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
SPAM1	6677	broad.mit.edu	37	7	123599958	123599958	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:123599958C>A	ENST00000340011.5	+	5	1822	c.1465C>A	c.(1465-1467)Cta>Ata	p.L489I	SPAM1_ENST00000223028.7_Missense_Mutation_p.L489I|SPAM1_ENST00000439500.1_Missense_Mutation_p.L489I|SPAM1_ENST00000402183.2_Missense_Mutation_p.L489I|SPAM1_ENST00000460182.1_Missense_Mutation_p.L489I	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	489					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ACCCTCCACACTATCTGCCAC	0.378000													18	123					2.94398e-08	3.15644e-08	1	1	0
TENM1	10178	broad.mit.edu	37	X	123680911	123680911	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:123680911A>G	ENST00000422452.2	-	15	2527	c.2464T>C	c.(2464-2466)Tgt>Cgt	p.C822R	TENM1_ENST00000371130.3_Missense_Mutation_p.C822R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGTTGACAACAGTCAGGATCC	0.383000													20	95					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													5	67					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186182	101186182	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:101186182C>T	ENST00000294728.2	+	2	316	c.215C>T	c.(214-216)aCg>aTg	p.T72M	VCAM1_ENST00000370115.1_Missense_Mutation_p.T72M|VCAM1_ENST00000347652.2_Missense_Mutation_p.T72M|VCAM1_ENST00000370119.4_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	72	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.T72M(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAAGGTGACGAATGAGGGG	0.468000													4	97					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10369732	10369732	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:10369732G>C	ENST00000255381.2	-	4	316	c.204_splice	c.e4-1	p.T69_splice	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	69	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(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						CACAGTTACAGTCTGTTAAGA	0.403000													20	129					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67190518	67190518	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:67190518A>G	ENST00000345057.4	-	2	514	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	TRADD_ENST00000566104.1_5'UTR	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	16					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACAAACAGGTATGCGCTGCCC	0.607000													33	131					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160394984	160394984	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:160394984C>T	ENST00000368061.2	+	8	1856	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	461					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGTGGACATTGGTGAGC	0.567000													8	48					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	99					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250282	177250282	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:177250282C>G	ENST00000361539.4	+	8	2282	c.1970C>G	c.(1969-1971)tCc>tGc	p.S657C	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		657						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GATGACAGCTCCAATGAGACA	0.458000													21	102					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	40					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42879720	42879720	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:42879720T>C	ENST00000334370.4	+	41	7765	c.7130T>C	c.(7129-7131)cTc>cCc	p.L2377P	MEGF8_ENST00000251268.6_Missense_Mutation_p.L2444P|MEGF8_ENST00000378073.4_Missense_Mutation_p.L38P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2444						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)				TGCTACCGCCTCATCTCGGTG	0.672000													2	12					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531340	43531340	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:43531340C>G	ENST00000430334.3	-	7	2011	c.1878G>C	c.(1876-1878)aaG>aaC	p.K626N	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.K537N	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	626					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGCCGGACCTTCTGCAGGG	0.672000													3	43					0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14063144	14063144	+	RNA	SNP	C	C	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:14063144C>A	ENST00000310358.7	+	0	960							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CGGAGGAGGACCCGGATCCAG	0.468000													37	122					4.11147e-13	4.50098e-13	1	1	0
MYO6	4646	broad.mit.edu	37	6	76599869	76599869	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:76599869G>T	ENST00000369981.3	+	26	3033	c.2754G>T	c.(2752-2754)caG>caT	p.Q918H	MYO6_ENST00000369977.3_Missense_Mutation_p.Q918H|MYO6_ENST00000369985.4_Missense_Mutation_p.Q918H|MYO6_ENST00000369975.1_Missense_Mutation_p.Q918H			Q9UM54	MYO6_HUMAN	myosin VI	918					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAAAAAAACAGCAGGAAGAGG	0.408000													4	116					0.150653	0.152116	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1926644	1926644	+	Silent	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:1926644G>A	ENST00000399161.2	-	10	1644	c.897C>T	c.(895-897)taC>taT	p.Y299Y	MYT1L_ENST00000428368.2_Silent_p.Y299Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	299					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCAACATGACGTAATTCATAT	0.463000													7	278					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818172	7818172	+	Silent	SNP	G	G	A	rs140285767		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:7818172G>A	ENST00000329434.2	-	1	348	c.318C>T	c.(316-318)gtC>gtT	p.V106V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGACGCATTCGACTGTTGCAA	0.493000													5	162					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935161	4935161	+	Silent	SNP	G	G	A	rs148525665		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:4935161G>A	ENST00000345988.2	-	22	3584	c.3495C>T	c.(3493-3495)aaC>aaT	p.N1165N	PPL_ENST00000590782.2_Silent_p.N1163N	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1165					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACTTTGGCGTTCTCCTCCT	0.617000													21	130					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164148	32164148	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:32164148G>A	ENST00000375023.3	-	29	5389	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1751					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAAGCGAGCGGGCGGCTCGG	0.627000													6	201					0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5266228	5266228	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:5266228C>T	ENST00000262477.6	+	10	1809	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.L529F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L529F|RABEP1_ENST00000537505.1_Missense_Mutation_p.L486F|RABEP1_ENST00000408982.2_Missense_Mutation_p.L529F	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	529					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGGAAATAAACTTGGTAGACG	0.403000													13	53					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													7	105					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11319498	11319498	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:11319498G>A	ENST00000294618.7	-	39	4963	c.4952C>T	c.(4951-4953)tCa>tTa	p.S1651L	DOCK6_ENST00000319867.7_Missense_Mutation_p.S990L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1651	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACGTTGGATGAGATGTTCTG	0.637000													4	58					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835175	172835175	+	Missense_Mutation	SNP	G	G	A	rs141435669		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:172835175G>A	ENST00000351008.3	-	2	530	c.347C>T	c.(346-348)cCc>cTc	p.P116L		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	116					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.P116H(1)		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)			GTTCTTTAAGGGGATGTGAGG	0.418000													13	236					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30948045	30948045	+	Missense_Mutation	SNP	A	A	G	rs150148567	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:30948045A>G	ENST00000298139.5	+	14	1966	c.1717A>G	c.(1717-1719)Act>Gct	p.T573A		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	573	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGTCATGGCAACTGGTAAGTT	0.294000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				4	214					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135076308	135076308	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:135076308G>C	ENST00000409645.1	+	5	823	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	MGAT5_ENST00000281923.2_Missense_Mutation_p.E191Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	191					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTACCTCAGTGAGGTGAGTAG	0.453000													4	163					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125516758	125516758	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:125516758G>A	ENST00000241305.3	-	12	2042	c.1888C>T	c.(1888-1890)Cgg>Tgg	p.R630W	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	630					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGAGATTCCCGGTTATTCTCC	0.537000													34	106					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39922969	39922969	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:39922969G>T	ENST00000342274.4	-	8	3999	c.3637C>A	c.(3637-3639)Cct>Act	p.P1213T	BCOR_ENST00000378444.4_Missense_Mutation_p.P1247T|BCOR_ENST00000397354.3_Missense_Mutation_p.P1213T|BCOR_ENST00000378455.4_Missense_Mutation_p.P1195T|BCOR_ENST00000378463.1_Missense_Mutation_p.P90T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1247					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTCCCCTGAGGAATGGCCTCA	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	259					0.0381472	0.0392803	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29599533	29599533	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:29599533A>G	ENST00000431530.3	+	1	786	c.728A>G	c.(727-729)gAc>gGc	p.D243G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	233						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTGCAACTGACAGTACCTCA	0.582000													3	33					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33596381	33596381	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:33596381C>T	ENST00000321505.4	+	9	3653	c.3473C>T	c.(3472-3474)gCc>gTc	p.A1158V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1164V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1164V					KIAA1549-like																		CAAAGGATGGCCTTGACCCTT	0.468000													5	154					0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541853	101541853	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:101541853T>G	ENST00000520311.1	-	3	1012	c.209A>C	c.(208-210)gAt>gCt	p.D70A	ANKRD46_ENST00000519597.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000519316.1_Missense_Mutation_p.D70A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.D70A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.D70A	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	70						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGCCAGAAGATCGGCACCGAA	0.463000													5	94					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52939363	52939363	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:52939363G>A	ENST00000267119.5	-	8	1415	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	449	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTGACAGGGGAGGGAAATTC	0.433000													4	102					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127963594	127963594	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:127963594C>T	ENST00000223073.1	-	13	1504	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	RBM28_ENST00000415472.2_Missense_Mutation_p.A323T	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	464					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTCTTTTGGCCATATCAGCA	0.458000													5	218					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119914985	119914985	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:119914985G>A	ENST00000331113.4	+	1	1264	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	100					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AATTTCTACCGCACTGGGAAG	0.522000													26	300					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515094	56515094	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:56515094C>T	ENST00000257940.2	+	3	1024	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	250							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCAGGAAGCGGGTAGAGGA	0.517000													4	108					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552876	179552876	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:179552876C>G	ENST00000589042.1	-	127	32497	c.32273G>C	c.(32272-32274)aGa>aCa	p.R10758T	TTN_ENST00000342992.6_Missense_Mutation_p.R9514T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10441T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10441	Glu-rich.|Pro-rich.						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)			CTCCTCCTCTCTTTCTTCTTC	0.378000													6	244					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32813993	32813993	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr13:32813993T>C	ENST00000380250.3	+	46	7158	c.6662T>C	c.(6661-6663)tTg>tCg	p.L2221S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACATTACCTTGAATATGGTT	0.443000													19	56					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30554452	30554452	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:30554452T>A	ENST00000326195.8	+	20	2107	c.1995T>A	c.(1993-1995)agT>agA	p.S665R	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S627R	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	665	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGGGAAGAGTACGCTACTCC	0.547000													4	105					0	0	1	0	0
NKAIN2	154215	broad.mit.edu	37	6	124979412	124979412	+	Silent	SNP	G	G	A	rs142736368	byFrequency	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:124979412G>A	ENST00000368417.1	+	4	414	c.354G>A	c.(352-354)acG>acA	p.T118T	NKAIN2_ENST00000368416.1_Silent_p.T118T|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Silent_p.T103T	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	118						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GTACGGTGACGTCAGTGACAC	0.488000													4	101					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84267197	84267197	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:84267197G>C	ENST00000376499.3	-	6	1368	c.304C>G	c.(304-306)Caa>Gaa	p.Q102E	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Missense_Mutation_p.Q46E	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	102	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACCTGTTGTTGATGCTTT	0.463000													3	135					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418057	44418057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:44418057G>A	ENST00000269973.5	-	10	2621	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.Q511*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	511					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGAGAACTGACTGAAGGCC	0.493000													4	65					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382878	68382878	+	Silent	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:68382878G>A	ENST00000361478.1	-	2	581	c.204C>T	c.(202-204)agC>agT	p.S68S	PJA1_ENST00000374583.1_Silent_p.S68S|PJA1_ENST00000374584.3_Silent_p.S68S|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Silent_p.S13S	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	68							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGGCGATCGGCTCCTCTTGG	0.542000													5	197					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62128979	62128979	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr20:62128979C>T	ENST00000217182.3	-	2	303	c.138G>A	c.(136-138)gcG>gcA	p.A46A	EEF1A2_ENST00000298049.7_Silent_p.A46A	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	46						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCACCTCAGCCGCCTCCTTCT	0.612000													34	128					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614129	158614129	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:158614129G>T	ENST00000368148.3	-	30	4432	c.4252C>A	c.(4252-4254)Ctg>Atg	p.L1418M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1418M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1418					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGACCTCAGGGAATTCTCA	0.463000													8	139					0.0477658	0.0487023	1	1	0
HORMAD2	150280	broad.mit.edu	37	22	30517740	30517740	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:30517740A>C	ENST00000336726.6	+	9	885	c.530A>C	c.(529-531)aAt>aCt	p.N177T	HORMAD2_ENST00000403975.1_Missense_Mutation_p.N177T	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	177	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			CTTCCTAATAATGTTGTACTT	0.348000													11	37					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95911974	95911974	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:95911974G>C	ENST00000258499.3	-	6	2383	c.2095C>G	c.(2095-2097)Ccc>Gcc	p.P699A	USP44_ENST00000537435.2_Missense_Mutation_p.P699A|USP44_ENST00000393091.2_Missense_Mutation_p.P699A|USP44_ENST00000552440.1_3'UTR	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	699					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TCTTCATTGGGATGTTGGCTC	0.393000													6	200					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43831006	43831006	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:43831006G>A	ENST00000417669.1	+	3	721	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	MPPED1_ENST00000542779.1_Missense_Mutation_p.V93I|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.V93I|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Missense_Mutation_p.V126I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	93							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CACCCGCTTCGTCTGCGTCTC	0.652000													6	158					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033355	41033355	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr21:41033355G>A	ENST00000380620.3	+	5	1461	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	B3GALT5_ENST00000398714.2_Missense_Mutation_p.R290Q|B3GALT5_ENST00000343118.4_Missense_Mutation_p.R290Q|B3GALT5_ENST00000380618.1_Missense_Mutation_p.R290Q|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	290					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ATCAAGCCTCGGACTCTCTTG	0.577000													4	78					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2016629	2016629	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:2016629G>A	ENST00000382722.5	-	6	1120	c.758C>T	c.(757-759)aCt>aTt	p.T253I	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T189I|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T253I|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T189I	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	253						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAAGAATCCAGTTGCACTGCC	0.468000													15	34					0	0	1	0	0
REG4	83998	broad.mit.edu	37	1	120342348	120342348	+	Splice_Site	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:120342348C>G	ENST00000354219.1	-	5	742	c.303_splice	c.e5+1	p.K101_splice	REG4_ENST00000530654.1_Splice_Site_p.K101_splice|REG4_ENST00000256585.5_Splice_Site_p.K101_splice	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	101	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CTGAGGTTACCTTCTGTGGGT	0.532000													31	115					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373526	86373526	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr12:86373526C>T	ENST00000604798.1	-	8	2182	c.978G>A	c.(976-978)aaG>aaA	p.K326K	MGAT4C_ENST00000393205.2_Silent_p.K355K|MGAT4C_ENST00000549405.2_Silent_p.K326K|MGAT4C_ENST00000332156.1_Silent_p.K326K|MGAT4C_ENST00000552808.2_Silent_p.K326K|MGAT4C_ENST00000552435.2_3'UTR|MGAT4C_ENST00000548651.1_Silent_p.K326K			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	326					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATCATCATCCTTCAGCTTAT	0.408000													34	109					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374292	138374292	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:138374292T>C	ENST00000477593.1	-	23	3225	c.3152A>G	c.(3151-3153)gAa>gGa	p.E1051G	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E1051G|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E502G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1051	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGTCCAGCTTTCCCTGAGCGC	0.423000													4	166					0	0	1	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211103	107211103	+	RNA	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr14:107211103T>C	ENST00000390636.2	-	0	265																											ACTCCAGCCCTTTCCCGGAAG	0.572000													3	75					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129722478	129722478	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:129722478G>A	ENST00000281441.3	+	2	189	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	TMEM45B_ENST00000524567.1_Missense_Mutation_p.R34Q	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	34						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		AGCCACACGCGGAAGAACAGC	0.507000													35	118					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93762381	93762381	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr14:93762381G>C	ENST00000334746.5	-	2	324	c.17C>G	c.(16-18)tCt>tGt	p.S6C	BTBD7_ENST00000555525.1_Missense_Mutation_p.S6C|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.S6C	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	6										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGGATAATTAGATGCATTAGC	0.433000													4	111					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941546	13941546	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:13941546C>T	ENST00000254323.2	+	13	2841	c.2652C>T	c.(2650-2652)cgC>cgT	p.R884R	ZSWIM4_ENST00000440752.2_Silent_p.R718R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	884							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATATTCTGCGCCGCTGGACTC	0.697000													29	94					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119936	55119936	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:55119936C>T	ENST00000370862.3	+	3	741	c.405C>T	c.(403-405)acC>acT	p.T135T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	135					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTAGACCGTGTCGGTGT	0.408000													3	68					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	64					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33073796	33073796	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:33073796C>T	ENST00000397149.3	-	2	85	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	12	LisH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443000													4	75					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43333135	43333135	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:43333135A>C	ENST00000361428.2	-	2	520	c.443T>G	c.(442-444)tTa>tGa	p.L148*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.L148*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	148					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGTGATCCTTAAGCTCTTTTC	0.468000													3	96					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396086	34396086	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr15:34396086T>C	ENST00000397766.2	+	1	1813	c.1354T>C	c.(1354-1356)Tat>Cat	p.Y452H		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	452										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CAAGGTTTGGTATAAGAAATT	0.408000													7	162					0	0	1	0	0
MIR4485	100616263	broad.mit.edu	37	MT	2465	2465	+	RNA	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrM:2465T>C	ENST00000387347.2	+	0	795					NR_039705.1																						GGTTAAAAAAAGTAAAAGGAA	0.433000													2	7					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189591	124189591	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:124189591A>C	ENST00000357438.2	-	1	593	c.503T>G	c.(502-504)tTc>tGc	p.F168C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGACCTACAGAATGACAACAC	0.458000													22	87					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	101					0	0	1	0	0
HSPB2	3316	broad.mit.edu	37	11	111784509	111784509	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:111784509C>G	ENST00000304298.3	+	2	1027	c.439C>G	c.(439-441)Cct>Gct	p.P147A	CRYAB_ENST00000527950.1_Intron|HSPB2-C11orf52_ENST00000534100.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.P147A|CRYAB_ENST00000533475.1_5'UTR	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	147					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CCTGGAAGCACCTCGGGGTGG	0.592000													19	51					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48632612	48632612	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr17:48632612G>A	ENST00000006658.6	+	16	2297	c.2177G>A	c.(2176-2178)cGt>cAt	p.R726H	SPATA20_ENST00000393244.3_Missense_Mutation_p.R666H|SPATA20_ENST00000356488.4_Missense_Mutation_p.R710H|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	710					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGTGGAGACCGTCAGGCCAAG	0.597000													4	58					0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114620527	114620527	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:114620527T>C	ENST00000379611.5	-	2	483	c.196A>G	c.(196-198)Aag>Gag	p.K66E	CCDC112_ENST00000395557.4_5'UTR|CCDC112_ENST00000506442.1_5'UTR|CCDC112_ENST00000503027.1_Intron|CCDC112_ENST00000512261.1_5'UTR	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	0										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTGCTTTCTTAGTCTGATTA	0.323000													3	108					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137885942	137885942	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:137885942G>A	ENST00000260803.4	-	5	848	c.695C>T	c.(694-696)gCc>gTc	p.A232V	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	232						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATCAAGGCGGCAAACTTCAC	0.393000													4	116					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67561005	67561005	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:67561005C>T	ENST00000371007.2	-	7	625	c.516G>A	c.(514-516)ttG>ttA	p.L172L	C1orf141_ENST00000544837.1_Silent_p.L172L|C1orf141_ENST00000371006.1_Silent_p.L172L	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	172										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ACAACGGGAGCAAGCTTTTCT	0.333000													18	72					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53595734	53595734	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chrX:53595734T>C	ENST00000342160.3	-	48	7082	c.6625A>G	c.(6625-6627)Atg>Gtg	p.M2209V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M2209V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2209					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTTGTTCATGCCATTGTGC	0.517000													9	29					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	90					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20621392	20621392	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr20:20621392G>T	ENST00000202677.6	-	6	645	c.503C>A	c.(502-504)cCt>cAt	p.P168H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	168					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGTGTGCAAGGGCCCCTGGA	0.478000													4	99					0.014758	0.0155033	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	34					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053294	73053294	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:73053294T>A	ENST00000335350.6	+	12	2321	c.1905T>A	c.(1903-1905)ttT>ttA	p.F635L	UNC5B_ENST00000373192.4_Missense_Mutation_p.F624L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	635	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACTGGATCTTTCAGCTCAAGA	0.657000													8	142					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33630395	33630395	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:33630395A>G	ENST00000374316.5	+	9	1862	c.802A>G	c.(802-804)Aca>Gca	p.T268A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T268A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	268	Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCTGCGAACTACACTGCGCCA	0.612000													7	41					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									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)		TACATCTTTCAGGAGCTTGGT	0.388000													4	179					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914008	31914008	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:31914008A>G	ENST00000425368.2	+	1	523	c.10A>G	c.(10-12)Aat>Gat	p.N4D	CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	4					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CATGGGGAGCAATCTCAGCCC	0.587000													5	149					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113166965	113166965	+	Silent	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:113166965C>T	ENST00000295872.4	-	16	2605	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	782					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAATAGATACCTCAATTGTCC	0.348000													4	225					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63810648	63810648	+	Splice_Site	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:63810648G>A	ENST00000279873.7	+	5	1145	c.733_splice	c.e5-1	p.A245_splice	ARID5B_ENST00000309334.5_Splice_Site_p.A2_splice	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	245					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGTTTTCAGCGCCAAATCTTA	0.383000													4	120					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25572997	25572997	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:25572997C>G	ENST00000243189.7	-	2	734	c.458G>C	c.(457-459)aGa>aCa	p.R153T	C1orf63_ENST00000431849.2_Missense_Mutation_p.R153T|C1orf63_ENST00000417642.2_Missense_Mutation_p.R146T	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	153	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTCCCTCCATCTGCTGTGCTC	0.582000													5	222					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203677096	203677096	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:203677096G>A	ENST00000357681.5	+	10	2544	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ATP2B4_ENST00000367219.3_Missense_Mutation_p.R462H|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R474H|ATP2B4_ENST00000367218.3_Missense_Mutation_p.R474H|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R474H	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	474					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCATGAACCGCATGACTGTG	0.507000													4	125					0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16562527	16562527	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:16562527G>A	ENST00000298943.3	-	1	1477	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	180	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCCCTCCGCGCATCAGGACG	0.657000													3	50					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351226	36351226	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:36351226C>T	ENST00000360202.5	+	6	899	c.701C>T	c.(700-702)tCg>tTg	p.S234L	KIRREL2_ENST00000347900.6_Missense_Mutation_p.S184L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S214L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S234L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S234L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	234	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane		p.S234L(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCTGCTTCGCCACACACT	0.602000													3	65					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134113264	134113264	+	Splice_Site	SNP	A	A	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:134113264A>T	ENST00000452510.2	+	6	772	c.613_splice	c.e6-1	p.D205_splice	DDX46_ENST00000354283.4_Splice_Site_p.D205_splice	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	205	Poly-Asp.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTATTTTAGATGACGAAGAT	0.408000													25	100					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197169167	197169167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr1:197169167G>T	ENST00000367405.4	-	1	505	c.437C>A	c.(436-438)tCa>tAa	p.S146*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	146	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAAAAATTCTGATGTGTAAAG	0.333000													21	66					4.35082e-09	4.71338e-09	1	1	0
NAMPT	10135	broad.mit.edu	37	7	105902044	105902044	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:105902044G>T	ENST00000222553.3	-	8	1386	c.1079C>A	c.(1078-1080)aCc>aAc	p.T360N	NAMPT_ENST00000354289.4_Missense_Mutation_p.T360N	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	360					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						CTCTTGTAAGGTATTAATATC	0.289000													43	188					1.65492e-34	1.83097e-34	1	1	0
VHL	7428	broad.mit.edu	37	3	10191480	10191480	+	Missense_Mutation	SNP	T	T	A	rs121913346		TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:10191480T>A	ENST00000256474.2	+	3	1313	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	VHL_ENST00000345392.2_Missense_Mutation_p.L117Q|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex).|L -> V (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.L158Q(6)|p.L158P(5)|p.V155fs*15(2)|p.L158R(1)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158>?(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGTATACTCTGAAAGAGCGA	0.502000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				13	35					0	0	1	0	0
IGLV7-46	28775	broad.mit.edu	37	22	22724189	22724189	+	RNA	SNP	C	C	G	rs111551323	by1000genomes	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr22:22724189C>G	ENST00000390295.2	+	0	119																											GGAGCCCTCACTGACTGTGTC	0.512000													3	56					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704955	23704955	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr9:23704955G>A	ENST00000397312.2	-	4	722	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150C|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150C|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179C	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	150	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTAATAATGCGTCCATATTGT	0.428000													8	141					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32320187	32320187	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr10:32320187C>G	ENST00000302418.4	-	14	1852	c.1395G>C	c.(1393-1395)agG>agC	p.R465S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	465					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGTCTTGATCCCTTCTGGTAG	0.378000			T	"""RET, ALK"""	NSCLC								14	75					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1787180	1787180	+	Silent	SNP	C	C	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr19:1787180C>A	ENST00000539485.1	-	25	3338	c.3105G>T	c.(3103-3105)ctG>ctT	p.L1035L	ATP8B3_ENST00000525591.1_Silent_p.L988L|ATP8B3_ENST00000310127.6_Silent_p.L1025L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1025					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTTCATACAGGGGCTGAG	0.602000													4	13					0.00909568	0.00965256	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31355463	31355463	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr15:31355463C>T	ENST00000542188.1	-	7	1187	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	TRPM1_ENST00000397795.2_Missense_Mutation_p.V253M|TRPM1_ENST00000256552.6_Missense_Mutation_p.V275M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	253					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.V253L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCCTCCACCACGAGACCCACG	0.602000													18	169					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731748	140731748	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr5:140731748G>A	ENST00000523390.1	+	1	1921	c.1921G>A	c.(1921-1923)Gct>Act	p.A641T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGGTCGCTGTGCGTGA	0.692000													3	58					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141756645	141756645	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr7:141756645C>T	ENST00000475668.2	+	30	3650	c.3596C>T	c.(3595-3597)cCc>cTc	p.P1199L	MGAM_ENST00000549489.2_Missense_Mutation_p.P1199L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1199	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACGTTCCAGCCCCTGCCTGCC	0.512000													6	63					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74692366	74692366	+	Missense_Mutation	SNP	C	C	T	rs145141322	by1000genomes	TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr18:74692366C>T	ENST00000528160.1	-	3	237	c.184G>A	c.(184-186)Gga>Aga	p.G62R	MBP_ENST00000397875.3_3'UTR|MBP_ENST00000397869.3_3'UTR|MBP_ENST00000397866.4_3'UTR|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000526111.1_3'UTR|MBP_ENST00000397865.5_3'UTR|MBP_ENST00000355994.2_3'UTR|MBP_ENST00000382582.3_3'UTR|MBP_ENST00000354542.4_3'UTR|MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_3'UTR			P02686	MBP_HUMAN	myelin basic protein	0					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GACAGGATTCCGGAACCAGGT	0.502000													12	191					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682370	108682370	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr3:108682370A>G	ENST00000232603.5	-	27	2772	c.2690T>C	c.(2689-2691)aTa>aCa	p.I897T	MORC1_ENST00000483760.1_Missense_Mutation_p.I876T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	897					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						TTCATTATGTATTCCTCTTGT	0.313000													4	242					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43323502	43323502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr6:43323502delT	ENST00000361428.2	-	4	1647	c.1570delA	c.(1570-1572)ggfs	p.R526fs	ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	526					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTACGTCGCCTTTTTTCCTGT	0.493													7	598	---	---	---	---					
LOC101927487	101927487	broad.mit.edu	37	8	112230679	112230680	+	RNA	INS	-	-	T			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr8:112230679_112230680insT	ENST00000522778.1	-	0	122																											tTTCCTTTCCCttttttttttt	0.485													3	4	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108173586	108173586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4900-01A-01D-1462-08	TCGA-CJ-4900-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af8e4fc-79c3-448d-893c-6a25e7d41f48	731f468f-0c14-45d2-aae2-7155e8bbd5e1	g.chr11:108173586delG	ENST00000278616.4	+	36	5711	c.5326delG	c.(5326-5328)aafs	p.E1776fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.E1776fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1776					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTAGTTTTTAGAAGTACCCAG	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	246	---	---	---	---					
