001855	0	0
LRBA	987	broad.mit.edu	37	4	151392883	151392883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:151392883G>A	ENST00000535741.1	-	43	7033	c.6560C>T	c.(6559-6561)tCa>tTa	p.S2187L	LRBA_ENST00000357115.3_Missense_Mutation_p.S2198L|LRBA_ENST00000510413.1_Missense_Mutation_p.S2187L|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.S2187L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2198						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACTAGCTAATGAAATACGTCT	0.313000													10	86					0	0	0.006214	0	0
ASXL1	171023	broad.mit.edu	37	20	31021579	31021579	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:31021579C>T	ENST00000375687.4	+	12	2002	c.1578C>T	c.(1576-1578)tcC>tcT	p.S526S	ASXL1_ENST00000306058.5_Silent_p.S521S	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	526					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAGGAAATCCTTTGAGCAGG	0.512000			"""F, N, Mis"""		"""MDS, CMML"""								26	167					0	0	0.004656	0	0
LYPLA2	11313	broad.mit.edu	37	1	24120985	24120985	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:24120985C>T	ENST00000374514.3	+	9	847	c.540C>T	c.(538-540)ccC>ccT	p.P180P	LYPLA2_ENST00000374503.3_Intron|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374502.3_3'UTR|LYPLA2_ENST00000374501.1_Silent_p.P113P|LYPLA2_ENST00000374505.2_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	180					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCATGGTGCCCGTACGGTTTG	0.617000													8	32					0	0	0.004482	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502614	90502614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:90502614G>A	ENST00000325643.5	+	4	3278	c.3212G>A	c.(3211-3213)gGg>gAg	p.G1071E		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGGGCTCTGGGGACCACTGGT	0.587000													24	76					0	0	0.005443	0	0
NSDHL	50814	broad.mit.edu	37	X	152037544	152037544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:152037544C>T	ENST00000370274.3	+	8	1200	c.1006C>T	c.(1006-1008)Cac>Tac	p.H336Y	NSDHL_ENST00000440023.1_Missense_Mutation_p.H336Y	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	336					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TGGCACATTCCACTACTACAG	0.587000													8	18					0	0	0.003080	0	0
CXorf36	79742	broad.mit.edu	37	X	45011044	45011044	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:45011044G>A	ENST00000398000.2	-	5	1229	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	385						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						ACTGAACAAGGATGGAGTCTA	0.587000													11	21					0	0	0.000673	0	0
ABCB1	5243	broad.mit.edu	37	7	87196208	87196208	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:87196208T>C	ENST00000265724.3	-	7	840	c.423A>G	c.(421-423)ggA>ggG	p.G141G	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	141	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTATTTGTCTTCCAGCTGCCA	0.433000													16	47					0	0	0.004007	0	0
TAAR2	9287	broad.mit.edu	37	6	132938515	132938515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:132938515G>A	ENST00000275191.2	-	1	802	c.695C>T	c.(694-696)cCt>cTt	p.P232L	TAAR2_ENST00000537809.1_Missense_Mutation_p.P232L|TAAR2_ENST00000367931.1_Missense_Mutation_p.P277L	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	277						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GAAGAAACAAGGAAACCAACA	0.328000													9	24					0	0	0.000673	0	0
ELTD1	64123	broad.mit.edu	37	1	79357344	79357344	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:79357344G>A	ENST00000370742.3	-	14	1938	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	625					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F625L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCCGAGAAGGAACAGAAGAG	0.478000													4	40					0	0	0.000248	0	0
ZNF331	55422	broad.mit.edu	37	19	54080951	54080951	+	Silent	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:54080951C>G	ENST00000253144.9	+	7	2470	c.1137C>G	c.(1135-1137)ggC>ggG	p.G379G	ZNF331_ENST00000513999.1_Silent_p.G379G|ZNF331_ENST00000512387.1_Silent_p.G379G|ZNF331_ENST00000511593.2_Silent_p.G379G|ZNF331_ENST00000511154.1_Silent_p.G379G|ZNF331_ENST00000411977.2_Silent_p.G379G|ZNF331_ENST00000449416.1_Silent_p.G379G	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCCACACAGGCGAAACCCCGT	0.493000			T	?	follicular thyroid adenoma								5	50					0	0	0.000602	0	0
NRIP1	8204	broad.mit.edu	37	21	16340074	16340074	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:16340074A>G	ENST00000400202.1	-	3	1152	c.440T>C	c.(439-441)gTt>gCt	p.V147A	NRIP1_ENST00000400199.1_Missense_Mutation_p.V147A|NRIP1_ENST00000318948.4_Missense_Mutation_p.V147A			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	147	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGACAGAGCAACAGTCTGCAG	0.468000													11	46					0	0	0.000673	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603448	36603448	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:36603448G>A	ENST00000373166.3	-	4	462	c.372C>T	c.(370-372)tcC>tcT	p.S124S	TRAPPC3_ENST00000373162.1_Silent_p.S78S|TRAPPC3_ENST00000373163.1_Silent_p.S78S|TRAPPC3_ENST00000462715.1_5'UTR	NM_001270896.1|NM_014408.3	NP_001257825.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	124						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				AATAAATAAGGGATGAGTGGT	0.458000													20	60					0	0	0.001216	0	0
IL17F	112744	broad.mit.edu	37	6	52103660	52103660	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:52103660A>G	ENST00000336123.4	-	2	229	c.122T>C	c.(121-123)tTc>tCc	p.F41S		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	41					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					AGGCTTTTGGAAAAAAGTATG	0.483000													12	68					0	0	0.001855	0	0
C1orf227	149643	broad.mit.edu	37	1	213009267	213009267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:213009267C>T	ENST00000332912.3	-	2	332	c.225G>A	c.(223-225)tgG>tgA	p.W75*		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	75										kidney(1)|large_intestine(1)|lung(1)	3						TCAGCTTGATCCAGGAGCTCC	0.428000													17	113					0	0	0.007413	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958845	111958845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:111958845C>T	ENST00000305815.5	-	12	1540	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D382N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	430					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GATGTGGCATCACGAAGACCT	0.343000													5	35					0	0	0.000602	0	0
PDZD2	23037	broad.mit.edu	37	5	32090403	32090403	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:32090403G>A	ENST00000438447.1	+	20	7237	c.6849G>A	c.(6847-6849)ctG>ctA	p.L2283L	PDZD2_ENST00000282493.3_Silent_p.L2283L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2283					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TAAAGCCGCTGCTGGACACAT	0.522000													18	76					0	0	0.002299	0	0
NRG1	3084	broad.mit.edu	37	8	32505589	32505589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:32505589G>A	ENST00000520502.2	+	1	353	c.353G>A	c.(352-354)gGc>gAc	p.G118D	NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000519301.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGGGGGTTAGGCCAGGACCCT	0.532000													15	68					0	0	0.002450	0	0
WRNIP1	56897	broad.mit.edu	37	6	2768977	2768977	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:2768977T>A	ENST00000380769.4	+	2	446	c.215T>A	c.(214-216)tTt>tAt	p.F72Y	WRNIP1_ENST00000380771.4_Missense_Mutation_p.F292Y|WRNIP1_ENST00000380773.4_Missense_Mutation_p.F292Y			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	292					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGCATAAGGTTTGTGACATTA	0.383000													12	36					0	0	0.000978	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47634049	47634049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:47634049C>T	ENST00000371917.4	+	33	4471	c.4471C>T	c.(4471-4473)Cct>Tct	p.P1491S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1491					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACATGGAGACCTGTAGGAAT	0.338000													26	115					0	0	0.001512	0	0
C2CD2	25966	broad.mit.edu	37	21	43321859	43321859	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:43321859C>T	ENST00000380486.3	-	12	1674		c.e12-1		C2CD2_ENST00000329623.7_Splice_Site	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2							cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						ACCAACAATTCTACCAGAAGG	0.443000													5	21					0	0	0.000602	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659245	121659245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:121659245G>A	ENST00000489711.1	+	21	2311	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	SLC15A2_ENST00000295605.2_Missense_Mutation_p.M610I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	641					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTCTAGCATGAAATCTGTGC	0.498000													10	50					0	0	0.000978	0	0
TRERF1	55809	broad.mit.edu	37	6	42236589	42236589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:42236589C>T	ENST00000541110.1	-	5	1308	c.740G>A	c.(739-741)gGa>gAa	p.G247E	TRERF1_ENST00000372922.4_Missense_Mutation_p.G247E|TRERF1_ENST00000354325.2_Missense_Mutation_p.G247E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G247E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G247E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	247	Gln-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCTGTCCTCCCTGCACTGG	0.602000													14	57					0	0	0.004007	0	0
FGL2	10875	broad.mit.edu	37	7	76828889	76828889	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:76828889C>T	ENST00000248598.5	-	1	254	c.222G>A	c.(220-222)agG>agA	p.R74R	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	74					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCTCCTCGATCCTGCTGAATT	0.502000													24	112					0	0	0.003954	0	0
GSS	2937	broad.mit.edu	37	20	33533886	33533886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:33533886G>A	ENST00000216951.2	-	3	243	c.145C>T	c.(145-147)Cca>Tca	p.P49S	GSS_ENST00000451957.2_Missense_Mutation_p.P49S|GSS_ENST00000541098.1_5'UTR	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	49					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	AGCGTGAATGGGGCATAGCTC	0.547000													10	141					0	0	0.002450	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080826	148080826	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:148080826C>T	ENST00000361727.3	+	22	4077	c.3561C>T	c.(3559-3561)atC>atT	p.I1187I	CNTNAP2_ENST00000538075.1_Silent_p.I246I|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1187	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.I1187I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAACCAGATCGCCCCTCTCA	0.552000										HNSCC(39;0.1)			10	54					0	0	0.001368	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547761	9547761	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:9547761A>T	ENST00000287585.6	-	3	818	c.533T>A	c.(532-534)aTc>aAc	p.I178N		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	178						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GATGGCCAGGATGTATGCCCA	0.612000													9	58					0	0	0.000673	0	0
ANK3	288	broad.mit.edu	37	10	61834589	61834589	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:61834589T>C	ENST00000280772.1	-	37	6241	c.6050A>G	c.(6049-6051)cAa>cGa	p.Q2017R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2017					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCTTTTACTTGCACTCTCTC	0.423000													34	96					0	0	0.004289	0	0
NCOR1	9611	broad.mit.edu	37	17	15942761	15942761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:15942761G>A	ENST00000268712.3	-	44	7198	c.6941C>T	c.(6940-6942)cCa>cTa	p.P2314L	NCOR1_ENST00000395857.3_Missense_Mutation_p.P898L|NCOR1_ENST00000395851.1_Missense_Mutation_p.P2211L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2314	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATGAGGTGATGGGTCCCCTTC	0.468000													6	31					0	0	0.001984	0	0
ZNF385A	25946	broad.mit.edu	37	12	54767881	54767881	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:54767881G>A	ENST00000546970.1	-	5	526	c.237C>T	c.(235-237)gcC>gcT	p.A79A	ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Silent_p.A79A|ZNF385A_ENST00000551109.1_Silent_p.A79A|ZNF385A_ENST00000394313.2_Silent_p.A79A|ZNF385A_ENST00000338010.5_Silent_p.A99A|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Silent_p.A99A			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TGACTCGTCGGGCGTGGCGAT	0.577000													10	40					0	0	0.000978	0	0
DNAH3	55567	broad.mit.edu	37	16	21051177	21051177	+	Missense_Mutation	SNP	C	C	T	rs12927146		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:21051177C>T	ENST00000261383.3	-	33	4726	c.4727G>A	c.(4726-4728)aGa>aAa	p.R1576K	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1576K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1576	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AACACACCTTCTGGAGTCCAG	0.483000													23	96					0	0	0.005443	0	0
PAPPA	5069	broad.mit.edu	37	9	119028244	119028244	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:119028244T>C	ENST00000328252.3	+	8	3210	c.2841T>C	c.(2839-2841)tgT>tgC	p.C947C	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	947					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.C947C(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGGGTACTGTGGCGATGGCA	0.438000													13	34					0	0	0.001368	0	0
COL4A5	1287	broad.mit.edu	37	X	107814658	107814658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:107814658C>T	ENST00000328300.6	+	7	644	c.400C>T	c.(400-402)Cca>Tca	p.P134S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P134S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	134	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACGTGGATTTCCAGGCAGTCC	0.368000									Alport syndrome with Diffuse Leiomyomatosis				59	84					0	0	0.003610	0	0
ZNF429	353088	broad.mit.edu	37	19	21712511	21712511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:21712511C>T	ENST00000358491.4	+	2	263	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ZNF429_ENST00000597078.1_Nonsense_Mutation_p.Q19*|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GGAGGAGTGGCAGTGCCTGGA	0.413000													17	90					0	0	0.007413	0	0
CRYBA1	1411	broad.mit.edu	37	17	27576199	27576199	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:27576199C>A	ENST00000225387.3	+	2	72	c.71C>A	c.(70-72)aCg>aAg	p.T24K		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	24	N-terminal arm.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ACCAACCCTACGCCGGGGTCC	0.612000													13	52					0.00316338	0.00657827	0.003163	1	0
ACBD3	64746	broad.mit.edu	37	1	226353593	226353593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:226353593A>G	ENST00000366812.5	-	2	449	c.395T>C	c.(394-396)gTt>gCt	p.V132A		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	132	ACB.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AAAGAATCCAACCTCAGGACA	0.393000													4	47					0	0	0.001168	0	0
VGLL3	389136	broad.mit.edu	37	3	87039870	87039870	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:87039870A>T	ENST00000398399.2	-	1	387	c.24T>A	c.(22-24)taT>taA	p.Y8*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.Y8*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGGGGTGATACATCACCT	0.716000													11	19					0	0	0.000978	0	0
CRX	1406	broad.mit.edu	37	19	48342687	48342687	+	Silent	SNP	G	G	A	rs141888455		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:48342687G>A	ENST00000221996.7	+	4	569	c.363G>A	c.(361-363)gcG>gcA	p.A121A	CRX_ENST00000539067.1_Silent_p.A121A|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	121					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AGAGGAAGGCGGGCACGTCCC	0.657000													14	46					0	0	0.002450	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077973	57077973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:57077973G>A	ENST00000532437.1	-	5	2523	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P738S|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	738	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			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)				CTGGGCTGTGGGTCTCCTGTG	0.512000													11	58					0	0	0.001368	0	0
CTSS	1520	broad.mit.edu	37	1	150727493	150727493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:150727493G>A	ENST00000368985.3	-	4	643	c.383C>T	c.(382-384)aCt>aTt	p.T128I	CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	128					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTTCACTTCAGTAACACACCC	0.423000													31	150					0	0	0.002096	0	0
LPPR1	54886	broad.mit.edu	37	9	104032255	104032255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:104032255G>A	ENST00000374874.3	+	3	596	c.157G>A	c.(157-159)Gga>Aga	p.G53R	LPPR1_ENST00000395056.2_Missense_Mutation_p.G53R	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		53						integral to membrane	catalytic activity										CTGTCAGGACGGAGACTTAAT	0.493000													20	39					0	0	0.001523	0	0
DOK2	9046	broad.mit.edu	37	8	21767095	21767095	+	Silent	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:21767095A>T	ENST00000276420.4	-	5	1224	c.966T>A	c.(964-966)ccT>ccA	p.P322P	DOK2_ENST00000544659.1_Silent_p.P168P	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	322	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCAGGAGCTGAGGAGGGACTG	0.652000													17	67					0	0	0.007413	0	0
NRCAM	4897	broad.mit.edu	37	7	107834800	107834800	+	Silent	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:107834800A>T	ENST00000379028.3	-	16	2006	c.1536T>A	c.(1534-1536)atT>atA	p.I512I	NRCAM_ENST00000379022.4_Silent_p.I512I|NRCAM_ENST00000379024.4_Silent_p.I493I|NRCAM_ENST00000351718.4_Silent_p.I506I|NRCAM_ENST00000413765.2_Silent_p.I493I|NRCAM_ENST00000425651.2_Silent_p.I512I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	512	Ig-like 5.			I -> IKDATWIVKEI (in Ref. 1; AAC50765).	angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGGCCACAGGAATTTCCAAAG	0.358000													35	64					0	0	0.002836	0	0
UBXN1	51035	broad.mit.edu	37	11	62445872	62445872	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:62445872A>T	ENST00000294119.2	-	4	360	c.229T>A	c.(229-231)Tct>Act	p.S77T	UBXN1_ENST00000301935.5_Missense_Mutation_p.S77T|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.S77T	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	77	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CCGGCAGCAGAACCAGATCCT	0.473000													17	81					0	0	0.007413	0	0
NFIC	4782	broad.mit.edu	37	19	3449011	3449011	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:3449011G>A	ENST00000589123.1	+	7	1051		c.e7-1		NFIC_ENST00000341919.3_Splice_Site|NFIC_ENST00000346156.5_Splice_Site|NFIC_ENST00000586919.1_Splice_Site|NFIC_ENST00000590282.1_Splice_Site|NFIC_ENST00000395111.3_Splice_Site|NFIC_ENST00000443272.2_Splice_Site	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)						DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCCTCCACAGGCATCTCGTC	0.612000													20	85					0	0	0.003954	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984229	223984229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:223984229G>A	ENST00000391878.2	-	14	2393	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S671F|TP53BP2_ENST00000391879.2_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	665					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTGGCTATTGGAATAAATGTT	0.453000													16	152					0	0	0.004007	0	0
EPHA8	2046	broad.mit.edu	37	1	22915620	22915620	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:22915620C>T	ENST00000166244.3	+	5	1308	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	EPHA8_ENST00000374644.4_Silent_p.I412I|EPHA8_ENST00000538803.1_Silent_p.I412I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	412	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTCTGGATCGAGGCCGTCA	0.662000													7	24					0	0	0.001984	0	0
PROKR1	10887	broad.mit.edu	37	2	68873115	68873115	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:68873115T>C	ENST00000303786.3	+	2	582	c.162T>C	c.(160-162)aaT>aaC	p.N54N	PROKR1_ENST00000394342.2_Silent_p.N54N			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	54						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGTGACCAATTCCAGGACGT	0.512000													29	125					0	0	0.001786	0	0
MYO1D	4642	broad.mit.edu	37	17	31107694	31107694	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:31107694G>A	ENST00000318217.5	-	2	508	c.204C>T	c.(202-204)ggC>ggT	p.G68G	MYO1D_ENST00000579584.1_Silent_p.G68G|MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000583621.1_Silent_p.G68G	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	68	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			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)			ACAGCTCACGGCCTTTATACT	0.443000													11	53					0	0	0.000673	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331401	55331401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55331401G>A	ENST00000391728.4	+	4	622	c.589G>A	c.(589-591)Ggt>Agt	p.G197S	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G197S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G197S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G102S|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G197S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G197S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CAGATGCTACGGTTCTGTTAC	0.537000													27	116					0	0	0.002445	0	0
SDK1	221935	broad.mit.edu	37	7	4091420	4091420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:4091420G>A	ENST00000404826.2	+	19	3008	c.2869G>A	c.(2869-2871)Ggg>Agg	p.G957R	SDK1_ENST00000389531.3_Missense_Mutation_p.G957R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	957	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCTGGGGACGGGCCTCCCAG	0.532000													28	132					0	0	0.002096	0	0
DNAH8	1769	broad.mit.edu	37	6	38980032	38980032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:38980032G>A	ENST00000359357.3	+	88	13016	c.12762G>A	c.(12760-12762)atG>atA	p.M4254I	DNAH8_ENST00000441566.1_Missense_Mutation_p.M4218I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTAATTCAATGAACATATTTC	0.343000													11	49					0	0	0.000978	0	0
CER1	9350	broad.mit.edu	37	9	14722376	14722376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:14722376C>T	ENST00000380911.3	-	1	339	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	99					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTATCTGAGTCCCTGGATGGA	0.537000													18	37					0	0	0.007413	0	0
FCRL5	83416	broad.mit.edu	37	1	157514075	157514075	+	Missense_Mutation	SNP	G	G	T	rs145991029		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:157514075G>T	ENST00000361835.3	-	5	978	c.821C>A	c.(820-822)cCg>cAg	p.P274Q	FCRL5_ENST00000368191.3_Missense_Mutation_p.P189Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.P274Q|FCRL5_ENST00000368189.3_Missense_Mutation_p.P274Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.P274Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	274						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGGATCTCGGGCTGTCAGA	0.512000													5	172					0.00116845	0.00243524	0.001168	1	0
DRD5	1816	broad.mit.edu	37	4	9784227	9784227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:9784227G>A	ENST00000304374.2	+	1	970	c.574G>A	c.(574-576)Gac>Aac	p.D192N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	192					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGCGGGCTGGACCTGCCAAA	0.607000													13	40					0	0	0.001368	0	0
PSG8	440533	broad.mit.edu	37	19	43262407	43262407	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:43262407G>A	ENST00000404209.4	-	3	552	c.456C>T	c.(454-456)tcC>tcT	p.S152S	PSG8_ENST00000406636.3_Silent_p.S30S|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Silent_p.S152S|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	152	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTTGCTGCTGGAGATGGAGG	0.512000													37	165					0	0	0.007835	0	0
OR52A1	23538	broad.mit.edu	37	11	5173354	5173354	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:5173354C>T	ENST00000380367.1	-	2	663	c.246G>A	c.(244-246)aaG>aaA	p.K82K	OR52A1_ENST00000328942.1_Silent_p.K82K			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	82					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCAAGCATCTTTGGCATAA	0.438000													5	38					0	0	0.000602	0	0
MAN1A1	4121	broad.mit.edu	37	6	119522418	119522418	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:119522418C>T	ENST00000368468.3	-	8	1652		c.e8+1			NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1						post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTCTGACTTACGTTGACCCCA	0.388000													15	69					0	0	0.004007	0	0
FER1L6	654463	broad.mit.edu	37	8	125103762	125103762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:125103762G>A	ENST00000522917.1	+	34	4696	c.4490G>A	c.(4489-4491)gGg>gAg	p.G1497E	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.G1497E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1497						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTCACCCTGGGAAAATACAG	0.458000													13	56					0	0	0.001855	0	0
MIR1324	100302212	broad.mit.edu	37	3	75680001	75680001	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:75680001G>A	ENST00000408868.1	+	0	88					NR_031714.1																						CACTTTCCTGGAGGCTCCATG	0.527000													8	91					0	0	0.000978	0	0
CALU	813	broad.mit.edu	37	7	128394459	128394459	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:128394459G>T	ENST00000535623.1	+	4	1332	c.389G>T	c.(388-390)gGc>gTc	p.G130V	CALU_ENST00000479257.1_Missense_Mutation_p.G130V|CALU_ENST00000449187.2_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.G122V|CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000535011.2_Missense_Mutation_p.G122V	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	122	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AATGAGGACGGCCTCGTTTCC	0.502000													17	37					6.94344e-10	1.4619e-09	0.006122	1	0
MUC16	94025	broad.mit.edu	37	19	9084946	9084946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9084946G>A	ENST00000397910.4	-	1	7072	c.6869C>T	c.(6868-6870)cCt>cTt	p.P2290L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2290	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						CCCAGGAATAGGTGTCACTCT	0.448000													9	20					0	0	0.004482	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250024	37250024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:37250024C>T	ENST00000373491.3	+	4	631	c.485C>T	c.(484-486)cCc>cTc	p.P162L		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	162						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CCCATCATCCCCCTCGTTGCC	0.542000													8	49					0	0	0.003080	0	0
PARP16	54956	broad.mit.edu	37	15	65558942	65558942	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:65558942G>A	ENST00000261888.6	-	3	922	c.477C>T	c.(475-477)ttC>ttT	p.F159F	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	159	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAATGGAATGGAAGTTTTCTA	0.493000													21	49					0	0	0.003954	0	0
GRIA1	2890	broad.mit.edu	37	5	153175055	153175055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:153175055G>A	ENST00000340592.5	+	14	2363	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I	GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.V774I|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000518142.1_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	764					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAACCTAGCGGTTTTGAAACT	0.418000													5	15					0	0	0.000602	0	0
KRT80	144501	broad.mit.edu	37	12	52585451	52585451	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:52585451A>G	ENST00000313234.5	-	1	333	c.236T>C	c.(235-237)cTg>cCg	p.L79P	KRT80_ENST00000394815.2_Missense_Mutation_p.L79P	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	79	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CTGGTTCTTCAGCTGCTGAAC	0.562000													21	87					0	0	0.001523	0	0
ST7L	54879	broad.mit.edu	37	1	113161675	113161675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:113161675G>A	ENST00000358039.4	-	1	365	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ST7L_ENST00000369666.1_Missense_Mutation_p.P21S|ST7L_ENST00000369668.2_Missense_Mutation_p.P21S|ST7L_ENST00000360743.4_Missense_Mutation_p.P21S|ST7L_ENST00000343210.7_Missense_Mutation_p.P21S|ST7L_ENST00000544629.1_Missense_Mutation_p.P21S|ST7L_ENST00000543570.1_Missense_Mutation_p.P21S|ST7L_ENST00000490067.1_Missense_Mutation_p.P21S|ST7L_ENST00000463235.1_Intron	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	21					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTAGGCCAGGGACAGATGCA	0.692000													5	21					0	0	0.001168	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237795	132237795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:132237795G>A	ENST00000321253.6	+	4	636	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	177					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGCCCCCCAGGTCTCCACAGC	0.567000													36	173					0	0	0.006999	0	0
CNTRL	11064	broad.mit.edu	37	9	123858791	123858791	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:123858791A>C	ENST00000373855.1	+	6	831	c.571A>C	c.(571-573)Aag>Cag	p.K191Q	CNTRL_ENST00000373865.2_Missense_Mutation_p.K191Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.K191Q			Q7Z7A1	CNTRL_HUMAN	centriolin	191					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTTAGGGAAGAAGTTAAAATC	0.328000													17	84					0	0	0.007413	0	0
PTCD3	55037	broad.mit.edu	37	2	86352579	86352579	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:86352579A>G	ENST00000254630.7	+	11	872	c.804_splice	c.e11-1	p.H269_splice	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	269						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CTTTTCCAGCACCGAGCTTAT	0.398000													11	74					0	0	0.001368	0	0
DZIP3	9666	broad.mit.edu	37	3	108363472	108363472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:108363472G>A	ENST00000361582.3	+	14	1833	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	DZIP3_ENST00000463306.1_Missense_Mutation_p.D535N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	535					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAAAGTTTCAGATATTCTTCT	0.398000													18	74					0	0	0.001216	0	0
TTC7A	57217	broad.mit.edu	37	2	47177586	47177586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:47177586C>T	ENST00000319190.5	+	2	637	c.269C>T	c.(268-270)cCt>cTt	p.P90L	TTC7A_ENST00000536057.1_Missense_Mutation_p.P90L|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.P56L|TTC7A_ENST00000394850.2_Missense_Mutation_p.P90L	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	90							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GACTCCATGCCTTTGCTGGAG	0.473000													24	68					0	0	0.002780	0	0
NUP93	9688	broad.mit.edu	37	16	56868113	56868113	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:56868113G>A	ENST00000564887.1	+	12	1871	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	NUP93_ENST00000569842.1_Silent_p.R537R|NUP93_ENST00000542526.1_Silent_p.R414R|NUP93_ENST00000308159.5_Silent_p.R537R	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	537					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGTACACCCGGAAGTTTGAGT	0.532000													41	101					0	0	0.003214	0	0
CARD17	440068	broad.mit.edu	37	11	104971471	104971471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:104971471G>A	ENST00000375707.1	-	2	59	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17									p.R15S(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						CCCACTGAACGGATAAACTGC	0.433000													13	121					0	0	0.001855	0	0
PMS1	5378	broad.mit.edu	37	2	190728858	190728858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:190728858C>T	ENST00000441310.2	+	10	2479	c.2246C>T	c.(2245-2247)cCa>cTa	p.P749L	PMS1_ENST00000409823.3_Missense_Mutation_p.P710L|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Missense_Mutation_p.P573L|PMS1_ENST00000418224.3_Missense_Mutation_p.P573L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	749					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTATTAAATCCATATAGAGTA	0.383000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					31	162					0	0	0.003271	0	0
DAW1	164781	broad.mit.edu	37	2	228750136	228750136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:228750136C>T	ENST00000373666.2	+	2	746	c.110C>T	c.(109-111)cCc>cTc	p.P37L	DAW1_ENST00000545118.1_Missense_Mutation_p.P22L|DAW1_ENST00000309931.2_Missense_Mutation_p.P37L					dynein assembly factor with WDR repeat domains 1																		GATCTTGGTCCCAGGTAAGTA	0.343000													11	48					0	0	0.004007	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648261	74648261	+	Silent	SNP	G	G	A	rs144700840		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:74648261G>A	ENST00000354431.4	-	3	725	c.534C>T	c.(532-534)aaC>aaT	p.N178N	LRRIQ3_ENST00000370909.2_Intron|LRRIQ3_ENST00000395089.1_Silent_p.N178N|LRRIQ3_ENST00000370911.3_Silent_p.N178N	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	178	LRRCT.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAAGTCGATGGTTACATGCTT	0.343000													5	26					0	0	0.001168	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													3	3					0	0	0.004672	0	0
DAB1	1600	broad.mit.edu	37	1	57489283	57489283	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:57489283G>A	ENST00000371236.2	-	11	1079	c.816C>T	c.(814-816)atC>atT	p.I272I	DAB1_ENST00000414851.2_Silent_p.I254I|DAB1_ENST00000371234.4_Silent_p.I272I|DAB1_ENST00000420954.2_Silent_p.I270I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Silent_p.I186I|DAB1_ENST00000371231.1_Silent_p.I305I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	305					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATGAAGATGGGATAAAGGCAT	0.537000													9	25					0	0	0.006214	0	0
VTN	7448	broad.mit.edu	37	17	26694912	26694912	+	Missense_Mutation	SNP	C	C	T	rs112195186		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:26694912C>T	ENST00000226218.4	-	7	1766	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	SEBOX_ENST00000438614.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	383	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GCTGTGGCCTCGTTGTGAACG	0.612000													4	13					0	0	0.000602	0	0
RAI1	10743	broad.mit.edu	37	17	17697372	17697372	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:17697372T>A	ENST00000353383.1	+	3	1579	c.1110T>A	c.(1108-1110)ttT>ttA	p.F370L	RAI1_ENST00000261641.6_Missense_Mutation_p.F370L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	370						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGAGAACTTTCCCTACAGCC	0.652000													17	90					0	0	0.007413	0	0
GEMIN5	25929	broad.mit.edu	37	5	154272026	154272026	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:154272026G>A	ENST00000285873.7	-	25	3756	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1227					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGCCCGAAGGAGCGCCTGCA	0.587000													9	40					0	0	0.004482	0	0
CBLN4	140689	broad.mit.edu	37	20	54575901	54575901	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:54575901G>A	ENST00000064571.2	-	2	1594	c.294C>T	c.(292-294)atC>atT	p.I98I		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	98	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CATTCACCAGGATCTACaaat	0.318000													9	36					0	0	0.006214	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668525	180668525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:180668525C>T	ENST00000512805.1	-	3	804	c.396G>A	c.(394-396)tgG>tgA	p.W132*	GNB2L1_ENST00000376817.4_Nonsense_Mutation_p.W88*|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000511566.1_Nonsense_Mutation_p.W132*|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000456394.2_Nonsense_Mutation_p.W132*	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	132					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CCAGGGTATTCCATAGCTTGA	0.458000													28	119					0	0	0.001786	0	0
PKP4	8502	broad.mit.edu	37	2	159530490	159530490	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:159530490G>A	ENST00000389757.3	+	19	3230	c.3105G>A	c.(3103-3105)caG>caA	p.Q1035Q	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.Q1035Q	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1035					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCAACCAACAGATGTCACCCA	0.473000										HNSCC(62;0.18)			27	104					0	0	0.002096	0	0
ASXL3	80816	broad.mit.edu	37	18	31323901	31323901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:31323901G>A	ENST00000269197.5	+	12	4089	c.4089G>A	c.(4087-4089)atG>atA	p.M1363I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCCCCCAATGGGAATTAACA	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	128					0	0	0.004878	0	0
OR8U1	219417	broad.mit.edu	37	11	56143728	56143728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:56143728C>T	ENST00000302270.1	+	1	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTCATTTCCTCCCTTCTGATT	0.473000													15	77					0	0	0.004007	0	0
KCNH7	90134	broad.mit.edu	37	2	163250955	163250955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:163250955C>T	ENST00000332142.5	-	12	2753	c.2654G>A	c.(2653-2655)gGa>gAa	p.G885E		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	885					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			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)	ACAGTTGTCTCCTTCTGAATC	0.333000													14	69					0	0	0.004990	0	0
ERBB2	2064	broad.mit.edu	37	17	37884091	37884091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:37884091G>A	ENST00000406381.2	+	29	3982	c.3472G>A	c.(3472-3474)Ggg>Agg	p.G1158R	ERBB2_ENST00000584601.1_Missense_Mutation_p.G1158R|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000541774.1_Missense_Mutation_p.G1173R|ERBB2_ENST00000540147.1_Missense_Mutation_p.G1158R|ERBB2_ENST00000445658.2_Missense_Mutation_p.G912R|ERBB2_ENST00000269571.5_Missense_Mutation_p.G1188R	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1188					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G1188W(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TTTTGCCTTTGGGGGTGCCGT	0.632000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			11	55					0	0	0.000978	0	0
HPS4	89781	broad.mit.edu	37	22	26860503	26860503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:26860503C>T	ENST00000398145.2	-	11	1709	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	HPS4_ENST00000336873.5_Missense_Mutation_p.E365K|HPS4_ENST00000402105.3_Missense_Mutation_p.E360K|HPS4_ENST00000398141.1_Missense_Mutation_p.E378K	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	365					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCGAGTTCTTCTTGGAGAAAG	0.537000									Hermansky-Pudlak syndrome				14	89					0	0	0.002450	0	0
NUB1	51667	broad.mit.edu	37	7	151046271	151046271	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:151046271A>G	ENST00000568733.1	+	3	368	c.302A>G	c.(301-303)tAt>tGt	p.Y101C	NUB1_ENST00000355851.4_Missense_Mutation_p.Y77C|NUB1_ENST00000566856.1_Missense_Mutation_p.Y77C|NUB1_ENST00000413040.2_Missense_Mutation_p.Y101C			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	77					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AATGACAATTATAGAACAACG	0.373000													27	129					0	0	0.006320	0	0
FANCA	2175	broad.mit.edu	37	16	89831401	89831401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:89831401G>A	ENST00000389301.3	-	28	2705	c.2675C>T	c.(2674-2676)tCc>tTc	p.S892F	FANCA_ENST00000568369.1_Missense_Mutation_p.S892F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	892					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGTCTCCAGGAAAGGCTGGC	0.532000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	88					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9090790	9090790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:9090790C>T	ENST00000397910.4	-	1	1228	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	342	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GCTTCTGACCCTTTCGGCACT	0.517000													12	54					0	0	0.000978	0	0
GLT1D1	144423	broad.mit.edu	37	12	129360526	129360526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:129360526G>A	ENST00000442111.2	+	2	224	c.136G>A	c.(136-138)Gag>Aag	p.E46K	GLT1D1_ENST00000281703.6_Missense_Mutation_p.E46K|GLT1D1_ENST00000537468.1_Missense_Mutation_p.E35K|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	46					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			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)		AAGCCGATCTGAGATTGCAAA	0.478000													48	154					0	0	0.003610	0	0
LGR5	8549	broad.mit.edu	37	12	71955582	71955582	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:71955582C>T	ENST00000266674.5	+	8	1118	c.807C>T	c.(805-807)atC>atT	p.I269I	LGR5_ENST00000536515.1_Silent_p.I197I|LGR5_ENST00000540815.2_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	269						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCAACAATATCAGGTCGATAC	0.368000													65	309					0	0	0.003610	0	0
SNX29	92017	broad.mit.edu	37	16	12142328	12142328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:12142328C>T	ENST00000566228.1	+	7	668	c.599C>T	c.(598-600)aCg>aTg	p.T200M	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AAGGAGTCAACGCAGAACGTG	0.512000													19	79					0	0	0.001216	0	0
TP63	8626	broad.mit.edu	37	3	189582062	189582062	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:189582062G>A	ENST00000264731.3	+	5	710	c.621G>A	c.(619-621)aaG>aaA	p.K207K	TP63_ENST00000392463.2_Silent_p.K113K|TP63_ENST00000456148.1_Silent_p.K113K|TP63_ENST00000392461.3_Silent_p.K113K|TP63_ENST00000354600.5_Silent_p.K113K|TP63_ENST00000418709.2_Silent_p.K207K|TP63_ENST00000382063.4_Silent_p.K122K|TP63_ENST00000449992.1_Silent_p.K28K|TP63_ENST00000437221.1_Silent_p.K113K|TP63_ENST00000392460.3_Silent_p.K207K|TP63_ENST00000440651.2_Silent_p.K207K|TP63_ENST00000320472.5_Silent_p.K207K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	207					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AAATTGCAAAGACATGCCCCA	0.502000										HNSCC(45;0.13)			25	147					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179449219	179449219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:179449219C>T	ENST00000589042.1	-	311	65283	c.65059G>A	c.(65059-65061)Gga>Aga	p.G21687R	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G19119R|TTN_ENST00000460472.2_Missense_Mutation_p.G12622R|TTN_ENST00000359218.5_Missense_Mutation_p.G12747R|TTN_ENST00000342175.6_Missense_Mutation_p.G12814R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20046R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20046	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCTCCCTCCATCACTATCT	0.448000													12	53					0	0	0.001368	0	0
ZNF230	7773	broad.mit.edu	37	19	44515263	44515263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:44515263C>T	ENST00000429154.2	+	5	1300	c.1072C>T	c.(1072-1074)Cac>Tac	p.H358Y		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCAGCGAATCCACAGTGGAGA	0.443000													17	60					0	0	0.004990	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670545	670545	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:670545C>T	ENST00000266383.5	+	20	2938	c.2925C>T	c.(2923-2925)tcC>tcT	p.S975S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	975						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGCGTCTCTCCCTCAGGAATT	0.612000													6	22					0	0	0.003080	0	0
ABCC12	94160	broad.mit.edu	37	16	48121875	48121875	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:48121875C>T	ENST00000311303.3	-	25	3942	c.3597G>A	c.(3595-3597)gtG>gtA	p.V1199V	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1199	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCTGTGGGATCACAGTCAGCT	0.438000													9	22					0	0	0.006214	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691979	77691979	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:77691979C>T	ENST00000296043.6	+	10	6503	c.5550C>T	c.(5548-5550)tcC>tcT	p.S1850S	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1850	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGCTGCTCTCCCTCTCGGGGC	0.522000													24	104					0	0	0.002780	0	0
GREB1	9687	broad.mit.edu	37	2	11706653	11706653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:11706653G>A	ENST00000381486.2	+	4	625	c.325G>A	c.(325-327)Gag>Aag	p.E109K	GREB1_ENST00000381483.2_Missense_Mutation_p.E109K|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000234142.5_Missense_Mutation_p.E109K|GREB1_ENST00000263834.5_Missense_Mutation_p.E109K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	109						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CATTTCCAACGAGCCCATGGA	0.642000													18	55					0	0	0.007413	0	0
SSX6	280657	broad.mit.edu	37	X	47969935	47969935	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:47969935C>T	ENST00000376932.2	+	3	212	c.138C>T	c.(136-138)atC>atT	p.I46I	SSX6_ENST00000319275.3_5'UTR																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CGGAGAAAATCAGCTGTGTGC	0.408000													16	63					0	0	0.006122	0	0
NPAP1	23742	broad.mit.edu	37	15	24923560	24923560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:24923560G>A	ENST00000329468.2	+	1	3020	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAGTACATCCGATTTTATATG	0.502000													12	48					0	0	0.000978	0	0
LAMA3	3909	broad.mit.edu	37	18	21427576	21427576	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:21427576G>A	ENST00000313654.9	+	32	4321	c.4080G>A	c.(4078-4080)agG>agA	p.R1360R	LAMA3_ENST00000399516.3_Silent_p.R1360R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1360	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTTCCAGGAGGGGCACCA	0.652000													9	33					0	0	0.000673	0	0
OR2W5	441932	broad.mit.edu	37	1	247655180	247655180	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:247655180C>T	ENST00000522351.1	+	0	811							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGTCTCTCTCTTCTACGGAA	0.542000													20	61					0	0	0.007413	0	0
ADH1B	125	broad.mit.edu	37	4	100237204	100237204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:100237204G>A	ENST00000305046.8	-	5	485	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	ADH1B_ENST00000394887.3_Missense_Mutation_p.H100Y			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	140					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCAAGGAAGTGGTGAATGGGC	0.572000													13	58					0	0	0.001368	0	0
PLCH1	23007	broad.mit.edu	37	3	155200026	155200026	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:155200026C>T	ENST00000460012.1	-	23	4056	c.3699G>A	c.(3697-3699)acG>acA	p.T1233T	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.T1271T|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1233T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1271					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T1233T(1)|p.T1271T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTGTGTTCGTTGCATGTT	0.468000													20	150					0	0	0.001523	0	0
TM9SF1	10548	broad.mit.edu	37	14	24662319	24662319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:24662319C>T	ENST00000556387.1	-	7	1162	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	TM9SF1_ENST00000261789.4_Missense_Mutation_p.E168K|TM9SF1_ENST00000528669.1_Missense_Mutation_p.E168K|TM9SF1_ENST00000396854.4_Missense_Mutation_p.E168K|TM9SF1_ENST00000524835.1_Missense_Mutation_p.E81K|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E377K			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	168					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCATGGAATTCTAGGTGGAAG	0.522000													19	58					0	0	0.002299	0	0
NCDN	23154	broad.mit.edu	37	1	36030854	36030854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:36030854G>A	ENST00000373243.2	+	7	2163	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	NCDN_ENST00000373253.3_Missense_Mutation_p.G577R|NCDN_ENST00000356090.4_Missense_Mutation_p.G594R	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	594					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCATCCCGAGGGTTCTTCGC	0.612000											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	105					0	0	0.007291	0	0
USP29	57663	broad.mit.edu	37	19	57640915	57640915	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:57640915G>A	ENST00000254181.4	+	4	1326	c.872G>A	c.(871-873)gGa>gAa	p.G291E	USP29_ENST00000598197.1_Missense_Mutation_p.G291E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	291					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAATTTGGGAAACACCTGT	0.473000													11	29					0	0	0.000673	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64641303	64641303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:64641303G>A	ENST00000498707.1	-	6	1460	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.S373L|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S345L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	373	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACTGTTCTTCGAATGCTGCCA	0.378000													84	383					0	0	0.003610	0	0
NUP205	23165	broad.mit.edu	37	7	135328088	135328088	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:135328088C>T	ENST00000285968.6	+	39	5567	c.5541C>T	c.(5539-5541)ccC>ccT	p.P1847P		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1847					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCAGCTTCCCCCAGATGAGA	0.423000													7	40					0	0	0.001984	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317232	30317232	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:30317232C>T	ENST00000375377.1	-	3	1946	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	615										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GAGCCGGGCTCTTATCAGACC	0.498000													12	70					0	0	0.000978	0	0
MROH2B	133558	broad.mit.edu	37	5	41039565	41039565	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:41039565G>A	ENST00000399564.4	-	20	2496	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	MROH2B_ENST00000506092.2_Silent_p.F237F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATCGATTCATGAAAAACTTTT	0.323000													4	12					0	0	0.000248	0	0
OR52E4	390081	broad.mit.edu	37	11	5905803	5905803	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:5905803T>G	ENST00000316987.2	+	1	303	c.281T>G	c.(280-282)aTc>aGc	p.I94S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCAAGAGATCAGCTTTGGG	0.458000													20	90					0	0	0.007413	0	0
SPIB	6689	broad.mit.edu	37	19	50926861	50926861	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:50926861G>A	ENST00000595883.1	+	5	364		c.e5-1		SPIB_ENST00000439922.2_Splice_Site|SPIB_ENST00000270632.7_Splice_Site|SPIB_ENST00000597855.1_Intron|SPIB_ENST00000596074.1_Splice_Site	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)						regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCTTCCGCAGACCCTGGTTC	0.647000													5	29					0	0	0.001168	0	0
ATP13A5	344905	broad.mit.edu	37	3	193051540	193051540	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:193051540C>T	ENST00000342358.4	-	11	1388	c.1272_splice	c.e11+1	p.G424_splice		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	424					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGTACTTACTCCATGGTACAT	0.428000													10	76					0	0	0.006214	0	0
CHD6	84181	broad.mit.edu	37	20	40120436	40120436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:40120436C>T	ENST00000373233.3	-	11	1515	c.1338G>A	c.(1336-1338)tgG>tgA	p.W446*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.W446*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	446					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAAGTTTCTGCCAGGAGTCTG	0.458000													20	114					0	0	0.003330	0	0
C10orf118	55088	broad.mit.edu	37	10	115922739	115922739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:115922739G>A	ENST00000369287.3	-	2	555	c.289C>T	c.(289-291)Cct>Tct	p.P97S	C10orf118_ENST00000369285.3_Missense_Mutation_p.P97S|C10orf118_ENST00000369286.1_Missense_Mutation_p.P97S	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	97										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTTCCACTAGGAAAATTAGCT	0.348000													14	79					0	0	0.001855	0	0
MIR520F	574464	broad.mit.edu	37	19	54185498	54185498	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:54185498G>A	ENST00000384824.1	+	0	86					NR_030186.1																						TACCGTTTGGGAAAAGCAATG	0.443000													6	29					0	0	0.001168	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135095761	135095761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:135095761G>A	ENST00000368563.2	-	16	2731	c.2375C>T	c.(2374-2376)gCc>gTc	p.A792V	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A820V|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.A792V|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.A385V|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A662V	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	792					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CCGCTCCTCGGCCCCTGCGGG	0.667000													4	17					0	0	0.000602	0	0
KRT26	353288	broad.mit.edu	37	17	38926572	38926572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:38926572G>A	ENST00000335552.4	-	3	662	c.614C>T	c.(613-615)aCc>aTc	p.T205I		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	205	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCCAGGTCGGTTGTACAAAG	0.483000													13	102					0	0	0.001855	0	0
GRIK5	2901	broad.mit.edu	37	19	42563509	42563509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:42563509G>A	ENST00000262895.3	-	5	678	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	GRIK5_ENST00000301218.4_Missense_Mutation_p.L227F|GRIK5_ENST00000593562.1_Missense_Mutation_p.L227F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	227						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ACCTTACGGAGGATGAGGTGG	0.597000													12	70					0	0	0.004007	0	0
PHF1	5252	broad.mit.edu	37	6	33380097	33380097	+	Silent	SNP	T	T	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33380097T>G	ENST00000374516.3	+	2	328	c.57T>G	c.(55-57)gcT>gcG	p.A19A	PHF1_ENST00000374512.3_Silent_p.A19A|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	19					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGGACCCAGCTTCTCCTGCTC	0.612000													12	51					0	0	0.001855	0	0
BCL11A	53335	broad.mit.edu	37	2	60687571	60687571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:60687571G>A	ENST00000335712.6	-	4	2703	c.2476C>T	c.(2476-2478)Cga>Tga	p.R826*	BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Nonsense_Mutation_p.R792*	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	826					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTCAACACTCGATCACTGTGC	0.443000			T	IGH@	B-CLL								119	440					0	0	0.003610	0	0
KLHL15	80311	broad.mit.edu	37	X	24006085	24006085	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:24006085G>A	ENST00000328046.8	-	4	2023	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	590										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GGAAAATGCAGGTTGCATACT	0.458000													19	31					0	0	0.001523	0	0
ECD	11319	broad.mit.edu	37	10	74899442	74899442	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:74899442G>C	ENST00000372979.4	-	10	1387	c.1181C>G	c.(1180-1182)cCa>cGa	p.P394R	ECD_ENST00000454759.1_Missense_Mutation_p.P351R|ECD_ENST00000430082.1_Missense_Mutation_p.P427R	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	394					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TATATCAAATGGTATTGTCTG	0.343000													46	228					0	0	0.003214	0	0
ATP5H	10476	broad.mit.edu	37	17	73035134	73035134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:73035134G>A	ENST00000301587.4	-	6	426	c.379C>T	c.(379-381)Cca>Tca	p.P127S	KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_Missense_Mutation_p.P103S|KCTD2_ENST00000581589.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	127					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					TGATCAAATGGAATTAAGTTC	0.408000													12	67					0	0	0.001368	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278128	89278128	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:89278128G>A	ENST00000390247.2	-	0	303																											ATGCACCATAGATGAGGAGCC	0.587000													26	65					0	0	0.004656	0	0
MXRA5	25878	broad.mit.edu	37	X	3242045	3242045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:3242045C>T	ENST00000217939.6	-	5	1835	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	561	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCATTTCATCCCTCACTTGA	0.532000													4	7					0	0	0.000248	0	0
LY9	4063	broad.mit.edu	37	1	160793254	160793254	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:160793254G>A	ENST00000263285.5	+	8	1528		c.e8-1		LY9_ENST00000368041.2_Splice_Site|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000368035.1_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTGTTCCAGAACCCACAGC	0.557000													7	18					0	0	0.003080	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766199	19766199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19766199G>A	ENST00000357324.6	-	11	1486	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Missense_Mutation_p.S369L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	487					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGGCACGACCGAGGTGAGGAT	0.627000													5	31					0	0	0.000602	0	0
CTBP1	1487	broad.mit.edu	37	4	1208229	1208229	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:1208229G>A	ENST00000382952.3	-	7	1146	c.762C>T	c.(760-762)gcC>gcT	p.A254A	CTBP1_ENST00000290921.6_Silent_p.A265A	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	265					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGCCACCCCGGGCTGTGTTCA	0.662000													3	14					0	0	0.004672	0	0
EFEMP2	30008	broad.mit.edu	37	11	65634494	65634494	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:65634494C>T	ENST00000307998.6	-	11	1457	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	EFEMP2_ENST00000528176.1_Intron|EFEMP2_ENST00000532648.1_5'UTR|MUS81_ENST00000525006.1_Intron	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	409					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCACGTACTCCCGGGGGCCCG	0.607000													9	45					0	0	0.000673	0	0
MAGI1	9223	broad.mit.edu	37	3	65479297	65479297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:65479297C>T	ENST00000330909.8	-	3	439	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	MAGI1_ENST00000497477.2_Missense_Mutation_p.R147Q|MAGI1_ENST00000402939.2_Missense_Mutation_p.R147Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.R147Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	147	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCTGGGAGATCGGGTTGTGCC	0.463000													13	40					0	0	0.001368	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554611	140554611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140554611G>A	ENST00000231137.3	+	1	2369	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		732					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTTTCCACGACATCTGGTG	0.637000													26	278					0	0	0.004656	0	0
CFTR	1080	broad.mit.edu	37	7	117180347	117180347	+	Missense_Mutation	SNP	C	C	T	rs144720913		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:117180347C>T	ENST00000003084.6	+	8	1195	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	CFTR_ENST00000454343.1_Missense_Mutation_p.P355S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	355	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.P355S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCGGCAATTTCCCTGGGCTGT	0.403000									Cystic Fibrosis				17	93					0	0	0.004007	0	0
C10orf35	219738	broad.mit.edu	37	10	71391546	71391546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:71391546C>T	ENST00000373279.4	+	3	206	c.47C>T	c.(46-48)cCc>cTc	p.P16L	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	16						integral to membrane		p.P16L(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GATGACGACCCCCGAGTGAGG	0.597000													5	24					0	0	0.001984	0	0
AP1M2	10053	broad.mit.edu	37	19	10690440	10690440	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:10690440G>A	ENST00000590923.1	-	7	857	c.774C>T	c.(772-774)atC>atT	p.I258I	AP1M2_ENST00000250244.6_Silent_p.I256I			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	256	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CATCAGGCGGGATGAAGGAGA	0.557000													24	96					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179664334	179664334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:179664334G>A	ENST00000589042.1	-	6	1018	c.794C>T	c.(793-795)tCc>tTc	p.S265F	TTN_ENST00000342992.6_Missense_Mutation_p.S265F|TTN_ENST00000460472.2_Missense_Mutation_p.S265F|TTN_ENST00000359218.5_Missense_Mutation_p.S265F|TTN_ENST00000342175.6_Missense_Mutation_p.S265F|TTN_ENST00000360870.5_Missense_Mutation_p.S265F|TTN_ENST00000591111.1_Missense_Mutation_p.S265F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	265	ZIS1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTTGGGGATCTTGACTT	0.562000													14	74					0	0	0.004007	0	0
FARSB	10056	broad.mit.edu	37	2	223464667	223464667	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:223464667T>A	ENST00000281828.6	-	16	1861	c.1598A>T	c.(1597-1599)tAt>tTt	p.Y533F	FARSB_ENST00000536361.1_Missense_Mutation_p.Y434F	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	533					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTTGATCACATATCCCCCCTT	0.448000													22	119					0	0	0.004656	0	0
VWCE	220001	broad.mit.edu	37	11	61048165	61048165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:61048165C>T	ENST00000335613.5	-	9	1641	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	419	VWFC 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCACACCTCACCTTTTCACAG	0.587000													5	38					0	0	0.000602	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250023	37250023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:37250023C>T	ENST00000373491.3	+	4	630	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	162						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCCCATCATCCCCCTCGTTGC	0.542000													9	49					0	0	0.004482	0	0
TIGD3	220359	broad.mit.edu	37	11	65124431	65124431	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:65124431C>T	ENST00000309880.5	+	2	1359	c.1152C>T	c.(1150-1152)ccC>ccT	p.P384P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	384					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CACCAGTCCCCGGCGGGCTGA	0.582000													20	70					0	0	0.001216	0	0
WDR46	9277	broad.mit.edu	37	6	33247142	33247142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:33247142G>A	ENST00000374617.4	-	15	2100	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	582										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						AGGCTCTGCCGGACCTTGTCC	0.642000													21	90					0	0	0.001523	0	0
LTBP1	4052	broad.mit.edu	37	2	33589288	33589288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:33589288G>A	ENST00000404816.2	+	30	4758	c.4405G>A	c.(4405-4407)Gat>Aat	p.D1469N	LTBP1_ENST00000402934.1_Missense_Mutation_p.D1088N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D1144N|LTBP1_ENST00000418533.2_Missense_Mutation_p.D1101N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D1143N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1470N|LTBP1_ENST00000272273.5_Missense_Mutation_p.D367N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D1090N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1469	EGF-like 16; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTAAGATATGGATGAATGTCA	0.403000													11	66					0	0	0.002450	0	0
TRIM26	7726	broad.mit.edu	37	6	30164463	30164463	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:30164463G>A	ENST00000454678.2	-	6	1031	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	TRIM26_ENST00000437089.1_Silent_p.L199L|TRIM26_ENST00000453195.1_Silent_p.L199L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	199							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CGCTCCCTCAGGAACTGATGA	0.622000													7	24					0	0	0.006214	0	0
RPE65	6121	broad.mit.edu	37	1	68905297	68905297	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:68905297C>T	ENST00000262340.5	-	7	725	c.672G>A	c.(670-672)gaG>gaA	p.E224E		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	224					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GTACAACGATCTCTGACTTGC	0.363000													16	61					0	0	0.001216	0	0
AKAP6	9472	broad.mit.edu	37	14	33014795	33014795	+	Silent	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:33014795T>A	ENST00000280979.4	+	4	1106	c.936T>A	c.(934-936)gcT>gcA	p.A312A	AKAP6_ENST00000557354.1_Silent_p.A312A|AKAP6_ENST00000557272.1_Silent_p.A312A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	312					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGACAATGCTTCTGCAGTCG	0.493000													15	59					0	0	0.003163	0	0
GLYR1	84656	broad.mit.edu	37	16	4873863	4873863	+	Missense_Mutation	SNP	C	C	T	rs142231403		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:4873863C>T	ENST00000321919.9	-	6	659	c.583G>A	c.(583-585)Gga>Aga	p.G195R	GLYR1_ENST00000591451.1_Missense_Mutation_p.G195R|GLYR1_ENST00000381983.3_Missense_Mutation_p.G195R|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000436648.5_Missense_Mutation_p.G114R	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	195					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GCCATCGGTCCGGCCATCATC	0.552000													32	155					0	0	0.002836	0	0
GREB1	9687	broad.mit.edu	37	2	11772080	11772080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:11772080C>T	ENST00000381486.2	+	27	4957	c.4657C>T	c.(4657-4659)Cgt>Tgt	p.R1553C	GREB1_ENST00000234142.5_Missense_Mutation_p.R1553C|GREB1_ENST00000396123.1_Missense_Mutation_p.R551C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1553						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AACCACCGGCCGTCACGAACA	0.443000													12	66					0	0	0.001368	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:145038046C>T	ENST00000360771.4	-	5	433	c.318G>A	c.(316-318)acG>acA	p.T106T	RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000324022.10_Silent_p.T73T|GYPA_ENST00000504786.1_Silent_p.T74T|GYPA_ENST00000512064.1_Silent_p.T93T|GYPB_ENST00000283126.7_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000													35	162					0	0	0.004878	0	0
CDH24	64403	broad.mit.edu	37	14	23517672	23517672	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:23517672G>A	ENST00000397359.3	-	13	2236	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F	CDH24_ENST00000554034.1_Silent_p.F621F|CDH24_ENST00000487137.2_Silent_p.F621F|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Silent_p.F659F	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	659					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCAGGGCCACGAAGAGCACCA	0.667000													10	58					0	0	0.001368	0	0
GAP43	2596	broad.mit.edu	37	3	115439675	115439675	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:115439675C>T	ENST00000393780.3	+	4	1239	c.771C>T	c.(769-771)gcC>gcT	p.A257A	GAP43_ENST00000305124.6_Silent_p.A221A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	221					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGGAAAGTGCCCGGCAGGACG	0.473000													26	203					0	0	0.001512	0	0
FSD2	123722	broad.mit.edu	37	15	83447578	83447578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:83447578C>T	ENST00000334574.8	-	6	1232	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	FSD2_ENST00000541889.1_Missense_Mutation_p.D351N			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	351										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AAGGTCTGGTCTTCAAACTCA	0.478000													27	18					0	0	0.006320	0	0
STK10	6793	broad.mit.edu	37	5	171491790	171491790	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:171491790G>A	ENST00000176763.5	-	13	2359	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	672							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGCTGTCGGGGGAGCTTCT	0.567000													13	65					0	0	0.004007	0	0
DCST2	127579	broad.mit.edu	37	1	155005658	155005658	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:155005658G>A	ENST00000368424.3	-	2	409	c.351C>T	c.(349-351)acC>acT	p.T117T	DCST2_ENST00000295536.5_Silent_p.T117T	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	117						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCTGGCCCGGGTGAAGTTGC	0.617000													6	20					0	0	0.001168	0	0
TP63	8626	broad.mit.edu	37	3	189526134	189526134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:189526134C>T	ENST00000264731.3	+	4	487	c.398C>T	c.(397-399)cCc>cTc	p.P133L	TP63_ENST00000392463.2_Missense_Mutation_p.P39L|TP63_ENST00000456148.1_Missense_Mutation_p.P39L|TP63_ENST00000392461.3_Missense_Mutation_p.P39L|TP63_ENST00000354600.5_Missense_Mutation_p.P39L|TP63_ENST00000418709.2_Missense_Mutation_p.P133L|TP63_ENST00000382063.4_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.P39L|TP63_ENST00000392460.3_Missense_Mutation_p.P133L|TP63_ENST00000440651.2_Missense_Mutation_p.P133L|TP63_ENST00000320472.5_Missense_Mutation_p.P133L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	133					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCCACCAGTCCCTATAACACA	0.607000										HNSCC(45;0.13)			14	52					0	0	0.001855	0	0
GNPTAB	79158	broad.mit.edu	37	12	102174052	102174052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:102174052C>T	ENST00000299314.7	-	7	911	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	GNPTAB_ENST00000549940.1_Missense_Mutation_p.E217K	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	217					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCAGGGACTTCTTTATCTGTT	0.368000													10	48					0	0	0.000978	0	0
C10orf137	26098	broad.mit.edu	37	10	127412404	127412404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:127412404C>T	ENST00000337623.3	+	4	514	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	C10orf137_ENST00000356792.4_Missense_Mutation_p.P137S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCTGAAAATTCCCTACAGCAA	0.343000													9	114					0	0	0.000978	0	0
GABRP	2568	broad.mit.edu	37	5	170232826	170232826	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:170232826C>T	ENST00000518525.1	+	8	1112	c.648C>T	c.(646-648)ttC>ttT	p.F216F	GABRP_ENST00000265294.4_Silent_p.F216F|GABRP_ENST00000519385.1_Silent_p.F216F|GABRP_ENST00000519598.1_Silent_p.F216F			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	216						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCGGTATTTCACCTTAGTCA	0.478000													9	40					0	0	0.004482	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26094577	26094577	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:26094577C>T	ENST00000478176.1	-	0	87					NR_003678.1																						TGACTTTGTTCTGTGCTGAAT	0.418000													5	14					0	0	0.001984	0	0
URB2	9816	broad.mit.edu	37	1	229772137	229772137	+	Missense_Mutation	SNP	C	C	G	rs147789751	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:229772137C>G	ENST00000258243.2	+	4	1913	c.1777C>G	c.(1777-1779)Cca>Gca	p.P593A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	593						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACCCCAGGCCCAGAGCCAGA	0.597000													18	115					0	0	0.004990	0	0
PSMD12	5718	broad.mit.edu	37	17	65341909	65341909	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:65341909A>G	ENST00000356126.3	-	8	967	c.860T>C	c.(859-861)gTt>gCt	p.V287A	PSMD12_ENST00000357146.4_Missense_Mutation_p.V267A	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	287	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TATTCGGTGAACCAAATCTGA	0.358000													26	39					0	0	0.002445	0	0
OR5M1	390168	broad.mit.edu	37	11	56380166	56380166	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:56380166G>A	ENST00000526538.1	-	1	812	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CAGTTATTTTGGACTCCTCTA	0.423000													47	146					0	0	0.003214	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599068	136599068	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:136599068G>A	ENST00000531224.1	-	4	1203	c.951C>T	c.(949-951)ggC>ggT	p.G317G	BCLAF1_ENST00000392348.2_Silent_p.G315G|BCLAF1_ENST00000530767.1_Silent_p.G317G|BCLAF1_ENST00000353331.4_Silent_p.G315G|BCLAF1_ENST00000527759.1_Silent_p.G315G|BCLAF1_ENST00000527536.1_Silent_p.G317G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	317					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACGAGGAACGGCCCCTAGACT	0.408000													6	107					0	0	0.001984	0	0
GABRG3	2567	broad.mit.edu	37	15	27574022	27574022	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:27574022G>A	ENST00000333743.6	+	5	815	c.561G>A	c.(559-561)ctG>ctA	p.L187L	GABRG3_ENST00000555083.1_Silent_p.L187L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	187					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCTGCCCGCTGATTTTCTCCA	0.542000													11	15					0	0	0.001368	0	0
AGL	178	broad.mit.edu	37	1	100346996	100346996	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:100346996T>A	ENST00000294724.4	+	16	2628	c.2150T>A	c.(2149-2151)tTt>tAt	p.F717Y	AGL_ENST00000370165.3_Missense_Mutation_p.F717Y|AGL_ENST00000370163.3_Missense_Mutation_p.F717Y|AGL_ENST00000370161.2_Missense_Mutation_p.F701Y|AGL_ENST00000361522.4_Missense_Mutation_p.F700Y|AGL_ENST00000361302.3_Missense_Mutation_p.F701Y|AGL_ENST00000361915.3_Missense_Mutation_p.F717Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	717					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GCCAAGGGTTTTATTCAGGCA	0.393000													16	87					0	0	0.004007	0	0
NF1	4763	broad.mit.edu	37	17	29486063	29486063	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:29486063T>A	ENST00000358273.4	+	3	623	c.240T>A	c.(238-240)taT>taA	p.Y80*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y80*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Y80*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	80			Y -> C.|Y -> S (in dbSNP:rs4795581).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTTATATCTCTCTCAGT	0.328000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	32					0	0	0.006214	0	0
ANKRD29	147463	broad.mit.edu	37	18	21197718	21197718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:21197718G>A	ENST00000592179.1	-	8	855	c.701C>T	c.(700-702)tCa>tTa	p.S234L	ANKRD29_ENST00000322980.9_Missense_Mutation_p.S234L|ANKRD29_ENST00000284207.7_Missense_Mutation_p.S234L	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	234										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGAGTGGGTGAGAATTTAAG	0.358000													9	39					0	0	0.000673	0	0
MTMR3	8897	broad.mit.edu	37	22	30414048	30414048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:30414048C>T	ENST00000333027.3	+	16	2135	c.1807C>T	c.(1807-1809)Ccc>Tcc	p.P603S	MTMR3_ENST00000406629.1_Missense_Mutation_p.P603S|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.P467S|MTMR3_ENST00000351488.3_Missense_Mutation_p.P603S|MTMR3_ENST00000401950.2_Missense_Mutation_p.P603S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	603					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCTGATGATCCCCCCCTGAG	0.627000													15	35					0	0	0.004007	0	0
LZTS2	84445	broad.mit.edu	37	10	102762458	102762458	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:102762458T>A	ENST00000370220.1	+	1	3226	c.163T>A	c.(163-165)Ttc>Atc	p.F55I	LZTS2_ENST00000370223.3_Missense_Mutation_p.F55I			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	55	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TGGGCCCACCTTCTTCCGCCA	0.672000													7	43					0	0	0.003080	0	0
BPTF	2186	broad.mit.edu	37	17	65889738	65889738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:65889738C>T	ENST00000321892.4	+	8	2747	c.2686C>T	c.(2686-2688)Cat>Tat	p.H896Y	BPTF_ENST00000424123.3_Missense_Mutation_p.H757Y|BPTF_ENST00000306378.6_Missense_Mutation_p.H770Y|BPTF_ENST00000335221.5_Missense_Mutation_p.H896Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	896	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGGTTCTGTCCATGGGTCCAA	0.443000													35	64					0	0	0.003214	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250357	140250357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140250357G>A	ENST00000398640.2	+	1	1669	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.677000													36	135					0	0	0.004878	0	0
UMODL1	89766	broad.mit.edu	37	21	43547937	43547937	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:43547937A>G	ENST00000400427.1	+	19	4250	c.3854A>G	c.(3853-3855)aAa>aGa	p.K1285R	UMODL1_ENST00000408910.2_Missense_Mutation_p.K1229R|UMODL1_ENST00000408989.2_Missense_Mutation_p.K1357R|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Missense_Mutation_p.K1157R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1229						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACGTGCAAAATCGTAAGT	0.473000													9	67					0	0	0.004482	0	0
PRRC2C	23215	broad.mit.edu	37	1	171557584	171557584	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:171557584C>T	ENST00000367742.3	+	33	8381	c.8139C>T	c.(8137-8139)ttC>ttT	p.F2713F	PRRC2C_ENST00000338920.4_Silent_p.F2711F|PRRC2C_ENST00000392078.3_Silent_p.F2713F|PRRC2C_ENST00000426496.2_Silent_p.F2646F			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2711							protein C-terminus binding										AGAAGCAGTTCCAGTCAGCCC	0.433000													13	44					0	0	0.001368	0	0
MYH15	22989	broad.mit.edu	37	3	108110668	108110668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:108110668G>A	ENST00000273353.3	-	38	5485	c.5429C>T	c.(5428-5430)gCt>gTt	p.A1810V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1810						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCAGCTTCAGCCAGCCTTTT	0.463000													33	139					0	0	0.003755	0	0
CHD6	84181	broad.mit.edu	37	20	40120437	40120437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:40120437C>T	ENST00000373233.3	-	11	1514	c.1337G>A	c.(1336-1338)tGg>tAg	p.W446*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.W446*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	446					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAGTTTCTGCCAGGAGTCTGA	0.463000													20	113					0	0	0.003330	0	0
CXCR6	10663	broad.mit.edu	37	3	45988911	45988911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:45988911G>A	ENST00000458629.1	+	1	2401	c.938G>A	c.(937-939)gGg>gAg	p.G313E	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.G313E|CXCR6_ENST00000457814.1_Missense_Mutation_p.G313E|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.G313E			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	313					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCTTACCTTGGGGTCTCACAT	0.488000													18	61					0	0	0.001216	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420656	105420656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:105420656C>T	ENST00000333244.5	-	7	1251	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	378						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTCTCCTCTCTCCTGCTG	0.632000													15	58					0	0	0.004007	0	0
MGAT5B	146664	broad.mit.edu	37	17	74899435	74899435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:74899435C>T	ENST00000569840.2	+	5	1070	c.496C>T	c.(496-498)Cct>Tct	p.P166S	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P177S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.P166S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	166						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCAAGTTCCCTGACTGCTC	0.647000													31	41					0	0	0.002445	0	0
KCNB2	9312	broad.mit.edu	37	8	73480030	73480030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:73480030C>T	ENST00000523207.1	+	2	649	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	21					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTTCCCTTCCTCCAGAGCC	0.522000													14	70					0	0	0.001855	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6080809	6080809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:6080809G>A	ENST00000199389.6	-	9	979	c.833C>T	c.(832-834)tCc>tTc	p.S278F	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.S154F|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	278	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAGATAATGGATGAGCTGCT	0.388000													18	116					0	0	0.001216	0	0
MICA	100507436	broad.mit.edu	37	6	31378342	31378342	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:31378342C>T	ENST00000449934.2	+	2	147	c.93C>T	c.(91-93)aaC>aaT	p.N31N	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	31					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TTCGTTATAACCTCACGGTGC	0.498000													4	25					0	0	0.000248	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725627	106725627	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:106725627G>A	ENST00000390609.2	-	0	106																											ATAGCCACAAGAAAAAGCCAG	0.438000													10	129					0	0	0.001855	0	0
C10orf118	55088	broad.mit.edu	37	10	115922738	115922738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:115922738G>A	ENST00000369287.3	-	2	556	c.290C>T	c.(289-291)cCt>cTt	p.P97L	C10orf118_ENST00000369285.3_Missense_Mutation_p.P97L|C10orf118_ENST00000369286.1_Missense_Mutation_p.P97L	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	97										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ATTTCCACTAGGAAAATTAGC	0.348000													13	81					0	0	0.001368	0	0
LILRP2	79166	broad.mit.edu	37	19	55224690	55224690	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:55224690G>A	ENST00000413439.1	+	0	1862																											GCTGCTTTAGGATTGGCACAG	0.542000													5	15					0	0	0.000602	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643849	121643849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:121643849C>T	ENST00000489711.1	+	13	1481	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.R334C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	365					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTCATTTATCGTCTGGTCTC	0.368000													28	159					0	0	0.001512	0	0
ZNF14	7561	broad.mit.edu	37	19	19825193	19825193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19825193G>A	ENST00000344099.3	-	2	245	c.107C>T	c.(106-108)aCc>aTc	p.T36I		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTTTTTGAAGGTCTCCTGCAT	0.433000													17	60					0	0	0.004007	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626478	1626478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:1626478G>A	ENST00000421627.2	+	9	2281	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	795					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.G724V(1)|p.G760V(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGGACAAAGGCCTTCAGTTC	0.612000													13	38					0	0	0.001855	0	0
FSIP2	401024	broad.mit.edu	37	2	186673305	186673305	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:186673305C>T	ENST00000343098.5	+	17	19539	c.19539C>T	c.(19537-19539)tcC>tcT	p.S6513S	FSIP2_ENST00000424728.1_Silent_p.S6424S	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTGTCGATTCCGTTTATAGTA	0.323000													11	31					0	0	0.000978	0	0
WDR20	91833	broad.mit.edu	37	14	102675407	102675407	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:102675407C>T	ENST00000335263.5	+	3	980	c.900C>T	c.(898-900)ggC>ggT	p.G300G	WDR20_ENST00000556807.1_Silent_p.G239G|WDR20_ENST00000545563.1_Silent_p.G127G|WDR20_ENST00000499851.2_Silent_p.G43G|WDR20_ENST00000454394.2_Silent_p.G331G|WDR20_ENST00000424963.2_Silent_p.G176G|WDR20_ENST00000342702.3_Silent_p.G300G|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556511.2_Silent_p.G239G	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	300										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TAGCCAGAGGCCACGGGCACA	0.542000													7	43					0	0	0.003080	0	0
AADACL2	344752	broad.mit.edu	37	3	151474812	151474812	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:151474812C>G	ENST00000356517.3	+	5	745	c.636C>G	c.(634-636)atC>atG	p.I212M	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	212						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AACATAAAATCAAGATGCAAG	0.328000													18	50					0	0	0.001216	0	0
ZFP42	132625	broad.mit.edu	37	4	188924380	188924380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:188924380C>T	ENST00000326866.4	+	4	827	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ZFP42_ENST00000509524.1_Missense_Mutation_p.S140L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	140					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAGAGAATTCGCTTGAGTAT	0.423000													16	96					0	0	0.004007	0	0
SCN5A	6331	broad.mit.edu	37	3	38622716	38622716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:38622716C>T	ENST00000413689.1	-	17	3127	c.2934G>A	c.(2932-2934)tgG>tgA	p.W978*	SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W978*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W978*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W978*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W978*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W978*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W978*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W978*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W978*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W978*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGCAGAAATCCCAGGTGGTCC	0.662000													5	9					0	0	0.000602	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596261	6596261	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:6596261G>A	ENST00000285599.3	+	7	895	c.858_splice	c.e7-1	p.G287_splice	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	287					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTCCCTGCAGGGATGTGACAA	0.637000													6	30					0	0	0.001984	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470460	470460	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:470460C>T	ENST00000217244.3	-	10	1062	c.687G>A	c.(685-687)aaG>aaA	p.K229K	CSNK2A1_ENST00000400227.3_Silent_p.K229K|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400217.1_Silent_p.K93K|CSNK2A1_ENST00000349736.5_Silent_p.K229K	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	229	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AAAATGGCTCCTTCCGAAAGA	0.378000													7	44					0	0	0.000673	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655216	138655216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:138655216G>A	ENST00000251691.4	+	33	5399	c.5233G>A	c.(5233-5235)Gaa>Aaa	p.E1745K		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1745					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCTGGAGAGGAAAAGACGAT	0.478000													7	38					0	0	0.003080	0	0
MRPL41	64975	broad.mit.edu	37	9	140446788	140446788	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:140446788C>T	ENST00000371443.5	+	2	1043	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	85					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		AGGAGACGCCCCTGACGGCCG	0.612000													7	22					0	0	0.001984	0	0
ZMYND12	84217	broad.mit.edu	37	1	42905608	42905608	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:42905608G>A	ENST00000372565.3	-	4	782	c.513C>T	c.(511-513)caC>caT	p.H171H	ZMYND12_ENST00000433602.2_Silent_p.H61H	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	171						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGTAAAGAGTGGGTGGCAT	0.443000													26	88					0	0	0.007291	0	0
MYH2	4620	broad.mit.edu	37	17	10442879	10442879	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10442879A>G	ENST00000245503.5	-	13	1532	c.1147_splice	c.e13-1	p.V383_splice	MYH2_ENST00000532183.1_Splice_Site_p.V383_splice|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Splice_Site_p.V383_splice	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	383	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTGTCAGCAACTAAAAAGAA	0.413000													10	67					0	0	0.006214	0	0
ANK1	286	broad.mit.edu	37	8	41584783	41584783	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:41584783C>T	ENST00000396942.1	-	5	494	c.411G>A	c.(409-411)caG>caA	p.Q137Q	ANK1_ENST00000265709.8_Silent_p.Q170Q|ANK1_ENST00000352337.4_Silent_p.Q137Q|ANK1_ENST00000396945.1_Silent_p.Q137Q|ANK1_ENST00000379758.2_Silent_p.Q137Q|ANK1_ENST00000289734.7_Silent_p.Q137Q|ANK1_ENST00000347528.4_Silent_p.Q137Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	137	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCTACATTCTGGTTAGCTC	0.463000													11	42					0	0	0.000978	0	0
CWH43	80157	broad.mit.edu	37	4	49063906	49063906	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:49063906G>A	ENST00000226432.4	+	16	2282	c.2099G>A	c.(2098-2100)tGa>tAa	p.*700*	CWH43_ENST00000513409.1_Silent_p.*673*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	0					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TACTTTTTATGAAACATTTAA	0.254000													6	19					0	0	0.001984	0	0
INF2	64423	broad.mit.edu	37	14	105174326	105174326	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:105174326C>T	ENST00000392634.4	+	8	1834	c.1722C>T	c.(1720-1722)tcC>tcT	p.S574S	INF2_ENST00000330634.7_Silent_p.S574S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	574	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGCTGCCATCCAACGTGGCAC	0.642000													7	35					0	0	0.001984	0	0
TULP4	56995	broad.mit.edu	37	6	158923850	158923850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:158923850C>T	ENST00000367097.3	+	13	4512	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1052					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCGGAGCCTCCCTGGCCCAT	0.716000													13	20					0	0	0.002450	0	0
DOCK2	1794	broad.mit.edu	37	5	169454876	169454876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:169454876G>A	ENST00000256935.8	+	34	3471	c.3391G>A	c.(3391-3393)Gaa>Aaa	p.E1131K	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.E623K|DOCK2_ENST00000540750.1_Missense_Mutation_p.E192K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1131	DHR-2.|Interaction with CRKL.				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			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)			GTTTGAAAACGAAATCATCCT	0.453000													21	75					0	0	0.002299	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369409	19369409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:19369409C>T	ENST00000291481.7	-	4	803	c.740G>A	c.(739-741)gGg>gAg	p.G247E	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	247	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCGCAGGCCCCCGTTGGCATC	0.697000													11	34					0	0	0.000673	0	0
ANO4	121601	broad.mit.edu	37	12	101510530	101510530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:101510530G>A	ENST00000392979.3	+	24	2780	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	ANO4_ENST00000299222.9_Missense_Mutation_p.E362K|ANO4_ENST00000392977.3_Missense_Mutation_p.E842K|ANO4_ENST00000550015.1_Missense_Mutation_p.E362K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	842						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCTGAGCCTGAATCTGATGG	0.527000										HNSCC(74;0.22)			19	83					0	0	0.001216	0	0
EYA2	2139	broad.mit.edu	37	20	45633718	45633718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:45633718C>T	ENST00000327619.5	+	4	667	c.293C>T	c.(292-294)tCc>tTc	p.S98F	EYA2_ENST00000357410.3_Missense_Mutation_p.S98F|EYA2_ENST00000317304.6_Missense_Mutation_p.S98F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	98					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGAATCCCTTCCTACAGTGAG	0.512000													18	71					0	0	0.007413	0	0
SLC8A3	6547	broad.mit.edu	37	14	70530586	70530586	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:70530586G>A	ENST00000357887.3	-	3	2598	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000528359.1_Silent_p.F615F|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000534137.1_Intron	NM_033262.3	NP_150287.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	615	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCTCAATGAAGTAATTCT	0.398000													21	61					0	0	0.001523	0	0
LRFN1	57622	broad.mit.edu	37	19	39799143	39799143	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:39799143G>C	ENST00000248668.4	-	2	1445	c.1446C>G	c.(1444-1446)gaC>gaG	p.D482E		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	482	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGCCGCCAGGTCATTCACCA	0.657000													9	21					0	0	0.001855	0	0
GPSM1	26086	broad.mit.edu	37	9	139252529	139252529	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:139252529C>G	ENST00000440944.1	+	14	2105	c.1885C>G	c.(1885-1887)Ccg>Gcg	p.P629A	GPSM1_ENST00000429455.1_Missense_Mutation_p.P120A|GPSM1_ENST00000392944.1_Missense_Mutation_p.P120A	NM_001145638.1	NP_001139110.1	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	629					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)		CCCTACCATGCCGGACGAGGA	0.697000													7	21					0	0	0.001984	0	0
FAM101B	359845	broad.mit.edu	37	17	292987	292987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:292987G>A	ENST00000329099.4	-	2	402	c.403C>T	c.(403-405)Ccg>Tcg	p.P135S		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	205										breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		TCGCTGCCCGGGAGCTCCGCG	0.657000													11	17					0	0	0.001368	0	0
ZFP41	286128	broad.mit.edu	37	8	144332051	144332051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:144332051C>T	ENST00000330701.4	+	2	407	c.38C>T	c.(37-39)aCc>aTc	p.T13I	ZFP41_ENST00000520584.1_Missense_Mutation_p.T13I|ZFP41_ENST00000522452.1_Missense_Mutation_p.T13I	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	13					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AAGACGCCGACCCCAAGGGAG	0.602000													6	12					0	0	0.001168	0	0
ECT2L	345930	broad.mit.edu	37	6	139222119	139222119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:139222119C>T	ENST00000423192.1	+	20	2610	c.2449C>T	c.(2449-2451)Ctc>Ttc	p.L817F	ECT2L_ENST00000541398.1_Missense_Mutation_p.L671F|ECT2L_ENST00000367682.2_Missense_Mutation_p.L817F			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	817					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCTTTTCCTCTTCAATGA	0.418000			"""N, Splice, Mis"""		ETP ALL								11	26					0	0	0.000673	0	0
SMARCC1	6599	broad.mit.edu	37	3	47629743	47629743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:47629743G>A	ENST00000254480.5	-	28	3393	c.3274C>T	c.(3274-3276)Cct>Tct	p.P1092S	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1092	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GGAGGCGGAGGGACCCCATCT	0.602000													11	53					0	0	0.001855	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243360	38243360	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:38243360G>A	ENST00000319669.4	+	11	894	c.792G>A	c.(790-792)agG>agA	p.R264R	TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	264						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TACTGGGCAGGAGCACCTTGT	0.438000													34	30					0	0	0.002836	0	0
OTOGL	283310	broad.mit.edu	37	12	80729754	80729754	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:80729754T>C	ENST00000458043.2	+	38	4413	c.4407T>C	c.(4405-4407)ttT>ttC	p.F1469F	OTOGL_ENST00000547103.1_Silent_p.F1457F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTCAGAAATTTGATCCTGTTT	0.343000													11	46					0	0	0.000978	0	0
MYH8	4626	broad.mit.edu	37	17	10303905	10303905	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:10303905C>T	ENST00000403437.2	-	27	3631	c.3537G>A	c.(3535-3537)agG>agA	p.R1179R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1179					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCAGGTCCCTGCGCAGTT	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				18	89					0	0	0.007413	0	0
ABCA5	23461	broad.mit.edu	37	17	67257356	67257356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:67257356C>T	ENST00000392676.3	-	26	3538	c.3474G>A	c.(3472-3474)atG>atA	p.M1158I	ABCA5_ENST00000588877.1_Missense_Mutation_p.M1158I|ABCA5_ENST00000392677.2_Missense_Mutation_p.M1159I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1158					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTGTGTATCCCATAAAGAAAG	0.313000													13	31					0	0	0.003163	0	0
LGR6	59352	broad.mit.edu	37	1	202163294	202163294	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:202163294C>T	ENST00000367278.3	+	1	266	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	59	LRRNT.					integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCTGTCCGCCGTTCCGGGGG	0.741000													11	22					0	0	0.002450	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359359	72359359	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:72359359G>A	ENST00000001146.2	-	6	1739	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	CYP26B1_ENST00000546307.1_Silent_p.V437V|CYP26B1_ENST00000412253.1_Silent_p.V321V	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	512					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCTTGGGTTAGACTGTGGCGC	0.657000													3	10					0	0	0.000248	0	0
AHSA2	130872	broad.mit.edu	37	2	61413920	61413920	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:61413920G>A	ENST00000394457.2	+	6	2156	c.413G>A	c.(412-414)tGa>tAa	p.*138*	AHSA2_ENST00000357022.2_Silent_p.*138*|AHSA2_ENST00000410073.1_Silent_p.*147*|AHSA2_ENST00000489653.1_3'UTR	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	0					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CTAAATGGTTGAATTAAAATT	0.328000													6	21					0	0	0.001984	0	0
GPR174	84636	broad.mit.edu	37	X	78427409	78427409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:78427409G>A	ENST00000276077.1	+	1	941	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	302						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTCCGAAGACGGCTTTCAAGA	0.398000										HNSCC(63;0.18)			16	29					0	0	0.004007	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448463	89448463	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:89448463G>A	ENST00000399794.2	-	3	1762	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Silent_p.P349P	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	349	Ser-rich.						nucleotide binding|RNA binding										CTACAGAAGGGGGAAGCCCTC	0.532000													26	165					0	0	0.005443	0	0
TRPC5	7224	broad.mit.edu	37	X	111097218	111097218	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:111097218G>A	ENST00000262839.2	-	4	1935	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	339					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGGAAACAGGAACCCAATGG	0.507000													14	10					0	0	0.002450	0	0
POTEH	23784	broad.mit.edu	37	22	16267002	16267002	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:16267002A>T	ENST00000343518.6	-	9	1498	c.1447T>A	c.(1447-1449)Tta>Ata	p.L483I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	483										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GGTGGAATTAATCCATCATCA	0.433000													19	354					0	0	0.002780	0	0
SAMD11	148398	broad.mit.edu	37	1	861352	861352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:861352C>T	ENST00000342066.3	+	2	114	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	AL645608.1_ENST00000598827.1_Missense_Mutation_p.G83E	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	11						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGTGCATCCTCCGATCTGCGA	0.642000													12	63					0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61955959	61955959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:61955959G>A	ENST00000280772.1	-	16	2022	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.Q605*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.Q594*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	611					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCCACTTTCTGATTATCGTAA	0.488000													9	35					0	0	0.000673	0	0
C3	718	broad.mit.edu	37	19	6707488	6707488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:6707488C>T	ENST00000245907.6	-	16	2128	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	679					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTGTCCATTCGCTTCTCCGT	0.682000													11	76					0	0	0.001368	0	0
ASIC5	51802	broad.mit.edu	37	4	156775308	156775308	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:156775308A>C	ENST00000537611.2	-	3	552	c.506T>G	c.(505-507)tTt>tGt	p.F169C		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	169						integral to membrane|plasma membrane											GTTCCTGATAAATTCCACAAT	0.393000													10	62					0	0	0.006214	0	0
REG1A	5967	broad.mit.edu	37	2	79348795	79348795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:79348795G>A	ENST00000233735.1	+	3	275	c.172G>A	c.(172-174)Gtt>Att	p.V58I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	58	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGAGACCTGGGTTGATGCAGA	0.562000													31	101					0	0	0.003755	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798210	148798210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:148798210C>T	ENST00000355220.5	+	5	1166	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P326L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	355	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTGGGGAGCCCAAGAGGCTC	0.547000													57	95					0	0	0.003610	0	0
OSBP2	23762	broad.mit.edu	37	22	31286814	31286814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr22:31286814G>A	ENST00000332585.6	+	8	1827	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	OSBP2_ENST00000382310.3_Missense_Mutation_p.E526K|OSBP2_ENST00000437268.2_Missense_Mutation_p.E317K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E574K|OSBP2_ENST00000407373.1_Missense_Mutation_p.E402K|OSBP2_ENST00000535268.1_Missense_Mutation_p.E119K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E409K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E208K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	575					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CAGCTCAGTGGAGCAGATGTG	0.612000											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	29					0	0	0.006122	0	0
CNDP1	84735	broad.mit.edu	37	18	72250892	72250892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:72250892C>T	ENST00000582365.1	+	10	1342	c.1276C>T	c.(1276-1278)Ccg>Tcg	p.P426S	CNDP1_ENST00000358821.3_Missense_Mutation_p.P469S			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	469					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGTGCTAATTCCGCTGGGAGC	0.478000													11	79					0	0	0.000978	0	0
MEGF11	84465	broad.mit.edu	37	15	66215178	66215178	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:66215178C>G	ENST00000409699.2	-	14	1977	c.1805G>C	c.(1804-1806)gGa>gCa	p.G602A	MEGF11_ENST00000422354.1_Missense_Mutation_p.G602A|MEGF11_ENST00000288745.3_Missense_Mutation_p.G527A|MEGF11_ENST00000395625.2_Missense_Mutation_p.G527A|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.G602A			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	602	EGF-like 10.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCATAAGGGTCCTCGGAAGCC	0.617000													11	43					0	0	0.001368	0	0
NAT10	55226	broad.mit.edu	37	11	34160824	34160824	+	Silent	SNP	C	C	T	rs113424951		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:34160824C>T	ENST00000257829.3	+	22	2504	c.2298C>T	c.(2296-2298)gcC>gcT	p.A766A	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.A694A	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	766	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGCTTGCAGCCTTCTGGAAAG	0.582000													20	80					0	0	0.001523	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534323	3534323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:3534323G>A	ENST00000315677.3	-	10	2943	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	DLGAP1_ENST00000581527.1_Missense_Mutation_p.A783V|DLGAP1_ENST00000400155.1_Missense_Mutation_p.A489V|DLGAP1_ENST00000400145.2_Missense_Mutation_p.A481V|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A783V|DLGAP1_ENST00000400147.2_Missense_Mutation_p.A481V|DLGAP1_ENST00000400149.3_Missense_Mutation_p.A473V|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A783V|DLGAP1_ENST00000400150.3_Missense_Mutation_p.A499V|DLGAP1_ENST00000534970.1_Missense_Mutation_p.A467V|DLGAP1_ENST00000581699.1_Missense_Mutation_p.A489V|DLGAP1_ENST00000539435.1_Missense_Mutation_p.A491V	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	783					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTTGCACGGCCTCCAGAGG	0.592000													11	27					0	0	0.000673	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735399	140735399	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:140735399T>C	ENST00000571252.1	+	1	632	c.632T>C	c.(631-633)gTt>gCt	p.V211A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCACCTCGTTCTCACGGCC	0.557000													3	10					0	0	0.004672	0	0
LCA5L	150082	broad.mit.edu	37	21	40794924	40794924	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:40794924T>C	ENST00000358268.2	-	5	1343	c.815A>G	c.(814-816)gAc>gGc	p.D272G	LCA5L_ENST00000380671.2_Missense_Mutation_p.D272G|LCA5L_ENST00000485895.2_Missense_Mutation_p.D272G|LCA5L_ENST00000288350.3_Missense_Mutation_p.D272G			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	272										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GTCATTTGCGTCCATTTTTGT	0.378000													15	81					0	0	0.001216	0	0
RNF216	54476	broad.mit.edu	37	7	5780684	5780684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:5780684C>T	ENST00000425013.2	-	4	1017	c.793G>A	c.(793-795)Gag>Aag	p.E265K	RNF216_ENST00000389902.3_Missense_Mutation_p.E322K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	265					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AAATTGGGCTCTTGAGATTCT	0.448000													25	73					0	0	0.003330	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32894010	32894010	+	RNA	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:32894010G>A	ENST00000330048.5	-	0	1247					NR_003083.2																						TGGTGCTAAAGGACTTGACCA	0.592000													8	23					0	0	0.003080	0	0
RPIA	22934	broad.mit.edu	37	2	89036100	89036100	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:89036100C>T	ENST00000283646.4	+	7	700	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	215					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GAATCCCCATCGAGGTCATCC	0.493000													11	85					0	0	0.001368	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424799	6424799	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:6424799T>C	ENST00000449001.2	+	4	937	c.443T>C	c.(442-444)cTc>cCc	p.L148P	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L180P|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L180P|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L180P	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	180					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GTGAGAAAGCTCAAGATCATG	0.632000													12	18					0	0	0.001368	0	0
SOGA2	23255	broad.mit.edu	37	18	8784163	8784163	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:8784163G>A	ENST00000306285.7	+	0	1195				SOGA2_ENST00000517570.1_Silent_p.K351K|SOGA2_ENST00000306329.11_Silent_p.K711K|SOGA2_ENST00000359865.3_Silent_p.K351K|SOGA2_ENST00000400050.3_Silent_p.K351K			Q9Y4B5	CC165_HUMAN	SOGA family member 2																		TCAGCGGCAAGGTGCTCAAAC	0.682000													6	42					0	0	0.001168	0	0
MCM8	84515	broad.mit.edu	37	20	5953805	5953805	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:5953805T>C	ENST00000378896.3	+	12	1735	c.1358T>C	c.(1357-1359)gTt>gCt	p.V453A	MCM8_ENST00000265187.4_Missense_Mutation_p.V437A|MCM8_ENST00000378883.1_Intron|MCM8_ENST00000378886.2_Missense_Mutation_p.V493A	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	453	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATCCTTGTTGTTGGAGATCCA	0.408000													17	60					0	0	0.001523	0	0
KCNB1	3745	broad.mit.edu	37	20	47989668	47989668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:47989668C>T	ENST00000371741.4	-	2	2595	c.2429G>A	c.(2428-2430)aGg>aAg	p.R810K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	810					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACAGTTCTGCCTTAAGAACTT	0.517000													37	143					0	0	0.005524	0	0
VPS13B	157680	broad.mit.edu	37	8	100287445	100287445	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:100287445C>T	ENST00000395996.1	+	19	2898	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	VPS13B_ENST00000358544.2_Silent_p.I929I|VPS13B_ENST00000357162.2_Silent_p.I929I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	929					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTCACAATCCAAGTTCCAC	0.398000													24	107					0	0	0.002096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530696	110530696	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:110530696T>C	ENST00000378402.5	+	73	12094	c.11990T>C	c.(11989-11991)aTt>aCt	p.I3997T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3997					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAATAGAGATTGGAGACCCT	0.388000										HNSCC(38;0.096)			8	34					0	0	0.006214	0	0
ITPR1	3708	broad.mit.edu	37	3	4810359	4810359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:4810359G>A	ENST00000354582.6	+	45	6195	c.5845G>A	c.(5845-5847)Gac>Aac	p.D1949N	ITPR1_ENST00000443694.2_Missense_Mutation_p.D1949N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D1916N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D1916N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D1901N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.D1949N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1964					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCCAAGGACGACCTGGAGAT	0.612000													28	101					0	0	0.003755	0	0
PDPR	55066	broad.mit.edu	37	16	70176284	70176284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:70176284C>T	ENST00000288050.4	+	12	2420	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	PDPR_ENST00000398122.3_Missense_Mutation_p.P388L|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Missense_Mutation_p.P488L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	488					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTTGTTCCCCCCGACAAGGGT	0.433000													5	70					0	0	0.000602	0	0
KRT80	144501	broad.mit.edu	37	12	52585452	52585452	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:52585452G>A	ENST00000313234.5	-	1	332	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	KRT80_ENST00000394815.2_Silent_p.L79L	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	79	Head.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGGTTCTTCAGCTGCTGAACA	0.567000													20	85					0	0	0.001216	0	0
BRINP3	339479	broad.mit.edu	37	1	190067643	190067643	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:190067643G>A	ENST00000367462.3	-	8	2037	c.1806C>T	c.(1804-1806)gaC>gaT	p.D602D	FAM5C_ENST00000534846.1_Silent_p.D500D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		602						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGGGGTAGGTCCAACTTAG	0.468000													40	187					0	0	0.006999	0	0
N4BP2L1	90634	broad.mit.edu	37	13	32981886	32981886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:32981886C>T	ENST00000380130.2	-	2	298	c.203G>A	c.(202-204)aGg>aAg	p.R68K	N4BP2L1_ENST00000380139.4_Missense_Mutation_p.R68K|N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000380133.2_Missense_Mutation_p.R68K|N4BP2L1_ENST00000459716.1_5'UTR	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	68					cell killing		ATP binding			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AATCAGGGCCCTGGGAAAGTC	0.408000													20	47					0	0	0.007413	0	0
BAZ2B	29994	broad.mit.edu	37	2	160285724	160285724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:160285724G>A	ENST00000392783.2	-	11	2737	c.2242C>T	c.(2242-2244)Cca>Tca	p.P748S	BAZ2B_ENST00000355831.2_Missense_Mutation_p.P748S|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P746S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P648S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	748	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATTCCAATGGAATACGCAGT	0.279000													4	38					0	0	0.000602	0	0
MIR154	406946	broad.mit.edu	37	14	101526114	101526114	+	RNA	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:101526114C>T	ENST00000385243.1	+	0	23					NR_029704.1																						GATAGGTTATCCGTGTTGCCT	0.498000													35	100					0	0	0.004878	0	0
ACPP	55	broad.mit.edu	37	3	132061482	132061482	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:132061482T>G	ENST00000336375.5	+	6	732	c.642T>G	c.(640-642)taT>taG	p.Y214*	ACPP_ENST00000475741.1_Nonsense_Mutation_p.Y181*|ACPP_ENST00000351273.7_Nonsense_Mutation_p.Y214*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	214						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACCCTTTATATTGTGAGGTAA	0.313000													13	65					0	0	0.001855	0	0
ANK3	288	broad.mit.edu	37	10	61846547	61846547	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:61846547G>A	ENST00000280772.1	-	30	3827	c.3636C>T	c.(3634-3636)ttC>ttT	p.F1212F	ANK3_ENST00000373827.2_Silent_p.F1206F|ANK3_ENST00000503366.1_Silent_p.F1213F|ANK3_ENST00000355288.2_Silent_p.F346F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1212					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGTTTATGGAATTTCCGTC	0.468000													7	63					0	0	0.006214	0	0
NEK4	6787	broad.mit.edu	37	3	52780208	52780208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:52780208G>A	ENST00000233027.5	-	10	1898	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	NEK4_ENST00000383721.4_Nonsense_Mutation_p.R520*|NEK4_ENST00000535191.1_Nonsense_Mutation_p.R477*	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	566					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GGCAAAAATCGAGGAGGCGAC	0.413000													17	67					0	0	0.004007	0	0
ARID2	196528	broad.mit.edu	37	12	46244297	46244297	+	Silent	SNP	A	A	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:46244297A>T	ENST00000334344.6	+	15	2563	c.2391A>T	c.(2389-2391)ccA>ccT	p.P797P	ARID2_ENST00000444670.1_Silent_p.P407P|ARID2_ENST00000422737.1_Silent_p.P648P|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	797	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAGCTGTCCCACAGAGTCATA	0.458000			"""N, S, F"""		hepatocellular carcinoma								8	36					0	0	0.003080	0	0
CETN1	1068	broad.mit.edu	37	18	580721	580721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:580721G>A	ENST00000327228.3	+	1	355	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	105	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CACCAAAGAAGAAATCCTGAA	0.532000													16	48					0	0	0.004007	0	0
CELSR3	1951	broad.mit.edu	37	3	48696988	48696988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:48696988C>T	ENST00000544264.1	-	1	3360	c.3080G>A	c.(3079-3081)cGg>cAg	p.R1027Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1027Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1027	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TACTGCCTCCCGGTCTAGCCG	0.552000													20	79					0	0	0.001216	0	0
LUM	4060	broad.mit.edu	37	12	91502039	91502039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:91502039C>T	ENST00000266718.4	-	2	1172	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	240					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.E240K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGCCAGTTCGTTGTGAGAT	0.388000													21	58					0	0	0.001523	0	0
OR4X1	390113	broad.mit.edu	37	11	48286288	48286288	+	Silent	SNP	G	G	A	rs140713653		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:48286288G>A	ENST00000320048.1	+	1	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V292V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGCTGAAGTGAAAAATGCCA	0.413000													11	35					0	0	0.000673	0	0
ASB10	136371	broad.mit.edu	37	7	150873298	150873298	+	Silent	SNP	G	G	A	rs138510080		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:150873298G>A	ENST00000422024.1	-	5	1565	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	ASB10_ENST00000420175.2_Silent_p.S435S|ASB10_ENST00000275838.1_Silent_p.S397S|ASB10_ENST00000434669.1_Silent_p.S442S|ASB10_ENST00000377867.3_Silent_p.S420S	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	435					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCAGGTGGGAGCGGAGCG	0.657000													8	50					0	0	0.004482	0	0
IQGAP3	128239	broad.mit.edu	37	1	156507026	156507026	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:156507026G>A	ENST00000361170.2	-	27	3379	c.3369C>T	c.(3367-3369)ctC>ctT	p.L1123L	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1123	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGTCATGGCGAGGAGGTTGC	0.557000													10	79					0	0	0.000978	0	0
F13A1	2162	broad.mit.edu	37	6	6305714	6305714	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:6305714C>T	ENST00000264870.3	-	3	454	c.189G>A	c.(187-189)gtG>gtA	p.V63V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	63					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			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)	TGTGGTGGTCCACCTTGTTAG	0.428000													9	37					0	0	0.000673	0	0
MEGF11	84465	broad.mit.edu	37	15	66215179	66215179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:66215179C>T	ENST00000409699.2	-	14	1976	c.1804G>A	c.(1804-1806)Gga>Aga	p.G602R	MEGF11_ENST00000422354.1_Missense_Mutation_p.G602R|MEGF11_ENST00000288745.3_Missense_Mutation_p.G527R|MEGF11_ENST00000395625.2_Missense_Mutation_p.G527R|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Missense_Mutation_p.G602R			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	602	EGF-like 10.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CATAAGGGTCCTCGGAAGCCA	0.612000													11	43					0	0	0.001368	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422553	21422553	+	Missense_Mutation	SNP	C	C	T	rs150224028	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:21422553C>T	ENST00000307378.6	-	16	2662	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E516K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E648K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E516K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	648					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CACTCATTTTCCTTCCCTTTG	0.333000													21	95					0	0	0.002299	0	0
LIPF	8513	broad.mit.edu	37	10	90435980	90435980	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:90435980G>A	ENST00000394375.3	+	10	1046	c.933G>A	c.(931-933)ggG>ggA	p.G311G	LIPF_ENST00000238983.4_Silent_p.G301G|LIPF_ENST00000496797.1_3'UTR|LIPF_ENST00000355843.2_Silent_p.G268G	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	301					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTAAGTCTGGGAAATTCCAAG	0.308000													9	54					0	0	0.006214	0	0
GMDS	2762	broad.mit.edu	37	6	1742779	1742779	+	Silent	SNP	G	G	A	rs149057214		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:1742779G>A	ENST00000380815.4	-	8	1082	c.813C>T	c.(811-813)ttC>ttT	p.F271F	GMDS_ENST00000530927.1_Silent_p.F241F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	271					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TAGCTATAACGAAGTCCTCCG	0.443000													15	56					0	0	0.004007	0	0
RNF165	494470	broad.mit.edu	37	18	44030306	44030306	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:44030306T>C	ENST00000269439.7	+	5	714	c.663T>C	c.(661-663)ctT>ctC	p.L221L	RNF165_ENST00000543885.1_Silent_p.L29L	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	221							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TTCACTTCCTTGCTCTCCAGG	0.517000													13	44					0	0	0.002450	0	0
TP53I11	9537	broad.mit.edu	37	11	44958373	44958373	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:44958373G>A	ENST00000533940.1	-	8	919	c.315C>T	c.(313-315)ctC>ctT	p.L105L	TP53I11_ENST00000525680.1_Silent_p.L105L|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000308212.5_Silent_p.L105L|TP53I11_ENST00000531928.2_Silent_p.L105L|TP53I11_ENST00000395648.3_Silent_p.L105L	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	105					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CACCGCCGTAGAGGCGGATGG	0.692000											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	26					0	0	0.003080	0	0
NR3C2	4306	broad.mit.edu	37	4	149356890	149356890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:149356890G>A	ENST00000355292.3	-	2	1485	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	NR3C2_ENST00000511528.1_Missense_Mutation_p.P375S|NR3C2_ENST00000358102.3_Missense_Mutation_p.P375S|NR3C2_ENST00000342437.4_Missense_Mutation_p.P375S|NR3C2_ENST00000512865.1_Missense_Mutation_p.P375S|NR3C2_ENST00000344721.4_Missense_Mutation_p.P375S			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	375	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TCAGTCTTAGGAAAAGGGACC	0.498000													15	74					0	0	0.003163	0	0
EMR3	84658	broad.mit.edu	37	19	14785576	14785576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:14785576C>T	ENST00000253673.5	-	1	107	c.7G>A	c.(7-9)Gga>Aga	p.G3R	EMR3_ENST00000595472.1_Missense_Mutation_p.G3R|EMR3_ENST00000344373.4_Missense_Mutation_p.G3R|EMR3_ENST00000599900.1_Intron|EMR3_ENST00000443157.2_Missense_Mutation_p.G3R	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	3					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGCAATGGTCCCTGCATTTCT	0.502000													18	64					0	0	0.006122	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774767	31774767	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:31774767G>A	ENST00000396556.2	-	6	1199	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Silent_p.T295T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	359					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTGGCTGTGAGGTTTGTTCGT	0.453000													10	67					0	0	0.001368	0	0
CTSA	5476	broad.mit.edu	37	20	44523490	44523490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:44523490G>A	ENST00000372484.3	+	10	1234	c.952G>A	c.(952-954)Gat>Aat	p.D318N	CTSA_ENST00000372459.2_Missense_Mutation_p.D300N|CTSA_ENST00000354880.5_Missense_Mutation_p.D301N|CTSA_ENST00000191018.5_Missense_Mutation_p.D300N	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	300					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTGGTCCAGGATTTGGGCAA	0.632000													28	99					0	0	0.001512	0	0
NR2E1	7101	broad.mit.edu	37	6	108489328	108489328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:108489328C>T	ENST00000368983.3	+	1	102	c.98C>T	c.(97-99)tCg>tTg	p.S33L	NR2E1_ENST00000368986.4_Intron			Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCTTTAGGCTCGGGCCTACCC	0.622000													5	6					0	0	0.000602	0	0
PIGO	84720	broad.mit.edu	37	9	35093125	35093125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:35093125C>T	ENST00000378617.3	-	6	1415	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	PIGO_ENST00000361778.2_Missense_Mutation_p.G341R|PIGO_ENST00000298004.5_Missense_Mutation_p.G341R|PIGO_ENST00000341666.3_Missense_Mutation_p.G341R	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	341					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCACTTCCCCGATATTCCCA	0.567000													4	43					0	0	0.000248	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163612	161163612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:161163612G>A	ENST00000367996.4	-	6	1981	c.1553C>T	c.(1552-1554)cCa>cTa	p.P518L		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	518	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACCAGCCTGTGGAATCTGCAA	0.637000													9	31					0	0	0.000673	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969382	47969382	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:47969382G>A	ENST00000236877.6	-	2	674	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	93					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGGCCGCCATGAAACGGTCGG	0.582000													12	41					0	0	0.001368	0	0
KRAS	3845	broad.mit.edu	37	12	25378647	25378647	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:25378647T>G	ENST00000311936.3	-	4	542	c.351A>C	c.(349-351)aaA>aaC	p.K117N	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.K117N	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	117			K -> N (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.K117N(9)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCAAATCACATTTATTTCCTA	0.358000		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			24	79					0	0	0.003954	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224024	43224024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:43224024C>T	ENST00000255226.6	+	10	2066	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P417L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	417						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P417Q(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAACAACCCAGCCATCTTC	0.567000													41	98					0	0	0.006999	0	0
BTN1A1	696	broad.mit.edu	37	6	26506979	26506979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:26506979C>T	ENST00000244513.6	+	4	844	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	260						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCTAGGACTTCTCACCATTGG	0.453000													55	212					0	0	0.003610	0	0
HOXD8	3234	broad.mit.edu	37	2	176996323	176996323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:176996323G>A	ENST00000313173.4	+	2	1483	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	HOXD8_ENST00000450510.2_Missense_Mutation_p.E285K|HOXD8_ENST00000429017.1_Missense_Mutation_p.E102K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.E285K|HOXD8_ENST00000548663.1_Missense_Mutation_p.E182K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	286					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AGACAGAGCCGAAGGCCTGAC	0.423000													8	25					0	0	0.003080	0	0
TTC40	54777	broad.mit.edu	37	10	134627746	134627746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:134627746G>A	ENST00000368586.5	-	54	7398	c.7298C>T	c.(7297-7299)cCt>cTt	p.P2433L	TTC40_ENST00000263170.5_Missense_Mutation_p.P594L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	594										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GATGGAGACAGGAGTTAGCAT	0.557000													7	23					0	0	0.001984	0	0
SAP130	79595	broad.mit.edu	37	2	128707888	128707888	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:128707888G>A	ENST00000357702.5	-	17	2726	c.2595C>T	c.(2593-2595)gcC>gcT	p.A865A	SAP130_ENST00000259234.6_Silent_p.A838A|SAP130_ENST00000259235.3_Silent_p.A830A	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	830	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTGGGGAGGCACCAGGTG	0.498000													25	101					0	0	0.002780	0	0
FLG	2312	broad.mit.edu	37	1	152275224	152275224	+	Silent	SNP	C	C	T	rs150630644		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:152275224C>T	ENST00000368799.1	-	3	12173	c.12138G>A	c.(12136-12138)tcG>tcA	p.S4046S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4046					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S4046S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTTGTTTCGATATATCAC	0.343000									Ichthyosis				5	54					0	0	0.001168	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846581	47846581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr6:47846581C>T	ENST00000339488.4	-	3	2032	c.1999G>A	c.(1999-2001)Ggt>Agt	p.G667S		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	667						integral to membrane	hedgehog receptor activity										AGGAGAACACCAAAGCCTGCA	0.478000													16	79					0	0	0.003163	0	0
MEGF8	1954	broad.mit.edu	37	19	42875635	42875635	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:42875635G>A	ENST00000334370.4	+	40	7703		c.e40+1		MEGF8_ENST00000378073.4_Intron|MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAAGTACCAGGTGCGGCTGCA	0.617000													10	61					0	0	0.000978	0	0
KIAA1468	57614	broad.mit.edu	37	18	59936121	59936121	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr18:59936121G>A	ENST00000256858.6	+	20	2948	c.2700G>A	c.(2698-2700)ggG>ggA	p.G900G	KIAA1468_ENST00000398130.2_Silent_p.G900G			Q9P260	K1468_HUMAN	KIAA1468	900							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CAGGAAATGGGGTCCTCACTA	0.299000													11	21					0	0	0.001368	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857522	9857522	+	Silent	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:9857522A>G	ENST00000396573.2	-	14	4188	c.3879T>C	c.(3877-3879)gaT>gaC	p.D1293D	GRIN2A_ENST00000396575.2_Silent_p.D1293D|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.D1293D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1293					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGACAATGTTATCGTAGGAAT	0.522000													16	86					0	0	0.004990	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047215	46047215	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:46047215C>T	ENST00000397911.3	+	1	176	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	KRTAP10-9_ENST00000484861.1_3'UTR|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	43	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GGCCCCCTGCCTGACCCTGGT	0.692000													12	59					0	0	0.001855	0	0
NNMT	4837	broad.mit.edu	37	11	114168875	114168875	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:114168875G>A	ENST00000535401.1	+	4	621	c.357G>A	c.(355-357)ggG>ggA	p.G119G	NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_Intron|NNMT_ENST00000299964.3_Silent_p.G119G			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	119					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	ATCTTGAAGGGAACAGGTAGA	0.488000													10	54					0	0	0.000673	0	0
ZMYND8	23613	broad.mit.edu	37	20	45850049	45850049	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:45850049C>T	ENST00000311275.7	-	20	3526	c.3273G>A	c.(3271-3273)tcG>tcA	p.S1091S	ZMYND8_ENST00000355972.4_Silent_p.S1091S|ZMYND8_ENST00000446994.2_Silent_p.S982S|ZMYND8_ENST00000536340.1_Silent_p.S1118S|ZMYND8_ENST00000458360.2_Silent_p.S959S|ZMYND8_ENST00000471951.2_Silent_p.S1111S|ZMYND8_ENST00000396281.4_Silent_p.S1091S|ZMYND8_ENST00000461685.1_Silent_p.S1065S|ZMYND8_ENST00000372023.3_Silent_p.S1013S|ZMYND8_ENST00000540497.1_Silent_p.S1039S|ZMYND8_ENST00000262975.4_Silent_p.S1045S|ZMYND8_ENST00000352431.2_Silent_p.S1065S|ZMYND8_ENST00000360911.3_Silent_p.S1040S			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1091	Poly-Ser.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATTGTGTGCTCGAGGAGCTCC	0.552000													15	34					0	0	0.004990	0	0
GPR139	124274	broad.mit.edu	37	16	20043470	20043470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:20043470G>A	ENST00000570682.1	-	2	949	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	217						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCACGGAGACGAAAATTGCTC	0.507000													13	66					0	0	0.001855	0	0
C9orf152	401546	broad.mit.edu	37	9	112969770	112969770	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:112969770G>A	ENST00000400613.4	-	1	699	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	30										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTTTCCCAGGGGCCTGAGTCC	0.642000													18	40					0	0	0.007413	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874692	24874692	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr10:24874692G>C	ENST00000396432.2	-	26	5012	c.4526C>G	c.(4525-4527)tCa>tGa	p.S1509*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTGTGTTTTGAGTTGTGTGG	0.488000													36	219					0	0	0.006230	0	0
CXCR6	10663	broad.mit.edu	37	3	45988910	45988910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:45988910G>A	ENST00000458629.1	+	1	2400	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.G313R|CXCR6_ENST00000457814.1_Missense_Mutation_p.G313R|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.G313R			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	313					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCTTACCTTGGGGTCTCACA	0.493000													19	63					0	0	0.001523	0	0
SCYL3	57147	broad.mit.edu	37	1	169842850	169842850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:169842850G>A	ENST00000367772.4	-	5	706	c.509C>T	c.(508-510)cCt>cTt	p.P170L	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Missense_Mutation_p.P170L|SCYL3_ENST00000367770.1_Missense_Mutation_p.P170L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	170	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTTCAGGAGGGATAGATGC	0.328000													13	84					0	0	0.002450	0	0
CNBD1	168975	broad.mit.edu	37	8	88249162	88249162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:88249162G>A	ENST00000518476.1	+	6	644	c.593G>A	c.(592-594)gGa>gAa	p.G198E	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	198								p.G198E(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GCAAATGATGGATTTTATGTA	0.348000													21	95					0	0	0.002780	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434164	69434164	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:69434164C>T	ENST00000317746.2	-	1	81	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	13					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACAACTGAGCTGCATCAGCA	0.428000													67	307					0	0	0.003610	0	0
DOK2	9046	broad.mit.edu	37	8	21767096	21767096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:21767096G>A	ENST00000276420.4	-	5	1223	c.965C>T	c.(964-966)cCt>cTt	p.P322L	DOK2_ENST00000544659.1_Missense_Mutation_p.P168L	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	322	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CAGGAGCTGAGGAGGGACTGC	0.652000													18	65					0	0	0.007413	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237794	132237794	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:132237794G>A	ENST00000321253.6	+	4	635	c.528G>A	c.(526-528)caG>caA	p.Q176Q	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	176					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAGCCCCCCAGGTCTCCACAG	0.572000													36	169					0	0	0.006999	0	0
FBN3	84467	broad.mit.edu	37	19	8151976	8151976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:8151976C>T	ENST00000600128.1	-	54	7153	c.6739G>A	c.(6739-6741)Ggg>Agg	p.G2247R	FBN3_ENST00000601739.1_Missense_Mutation_p.G2247R|FBN3_ENST00000270509.2_Missense_Mutation_p.G2247R			Q75N90	FBN3_HUMAN	fibrillin 3	2247	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			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						CAGCCCTCCCCAGAGCCAGGC	0.642000													11	35					0	0	0.000673	0	0
UNC5A	90249	broad.mit.edu	37	5	176306860	176306860	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:176306860C>T	ENST00000329542.4	+	15	2776	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L	UNC5A_ENST00000261961.3_Silent_p.L794L	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	834	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGCTGGCCTCTTCACAGTGT	0.657000													6	26					0	0	0.001168	0	0
RGAG1	57529	broad.mit.edu	37	X	109695732	109695732	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:109695732G>A	ENST00000465301.2	+	3	2133	c.1887G>A	c.(1885-1887)acG>acA	p.T629T	RGAG1_ENST00000540313.1_Silent_p.T629T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	629										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGATGTTCACGGAGAAAATGA	0.507000													18	26					0	0	0.007413	0	0
HR	55806	broad.mit.edu	37	8	21982912	21982912	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:21982912G>A	ENST00000381418.4	-	5	3142	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	HR_ENST00000312841.8_Silent_p.L554L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	554							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGCTTGGCGAGGCCTGTGC	0.687000													6	19					0	0	0.001984	0	0
NUP155	9631	broad.mit.edu	37	5	37318090	37318090	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr5:37318090C>A	ENST00000231498.3	-	21	2508	c.2305_splice	c.e21+1	p.E769_splice	NUP155_ENST00000513532.1_Splice_Site_p.E769_splice|NUP155_ENST00000381843.2_Splice_Site_p.E710_splice	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	769					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAATTTACCATGAAACTTC	0.383000													6	182					0.00198382	0.00412999	0.001984	1	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:214878736C>T	ENST00000331683.5	+	13	1557	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P394S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000													19	84					0	0	0.001882	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680984	106680984	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr11:106680984A>G	ENST00000526355.1	-	5	1895	c.1427T>C	c.(1426-1428)tTa>tCa	p.L476S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L497S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L476S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	476					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGTTCTTTCTAAAGTTGCCTT	0.443000													9	70					0	0	0.004482	0	0
F8	2157	broad.mit.edu	37	X	154124374	154124374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:154124374C>T	ENST00000360256.4	-	22	6607	c.6407G>A	c.(6406-6408)gGa>gAa	p.G2136E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2136	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTGGAATTTCCTCGATAAGT	0.398000													32	72					0	0	0.002836	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448464	89448464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:89448464G>A	ENST00000399794.2	-	3	1761	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P349L	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	349	Ser-rich.						nucleotide binding|RNA binding										TACAGAAGGGGGAAGCCCTCT	0.532000													27	168					0	0	0.006320	0	0
XIRP1	165904	broad.mit.edu	37	3	39226948	39226948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:39226948G>A	ENST00000340369.3	-	2	4217	c.3989C>T	c.(3988-3990)cCt>cTt	p.P1330L	XIRP1_ENST00000421646.1_Missense_Mutation_p.P13L|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1330	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TAGGTGTGCAGGTTTAGGGGG	0.602000													24	73					0	0	0.003330	0	0
JADE1	79960	broad.mit.edu	37	4	129783053	129783053	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:129783053C>T	ENST00000226319.6	+	9	1456	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	PHF17_ENST00000511647.1_Silent_p.S392S|PHF17_ENST00000512960.1_Silent_p.S392S|PHF17_ENST00000413543.2_Silent_p.S392S|PHF17_ENST00000452328.2_Silent_p.S380S	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		392					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGAGTGTTCCCCCCGGAATC	0.597000													20	98					0	0	0.001523	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719727	111719727	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:111719727C>T	ENST00000393917.2	+	3	841	c.289C>T	c.(289-291)Cta>Tta	p.L97L	TAGLN3_ENST00000486460.1_Silent_p.L13L|TAGLN3_ENST00000478951.1_Silent_p.L97L|TAGLN3_ENST00000455401.2_Silent_p.L97L|TAGLN3_ENST00000273368.4_Silent_p.L97L	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	97	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						CTCCCAGTTCCTAAAAGCTGC	0.473000													29	155					0	0	0.001786	0	0
RTN2	6253	broad.mit.edu	37	19	45998060	45998060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:45998060C>T	ENST00000245923.4	-	3	518	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.E95K	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	95						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCTCGTGGTTCCGAGACTGAG	0.677000													7	38					0	0	0.003080	0	0
HNRNPR	10236	broad.mit.edu	37	1	23648120	23648120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:23648120C>T	ENST00000478691.1	-	6	680	c.409G>A	c.(409-411)Gga>Aga	p.G137R	HNRNPR_ENST00000374616.3_Missense_Mutation_p.G238R|HNRNPR_ENST00000427764.2_Missense_Mutation_p.G200R|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G238R|HNRNPR_ENST00000426846.2_Missense_Mutation_p.G78R|HNRNPR_ENST00000606561.1_Missense_Mutation_p.G99R|HNRNPR_ENST00000374612.1_Missense_Mutation_p.G238R	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	238	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATGCACACTCCAAGGTGTTTA	0.403000													36	134					0	0	0.006999	0	0
RANBP10	57610	broad.mit.edu	37	16	67763671	67763671	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:67763671G>A	ENST00000317506.3	-	9	1174	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RANBP10_ENST00000411657.2_Silent_p.S236S|RANBP10_ENST00000602677.1_Silent_p.S353S|RANBP10_ENST00000536251.1_Silent_p.S124S|RANBP10_ENST00000448631.2_Silent_p.S297S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	353	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TGGGGCTTCGGGAGCTCAAAC	0.602000													20	97					0	0	0.001882	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454584	84454584	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr13:84454584C>T	ENST00000377084.2	-	1	1944	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	353	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTTTAAACCCGACCCTGGGA	0.537000													13	40					0	0	0.001855	0	0
PRSS12	8492	broad.mit.edu	37	4	119203267	119203267	+	Missense_Mutation	SNP	C	C	G	rs113331980		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:119203267C>G	ENST00000296498.3	-	13	2734	c.2452G>C	c.(2452-2454)Gtg>Ctg	p.V818L		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	818	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTGTCCACGCGTTTGTGT	0.542000													13	43					0	0	0.001368	0	0
SIRPG	55423	broad.mit.edu	37	20	1616214	1616214	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:1616214G>A	ENST00000381580.1	-	4	860	c.681C>T	c.(679-681)ccC>ccT	p.P227P	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000303415.3_Silent_p.P260P|SIRPG_ENST00000216927.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	260	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCACCCTCATGGGCTGTTGAG	0.547000													14	44					0	0	0.006122	0	0
IL27RA	9466	broad.mit.edu	37	19	14150410	14150410	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:14150410C>T	ENST00000263379.2	+	3	434	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	103					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGACAAACTCCTTGTCTGGG	0.607000													12	68					0	0	0.000978	0	0
KLHL13	90293	broad.mit.edu	37	X	117043543	117043543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:117043543C>T	ENST00000371876.1	-	4	3355	c.934G>A	c.(934-936)Gat>Aat	p.D312N	KLHL13_ENST00000262820.3_Missense_Mutation_p.D363N|KLHL13_ENST00000371878.1_Missense_Mutation_p.D312N|KLHL13_ENST00000469946.1_Missense_Mutation_p.D312N|KLHL13_ENST00000540167.1_Missense_Mutation_p.D347N|KLHL13_ENST00000539496.1_Missense_Mutation_p.D366N|KLHL13_ENST00000371882.1_Missense_Mutation_p.D312N|KLHL13_ENST00000545703.1_Missense_Mutation_p.D321N|KLHL13_ENST00000541812.1_Missense_Mutation_p.D347N			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	363					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCCTTTTCATCATACATGCGC	0.517000													19	33					0	0	0.007413	0	0
FLNC	2318	broad.mit.edu	37	7	128498224	128498224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:128498224C>T	ENST00000325888.8	+	47	8204	c.7943C>T	c.(7942-7944)gCc>gTc	p.A2648V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2615V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2648	Interaction with INPPL1.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGTCCCAGGCCTTCGTGGGC	0.652000													7	52					0	0	0.001855	0	0
RNF213	57674	broad.mit.edu	37	17	78327434	78327434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:78327434G>A	ENST00000582970.1	+	34	10689	c.10546G>A	c.(10546-10548)Gga>Aga	p.G3516R	RNF213_ENST00000508628.2_Missense_Mutation_p.G3565R|RNF213_ENST00000336301.6_Missense_Mutation_p.G1589R|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGAGAAGGTGGGAAAGGAAAC	0.557000													22	82					0	0	0.002780	0	0
SPATA16	83893	broad.mit.edu	37	3	172674560	172674560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:172674560G>A	ENST00000351008.3	-	6	1171	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	330					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GTCGCAAATGGTGTGTACATA	0.363000													13	67					0	0	0.003163	0	0
CASS4	57091	broad.mit.edu	37	20	55033749	55033749	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:55033749G>A	ENST00000371336.3	+	6	2508	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	CASS4_ENST00000360314.3_Silent_p.A769A|CASS4_ENST00000434344.1_Silent_p.A332A	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	769					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCTCCAGGCGGAGGCTGAGA	0.627000													5	13					0	0	0.001168	0	0
SULT1A1	6817	broad.mit.edu	37	16	28617511	28617511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:28617511G>A	ENST00000395609.1	-	9	1399	c.641C>T	c.(640-642)tCc>tTc	p.S214F	SULT1A1_ENST00000314752.7_Missense_Mutation_p.S214F|SULT1A1_ENST00000569554.1_Missense_Mutation_p.S214F|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S214F|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S136F			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	214					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CTCTGGCAGGGAGCGCCCCAC	0.547000													8	63					0	0	0.004482	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978960	119978960	+	Silent	SNP	T	T	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr4:119978960T>C	ENST00000307142.4	+	5	3853	c.3657T>C	c.(3655-3657)taT>taC	p.Y1219Y	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGTTGCCATATGCATATTATA	0.433000													13	69					0	0	0.004007	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577107	158577107	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:158577107G>A	ENST00000361284.1	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATAGTCTAAGGAATAGGGCTA	0.463000													43	205					0	0	0.003214	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18167944	18167944	+	Silent	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr20:18167944G>A	ENST00000278816.2	+	11	2840	c.2190G>A	c.(2188-2190)aaG>aaA	p.K730K	CSRP2BP_ENST00000489634.2_Silent_p.K602K|CSRP2BP_ENST00000377681.2_Silent_p.K729K|CSRP2BP_ENST00000435364.2_Silent_p.K730K			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	730	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GCATGGGCAAGGACGTAACCC	0.403000													31	135					0	0	0.002096	0	0
ZFP41	286128	broad.mit.edu	37	8	144332052	144332052	+	Silent	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr8:144332052C>T	ENST00000330701.4	+	2	408	c.39C>T	c.(37-39)acC>acT	p.T13T	ZFP41_ENST00000520584.1_Silent_p.T13T|ZFP41_ENST00000522452.1_Silent_p.T13T	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	13					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGACGCCGACCCCAAGGGAGG	0.602000													6	11					0	0	0.001168	0	0
TFCP2	7024	broad.mit.edu	37	12	51512481	51512481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:51512481G>A	ENST00000307660.4	-	2	917	c.197C>T	c.(196-198)cCt>cTt	p.P66L	TFCP2_ENST00000548115.1_Missense_Mutation_p.P66L|TFCP2_ENST00000257915.5_Missense_Mutation_p.P66L|TFCP2_ENST00000549867.1_Missense_Mutation_p.P66L	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	66					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATATTGAAAAGGCAGGATTTT	0.383000													21	72					0	0	0.001523	0	0
EPHA6	285220	broad.mit.edu	37	3	96706780	96706780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr3:96706780C>T	ENST00000389672.5	+	3	1095	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	EPHA6_ENST00000542517.1_Missense_Mutation_p.P259S|EPHA6_ENST00000470610.2_Missense_Mutation_p.P353S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	258	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGGCTGGTTCCTCTTGGAAG	0.413000													23	67					0	0	0.002780	0	0
PYGO2	90780	broad.mit.edu	37	1	154931385	154931386	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr1:154931385_154931386delCT	ENST00000368457.2	-	3	1261_1262	c.1090_1091delAG	c.(1090-1092)cfs	p.S364fs	PYGO2_ENST00000368456.1_Frame_Shift_Del_p.S327fs	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	364					Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATAGGCGCTCTCAGTCATG	0.579													8	45	---	---	---	---					
INO80B	83444	broad.mit.edu	37	2	74683021	74683038	+	In_Frame_Del	DEL	CCTATGGAAGGAGTCCCC	CCTATGGAAGGAGTCCCC	-	rs114533892	by1000genomes	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr2:74683021_74683038delCCTATGGAAGGAGTCCCC	ENST00000233331.7	+	3	422_439	c.328_345delCCTATGGAAGGAGTCCCC	c.(328-345)del	p.PMEGVP110del	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_In_Frame_Del_p.PMEGVP110del	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	110					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGAAGAGGAACCTATGGAAGGAGTCCCCCTTGAGCAGT	0.518													7	152	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621					NR_033416.1																						CTTTCTGTAACTTTTTTTTTTT	0.317													3	6	---	---	---	---					
SLC13A4	26266	broad.mit.edu	37	7	135390892	135390892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr7:135390892delT	ENST00000354042.4	-	4	1211	c.522delA	c.(520-522)gafs	p.E175fs		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	175						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GTTCGGCCTCTTCGGTGTTGG	0.627													25	58	---	---	---	---					
SET	6418	broad.mit.edu	37	9	131455214	131455215	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr9:131455214_131455215insT	ENST00000322030.8	+	5	803_804	c.446_447insT	c.(445-447)ggafs	p.G149fs	SET_ENST00000372688.4_Frame_Shift_Ins_p.G138fs|SET_ENST00000477806.1_3'UTR|SET_ENST00000372692.4_Frame_Shift_Ins_p.G162fs|SET_ENST00000409104.3_Frame_Shift_Ins_p.G140fs	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	162					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AATGAGAGTGGTGATCCATCTT	0.297			T	NUP214	AML								7	30	---	---	---	---					
ASUN	55726	broad.mit.edu	37	12	27078704	27078707	+	Frame_Shift_Del	DEL	GAAC	GAAC	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:27078704_27078707delGAAC	ENST00000261191.7	-	6	1198_1201	c.662_665delGTTC	c.(661-666)ctfs	p.RS221fs	ASUN_ENST00000539625.1_Frame_Shift_Del_p.RS120fs	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	221					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CTCTTTTTTAGAACGATCAGATAC	0.333													16	54	---	---	---	---					
WIF1	11197	broad.mit.edu	37	12	65462653	65462653	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr12:65462653delT	ENST00000286574.4	-	4	803	c.429delA	c.(427-429)aafs	p.K143fs		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	143	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CCCCATCCTGTTTTCCAAGAC	0.353			T	HMGA2	pleomorphic salivary gland adenoma								19	77	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852269	20852269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:20852269delT	ENST00000262715.5	-	24	3502	c.3462delA	c.(3460-3462)cafs	p.Q1154fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.Q1046fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1154					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCATCAGCCGTTGCACTGTGT	0.637													18	68	---	---	---	---					
PAPOLA	10914	broad.mit.edu	37	14	96993806	96993806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr14:96993806delT	ENST00000216277.8	+	5	591	c.371delT	c.(370-372)gtfs	p.V124fs	PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Frame_Shift_Del_p.V124fs|PAPOLA_ENST00000557471.1_Frame_Shift_Del_p.V124fs|PAPOLA_ENST00000557320.1_Frame_Shift_Del_p.V124fs	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	124					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAAGACATGTTGATCGAAGT	0.343													18	45	---	---	---	---					
HMG20A	10363	broad.mit.edu	37	15	77759553	77759553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr15:77759553delA	ENST00000381714.3	+	5	782	c.354delA	c.(352-354)cgfs	p.R118fs	HMG20A_ENST00000336216.4_Frame_Shift_Del_p.R118fs	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	118					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGAGCGTCGAGAACAACTTC	0.458													25	42	---	---	---	---					
MYH11	4629	broad.mit.edu	37	16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-	rs149241435	byFrequency	TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:15820795_15820797delCTT	ENST00000338282.6	-	28	3872_3874	c.3766_3768delAAG	c.(3766-3768)del	p.K1256del	MYH11_ENST00000576790.1_In_Frame_Del_p.K1256del|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000452625.2_In_Frame_Del_p.K1263del|MYH11_ENST00000396324.3_In_Frame_Del_p.K1263del|MYH11_ENST00000300036.5_In_Frame_Del_p.K1256del	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1256			Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGCCTCCAGCTTCTTCTTCTTA	0.611			T	CBFB	AML								49	196	---	---	---	---					
MAZ	4150	broad.mit.edu	37	16	29821430	29821438	+	In_Frame_Del	DEL	GCGGCAGCG	GCGGCAGCG	-	rs75194070		TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr16:29821430_29821438delGCGGCAGCG	ENST00000322945.6	+	5	1477_1485	c.1312_1320delGCGGCAGCG	c.(1312-1320)del	p.AAA444del	MAZ_ENST00000562337.1_In_Frame_Del_p.AAA139del|MAZ_ENST00000545521.1_In_Frame_Del_p.AAA421del|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_In_Frame_Del_p.AAA45del|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000563402.1_Splice_Site_p.G95_splice|MAZ_ENST00000566906.2_Splice_Site_p.G95_splice|MAZ_ENST00000219782.6_3'UTR	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	444	Poly-Ala.			Missing (in Ref. 3).	regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ggcggcggcagcggcagcggcggcagcgg	0.665													13	37	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15752254	15752254	+	RNA	DEL	T	T	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:15752254delT	ENST00000584636.1	+	0	316																											GTCTTCCACCTTTTCAGTTTG	0.478													2	4	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29220806	29220806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr17:29220806delT	ENST00000321990.4	+	21	5313	c.4935delT	c.(4933-4935)tgfs	p.C1645fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1645					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTCTCATTGTTTAAATTCTC	0.358													21	193	---	---	---	---					
PLEKHJ1	55111	broad.mit.edu	37	19	2236167	2236167	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr19:2236167delG	ENST00000589097.1	-	2	1194	c.81delC	c.(79-81)ccfs	p.P27fs	PLEKHJ1_ENST00000326631.2_Frame_Shift_Del_p.P27fs|PLEKHJ1_ENST00000589791.1_Intron|PLEKHJ1_ENST00000586608.1_Frame_Shift_Del_p.P27fs|PLEKHJ1_ENST00000588545.1_Frame_Shift_Del_p.P27fs|PLEKHJ1_ENST00000591099.1_Frame_Shift_Del_p.P27fs|PLEKHJ1_ENST00000587962.1_Frame_Shift_Del_p.P27fs|PLEKHJ1_ENST00000587394.1_Frame_Shift_Del_p.P27fs			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	27	PH.						protein binding			endometrium(1)|kidney(1)	2				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)		TGCCCTTCTTGGGGCCCCTCA	0.746													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													3	3	---	---	---	---					
FAM58A	92002	broad.mit.edu	37	X	152860109	152860109	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A29N-06A-12D-A197-08	TCGA-EE-A29N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6c0e7c-15a2-4a4e-b9c4-a62332d15c52	47c54eeb-d2c8-4772-b4a1-1ac032ca7e3e	g.chrX:152860109delC	ENST00000406277.2	-	5	421	c.319delG	c.(319-321)aafs	p.E107fs	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	109					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCAATTCCAGGGGCTCA	0.552													11	17	---	---	---	---