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
PGAP1	80055	broad.mit.edu	37	2	197737706	197737706	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:197737706C>T	ENST00000354764.3	-	17	1711	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	PGAP1_ENST00000409475.1_Missense_Mutation_p.E533K	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	533					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGTGAATCTTCATAAGACCAA	0.244000													5	45					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192499	132192499	+	Silent	SNP	C	C	A	rs142028036	byFrequency	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:132192499C>A	ENST00000359827.3	-	2	1916	c.954G>T	c.(952-954)gcG>gcT	p.A318A	PLXNA4_ENST00000423507.2_Silent_p.A318A|PLXNA4_ENST00000378539.5_Silent_p.A318A|PLXNA4_ENST00000321063.4_Silent_p.A318A			Q9HCM2	PLXA4_HUMAN	plexin A4	318	Sema.					integral to membrane|intracellular|plasma membrane		p.A318A(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACGGCCCCCGCTTTGGACA	0.587000													14	80					2.32078e-09	2.58824e-09	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746620	77746620	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:77746620G>T	ENST00000409088.3	-	3	789	c.375C>A	c.(373-375)caC>caA	p.H125Q	LRRTM4_ENST00000409884.1_Missense_Mutation_p.H125Q|LRRTM4_ENST00000409911.1_Missense_Mutation_p.H126Q|LRRTM4_ENST00000409093.1_Missense_Mutation_p.H125Q|LRRTM4_ENST00000409282.1_Missense_Mutation_p.H126Q	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	125						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)		ATGTTTTATTGTGCAGATAAG	0.383000													7	46					7.48243e-07	8.04562e-07	1	1	0
SHPRH	257218	broad.mit.edu	37	6	146234666	146234666	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:146234666C>T	ENST00000367503.3	-	24	4684	c.4286G>A	c.(4285-4287)gGa>gAa	p.G1429E	SHPRH_ENST00000438092.2_Missense_Mutation_p.G1429E|SHPRH_ENST00000367505.2_Missense_Mutation_p.G1425E|SHPRH_ENST00000275233.7_Missense_Mutation_p.G1425E	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1425					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATTAACACCTCCCGATGTTTT	0.308000													11	85					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237548	140237548	+	Missense_Mutation	SNP	A	A	G	rs630162	by1000genomes	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:140237548A>G	ENST00000307360.5	+	1	1915	c.1915A>G	c.(1915-1917)Act>Gct	p.T639A	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_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)			TCTGGATGAGACTGACTCGCC	0.647000													2	8					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188891	3188891	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:3188891G>A	ENST00000400569.3	-	4	959	c.626C>T	c.(625-627)aCg>aTg	p.T209M	MYOM1_ENST00000261606.7_Missense_Mutation_p.T209M|MYOM1_ENST00000356443.4_Missense_Mutation_p.T209M			P52179	MYOM1_HUMAN	myomesin 1	209	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCTGGATGCCGTGGACTGCTT	0.522000													4	160					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202550768	202550768	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:202550768C>A	ENST00000409474.3	-	6	573	c.366G>T	c.(364-366)ttG>ttT	p.L122F	MPP4_ENST00000428900.2_Missense_Mutation_p.L122F|MPP4_ENST00000409143.1_Missense_Mutation_p.L95F|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000359962.5_Missense_Mutation_p.L122F|MPP4_ENST00000315506.7_Missense_Mutation_p.L122F|MPP4_ENST00000447335.2_Missense_Mutation_p.L122F	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	122	L27 2.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GGGCACTGAGCAAGGCCTGGG	0.473000													29	198					9.80977e-26	1.25231e-25	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112903522	112903522	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:112903522C>G	ENST00000161863.4	+	23	3433	c.3220C>G	c.(3220-3222)Ctt>Gtt	p.L1074V		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1074							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAGTAATGCTCTTCAGGAACC	0.323000													15	78					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112024237	112024237	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:112024237G>A	ENST00000371959.3	-	9	2349	c.2350C>T	c.(2350-2352)Cca>Tca	p.P784S	AMOT_ENST00000371958.1_Missense_Mutation_p.P552S|AMOT_ENST00000371962.1_Missense_Mutation_p.P552S|AMOT_ENST00000304758.1_Missense_Mutation_p.P375S|AMOT_ENST00000524145.1_Missense_Mutation_p.P784S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	784					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GACTTCGCTGGCCGCATGCAC	0.552000													100	339					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45226113	45226113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:45226113G>T	ENST00000372217.1	+	14	1718	c.1367G>T	c.(1366-1368)cGc>cTc	p.R456L	RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.R397L|KIF2C_ENST00000372224.4_Missense_Mutation_p.R510L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R469L|RP11-269F19.2_ENST00000440985.1_RNA			Q99661	KIF2C_HUMAN	kinesin family member 2C	510	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGGCAGACCCGCATGGAGGGC	0.572000													7	43					8.12818e-05	8.52607e-05	1	1	0
INCENP	3619	broad.mit.edu	37	11	61897767	61897767	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:61897767G>A	ENST00000394818.3	+	4	970	c.768G>A	c.(766-768)aaG>aaA	p.K256K	INCENP_ENST00000278849.4_Silent_p.K256K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	256					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCGTCTAAGCTCAGGATTG	0.642000													24	115					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52609150	52609150	+	Silent	SNP	A	A	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:52609150A>T	ENST00000371440.3	-	7	1300	c.963T>A	c.(961-963)gcT>gcA	p.A321A	BCAS1_ENST00000434986.2_Silent_p.A34A|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000395961.3_Intron			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	309						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCTTCTGACCAGCTTGTCCAT	0.453000													5	39					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584273	101584273	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:101584273G>A	ENST00000536262.2	-	6	1364	c.806C>T	c.(805-807)tCt>tTt	p.S269F		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	269					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTTTTACAAGAAATATATCT	0.398000													20	124					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73831747	73831747	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:73831747G>A	ENST00000207549.4	-	19	2087	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	570	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATGCGCAGCTGGCAG	0.647000									Familial Hemophagocytic Lymphohistiocytosis				21	35					0	0	1	0	0
GLI4	2738	broad.mit.edu	37	8	144358633	144358633	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:144358633G>A	ENST00000340042.1	+	4	875	c.790G>A	c.(790-792)Gag>Aag	p.E264K	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000523522.1_Missense_Mutation_p.E264K	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	264						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-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)			CCACAACGGCGAGAAGCCCTA	0.682000													12	72					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50752665	50752665	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr22:50752665G>C	ENST00000413817.2	-	13	1180	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		CTTCAACCTTGAAGGCTTTTT	0.637000													3	33					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579338	1579338	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:1579338G>A	ENST00000572621.1	-	17	2828	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	PRPF8_ENST00000304992.6_Missense_Mutation_p.R855W			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	855						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGTTCAACCGAGACTTCACA	0.527000													23	59					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898878	28898878	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:28898878G>C	ENST00000395503.4	+	8	947	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	ATP2A1_ENST00000357084.3_Missense_Mutation_p.E255Q|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E130Q	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	255					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAAGCTGGATGAGTTTGGGGA	0.577000													23	351					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20483185	20483185	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:20483185C>T	ENST00000361078.2	-	10	1376	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	PUM2_ENST00000319801.5_Missense_Mutation_p.G452R|PUM2_ENST00000338086.5_Missense_Mutation_p.G452R|PUM2_ENST00000403432.1_Missense_Mutation_p.G452R|PUM2_ENST00000536417.1_Missense_Mutation_p.G396R			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	452	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTTGCTCCAGGGCCAACC	0.428000													20	105					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	69					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990850	140990850	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:140990850C>A	ENST00000389484.3	-	91	14676	c.13705G>T	c.(13705-13707)Ggg>Tgg	p.G4569W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4569					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTTTGCCCATCCATATAT	0.333000										TSP Lung(27;0.18)			9	70					1.08611e-07	1.18917e-07	1	1	0
SPSB4	92369	broad.mit.edu	37	3	140866040	140866040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:140866040C>A	ENST00000310546.2	+	3	1495	c.751C>A	c.(751-753)Cgc>Agc	p.R251S	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGCCCTGGGCCGCCAGCGCCT	0.617000													10	37					2.74318e-10	3.16521e-10	1	1	0
ZFP64	55734	broad.mit.edu	37	20	50803567	50803567	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:50803567G>C	ENST00000216923.4	-	2	439	c.90C>G	c.(88-90)atC>atG	p.I30M	ZFP64_ENST00000361387.2_Missense_Mutation_p.I30M|ZFP64_ENST00000371518.2_Missense_Mutation_p.I30M|ZFP64_ENST00000346617.4_Missense_Mutation_p.I30M|ZFP64_ENST00000371515.4_Missense_Mutation_p.I28M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGCAGATATGGATGTCGGGAG	0.517000													6	40					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113974701	113974701	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr13:113974701G>A	ENST00000332556.4	+	6	986	c.792G>A	c.(790-792)tcG>tcA	p.S264S	LAMP1_ENST00000397181.3_Silent_p.S211S	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	264	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACAAGACCTCGGCCAGCGGGA	0.612000													32	200					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30937111	30937111	+	Silent	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:30937111C>A	ENST00000597505.1	-	25	3599	c.3600G>T	c.(3598-3600)gtG>gtT	p.V1200V	DCDC1_ENST00000339794.5_Silent_p.V279V|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTTCTTCTCCACCAAAACCA	0.458000													19	142					2.12542e-12	2.51033e-12	1	1	0
LGI3	203190	broad.mit.edu	37	8	22009054	22009054	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:22009054G>A	ENST00000306317.2	-	7	1066	c.777C>T	c.(775-777)atC>atT	p.I259I	LGI3_ENST00000424267.2_Silent_p.I235I	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	259					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCCACTTCAGGATGGTGCAGG	0.597000													31	122					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521190	36521190	+	Splice_Site	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:36521190G>C	ENST00000577233.1	+	4	958		c.e4-1		SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7						intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CTCTCTTCTAGATGATATCAG	0.557000													24	42					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93070933	93070933	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:93070933C>G	ENST00000370331.1	-	16	1962	c.1953G>C	c.(1951-1953)agG>agC	p.R651S	EVI5_ENST00000540033.1_Missense_Mutation_p.R651S|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.R662S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	651	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CTTCCCGAAGCCTCACAGCCA	0.388000													25	133					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177033852	177033852	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:177033852G>A	ENST00000468418.3	+	3	2100	c.10G>A	c.(10-12)Gag>Aag	p.E4K	HOXD3_ENST00000410016.1_Missense_Mutation_p.E4K|HOXD3_ENST00000249440.3_Missense_Mutation_p.E4K			P31249	HXD3_HUMAN	homeobox D3	4					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AATGTTATTTGAGCAGGGTCA	0.542000													11	41					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94316780	94316780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr4:94316780C>A	ENST00000282020.4	+	9	1526	c.1268C>A	c.(1267-1269)aCa>aAa	p.T423K	GRID2_ENST00000510992.1_Missense_Mutation_p.T328K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	423					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			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)	AATCCTGTCACAGGTCTGAAT	0.433000													24	120					1.26454e-06	1.35005e-06	1	1	0
DHX57	90957	broad.mit.edu	37	2	39088709	39088709	+	Silent	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:39088709C>G	ENST00000295373.6	-	5	969	c.843G>C	c.(841-843)ctG>ctC	p.L281L	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	281							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATCTACTTGTCAGATACTCCA	0.363000													13	72					0	0	1	0	0
CCDC24	149473	broad.mit.edu	37	1	44461725	44461725	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:44461725C>G	ENST00000372318.3	+	9	988	c.817C>G	c.(817-819)Cga>Gga	p.R273G	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	273										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTTCGACCTCGAGGCCAGTC	0.682000													13	81					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196599676	196599676	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:196599676C>T	ENST00000409086.3	+	10	2682	c.2407C>T	c.(2407-2409)Ctt>Ttt	p.L803F	SLC39A10_ENST00000541054.1_Missense_Mutation_p.L353F|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L803F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	803					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCAATTCATCCTTCAGAATTT	0.383000													25	149					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495438	20495438	+	RNA	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:20495438C>A	ENST00000555186.1	+	0	641					NR_038836.1																						ACTCCAGGTTCTAGCCCAGGT	0.388000													4	85					0.000602214	0.000614504	1	1	0
FAM207A	85395	broad.mit.edu	37	21	46363613	46363613	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr21:46363613C>G	ENST00000291634.6	+	2	192	c.144C>G	c.(142-144)atC>atG	p.I48M	FAM207A_ENST00000397826.3_Missense_Mutation_p.I48M	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	48																	GGGCGTTCATCAACACCAACA	0.527000													8	81					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201185815	201185815	+	Silent	SNP	C	C	A	rs35669472		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:201185815C>A	ENST00000335211.4	+	16	9659	c.9529C>A	c.(9529-9531)Cgg>Agg	p.R3177R	IGFN1_ENST00000295591.8_Silent_p.R337R	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.R3177W(2)|p.R337W(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCGAGTGCGGGCTGTGAC	0.647000													24	119					2.85442e-18	3.53853e-18	1	1	0
LOC100131347	100131347	broad.mit.edu	37	17	37213404	37213404	+	RNA	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:37213404G>A	ENST00000583447.1	+	0	133					NR_036551.1																						CACGGCCGACGCTTTGCATGT	0.612000													8	28					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962541	41962541	+	RNA	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:41962541T>C	ENST00000454645.1	-	0	963					NR_003670.1																						GTTCTTTATATACCATATGCA	0.328000													4	25					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235679	1235679	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:1235679G>A	ENST00000324642.3	+	4	646	c.523G>A	c.(523-525)Gac>Aac	p.D175N	SLC6A18_ENST00000296821.4_Missense_Mutation_p.D175N	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	175					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGACATCAATGACAGTGGCTC	0.582000													19	232					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50339050	50339050	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:50339050C>G	ENST00000312865.6	+	16	1866	c.1813C>G	c.(1813-1815)Ccc>Gcc	p.P605A	MED25_ENST00000538643.1_Missense_Mutation_p.P392A	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	605	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CACGGGGCAGCCCCAGCCCCA	0.716000													4	23					0	0	1	0	0
NDUFB11	54539	broad.mit.edu	37	X	47001811	47001811	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:47001811C>T	ENST00000377811.3	-	3	1191	c.367G>A	c.(367-369)Gag>Aag	p.E123K	NDUFB11_ENST00000276062.8_Missense_Mutation_p.E133K	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	123					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						ACAAGCCTCTCAGCTTCGCGG	0.552000													11	65					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165418	161165418	+	Silent	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:161165418G>T	ENST00000367996.4	-	4	1526	c.1098C>A	c.(1096-1098)gtC>gtA	p.V366V	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	366	Peptidase M12B.				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)			GCATGTTGAAGACATGACCTG	0.532000													20	121					2.39556e-15	2.92142e-15	1	1	0
OR14C36	127066	broad.mit.edu	37	1	248512536	248512536	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:248512536G>T	ENST00000317861.1	+	1	460	c.460G>T	c.(460-462)Gca>Tca	p.A154S		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCTTGTCTATGCAGGCATGCA	0.522000													18	80					9.16793e-09	1.0149e-08	1	1	0
CEP192	55125	broad.mit.edu	37	18	13071110	13071110	+	Silent	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:13071110A>G	ENST00000506447.1	+	28	5327	c.5247A>G	c.(5245-5247)tcA>tcG	p.S1749S	CEP192_ENST00000325971.8_Silent_p.S1153S|CEP192_ENST00000430049.2_Silent_p.S1274S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1344										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCATTTCTTCAGGAAGTAAAC	0.408000													13	79					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696958	169696958	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:169696958C>A	ENST00000333360.7	-	9	1529	c.1390G>T	c.(1390-1392)Gga>Tga	p.G464*	SELE_ENST00000367777.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Nonsense_Mutation_p.G339*|SELE_ENST00000367781.4_Nonsense_Mutation_p.G401*|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Nonsense_Mutation_p.G401*|SELE_ENST00000367775.1_Nonsense_Mutation_p.G339*|SELE_ENST00000367782.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	464	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AATTCAAATCCCTCCTCACAG	0.493000													31	125					2.70662e-09	3.00736e-09	1	1	0
RYR3	6263	broad.mit.edu	37	15	33925183	33925183	+	Silent	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:33925183T>A	ENST00000389232.4	+	24	2971	c.2901T>A	c.(2899-2901)ccT>ccA	p.P967P	RYR3_ENST00000415757.3_Silent_p.P967P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	967	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCCAGCCCCTTTGGATTTGT	0.368000													16	102					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323836	88323836	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:88323836C>A	ENST00000418177.2	-	7	1990	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	GRM5_ENST00000305432.5_Missense_Mutation_p.E541D|GRM5_ENST00000455756.2_Missense_Mutation_p.E541D|GRM5_ENST00000393297.1_Missense_Mutation_p.E541D|GRM5_ENST00000305447.4_Missense_Mutation_p.E541D			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	541					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAAAGACATACTCATTCTCCT	0.398000													15	94					0.000229342	0.000238071	1	1	0
PHRF1	57661	broad.mit.edu	37	11	609458	609458	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:609458C>T	ENST00000264555.5	+	14	4130	c.4002C>T	c.(4000-4002)ccC>ccT	p.P1334P	PHRF1_ENST00000416188.2_Silent_p.P1333P|PHRF1_ENST00000413872.2_Silent_p.P1332P|PHRF1_ENST00000533464.1_Silent_p.P1330P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1334							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTTCGCAGCCCCCACCCCTGC	0.672000													5	17					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300221	35300221	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:35300221C>G	ENST00000254457.5	+	5	2425	c.1014C>G	c.(1012-1014)agC>agG	p.S338R	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	338					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACCCGTCGAGCGAGGCGCAGC	0.736000													12	11					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525054	248525054	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:248525054C>A	ENST00000366475.1	+	1	172	c.172C>A	c.(172-174)Cta>Ata	p.L58I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATCCAGCACTACTTTGTGT	0.488000													49	177					3.86236e-30	4.973e-30	1	1	0
ZMYND10	51364	broad.mit.edu	37	3	50379537	50379537	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:50379537T>C	ENST00000231749.3	-	9	2180	c.908A>G	c.(907-909)cAg>cGg	p.Q303R	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_Intron|ZMYND10_ENST00000360165.3_Missense_Mutation_p.Q298R	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	303						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTTGGGCAGCTGGTCCAGCAG	0.592000										TSP Lung(30;0.18)			28	114					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110334	72110334	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:72110334T>A	ENST00000540303.2	+	5	433	c.401T>A	c.(400-402)aTc>aAc	p.I134N	HPR_ENST00000228226.8_Missense_Mutation_p.I171N|HPR_ENST00000356967.5_Missense_Mutation_p.I134N|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	134	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GCCACGCTGATCAATGAACAA	0.507000													11	54					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36381481	36381481	+	Splice_Site	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:36381481C>A	ENST00000340950.2	-	1	115	c.117_splice	c.e1+1	p.R39_splice	NFKBID_ENST00000396901.1_Intron|NFKBID_ENST00000352614.2_Intron|NFKBID_ENST00000606253.1_Intron			Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	202					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GACCCTGACCCTTggcggagt	0.577000													9	27					0.000274275	0.00028179	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1063571	1063571	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:1063571G>A	ENST00000263094.6	+	43	5972	c.5741G>A	c.(5740-5742)gGa>gAa	p.G1914E	ABCA7_ENST00000435683.2_Missense_Mutation_p.G1776E|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1914E	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1914	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGTCTGGGACTCTCATGG	0.672000													15	69					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90128471	90128471	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:90128471C>G	ENST00000407825.1	-	7	759	c.122G>C	c.(121-123)aGa>aCa	p.R41T	PRDM7_ENST00000325921.6_Missense_Mutation_p.R41T|PRDM7_ENST00000449207.2_Missense_Mutation_p.R247T			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	247	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGGCCCAATTCTCAGCCCCGG	0.592000													6	71					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878114	39878114	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:39878114A>G	ENST00000530275.1	+	1	1964	c.1769A>G	c.(1768-1770)tAt>tGt	p.Y590C	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	590										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCTGGATTATCAAGCCACA	0.463000													9	60					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888649	89888649	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:89888649A>T	ENST00000435811.1	-	9	1683	c.1229T>A	c.(1228-1230)cTg>cAg	p.L410Q	GABRR1_ENST00000454853.2_Missense_Mutation_p.L427Q|GABRR1_ENST00000369451.3_Missense_Mutation_p.L340Q	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	427					gamma-aminobutyric acid signaling pathway|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			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGCCAGGGTCAGCTGCACCAT	0.537000													26	168					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5769199	5769199	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:5769199C>G	ENST00000414202.2	+	22	3558	c.3367C>G	c.(3367-3369)Cca>Gca	p.P1123A	KIAA1432_ENST00000418622.3_Missense_Mutation_p.P1044A|KIAA1432_ENST00000449720.2_Missense_Mutation_p.P1007A|KIAA1432_ENST00000251879.6_Missense_Mutation_p.P1123A|KIAA1432_ENST00000381532.2_Missense_Mutation_p.P1044A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1123						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTGGCCACTTCCAATCATCCC	0.433000													60	273					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157859	59157859	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:59157859C>A	ENST00000262717.4	+	2	471	c.73C>A	c.(73-75)Ctg>Atg	p.L25M	CDH20_ENST00000538374.1_Missense_Mutation_p.L25M|CDH20_ENST00000536675.2_Missense_Mutation_p.L25M			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	25					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTTCTGGGGGCTGATGGACCT	0.502000													23	81					7.87624e-14	9.52772e-14	1	1	0
SPZ1	84654	broad.mit.edu	37	5	79617070	79617070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:79617070C>T	ENST00000296739.4	+	1	1281	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCATCAGAAACAGGGAACTCT	0.388000													18	82					0	0	1	0	0
IGKV3-7	28915	broad.mit.edu	37	2	89278278	89278278	+	RNA	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:89278278G>A	ENST00000390247.2	-	0	153																											CAATTTCTCTGGTGGTATCCA	0.443000													20	144					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080731	126080731	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:126080731C>A	ENST00000368364.3	+	5	994	c.797C>A	c.(796-798)gCc>gAc	p.A266D	HEY2_ENST00000368365.1_Missense_Mutation_p.A220D	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	266	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACCGTCCACGCCGCAGCCGCA	0.682000													78	320					1.80454e-33	2.35375e-33	1	1	0
MYH13	8735	broad.mit.edu	37	17	10258048	10258048	+	Silent	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:10258048T>A	ENST00000418404.3	-	10	1117	c.954A>T	c.(952-954)ggA>ggT	p.G318G	MYH13_ENST00000570743.1_Silent_p.G318G|MYH13_ENST00000252172.4_Silent_p.G318G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	318	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCGTGACCTCTCCTTGGCTCA	0.448000													60	105					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102496574	102496574	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr14:102496574G>C	ENST00000360184.4	+	51	10002	c.9838G>C	c.(9838-9840)Gaa>Caa	p.E3280Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3280	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGTGTCAAAGAAGATCTTGA	0.463000													6	76					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999592	160999592	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:160999592C>T	ENST00000447678.1	-	28	4554	c.4434G>A	c.(4432-4434)gtG>gtA	p.V1478V	LPA_ENST00000316300.5_Silent_p.V1478V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3986	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAACCGGGGCCACTGTGGGAG	0.483000													25	144					0	0	1	0	0
ISG20	3669	broad.mit.edu	37	15	89195511	89195511	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:89195511G>A	ENST00000306072.5	+	3	757	c.399G>A	c.(397-399)ctG>ctA	p.L133L	ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_Silent_p.L133L	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	133					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TGCGGGTGCTGAGTGAGCGCC	0.627000													21	72					0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102987304	102987304	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:102987304T>A	ENST00000370193.2	-	2	1547	c.569A>T	c.(568-570)gAc>gTc	p.D190V		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	190					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		GGACTCTACGTCGGCCTTCAT	0.652000													17	68					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415194	105415194	+	Silent	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr14:105415194G>T	ENST00000333244.5	-	7	6713	c.6594C>A	c.(6592-6594)acC>acA	p.T2198T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2198						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)			TGAGGTCAGTGGTCTTGAGGT	0.642000													11	241					6.81908e-15	8.28228e-15	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133653612	133653612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:133653612C>T	ENST00000310926.4	-	14	2150	c.1877G>A	c.(1876-1878)tGg>tAg	p.W626*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.W550*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	626					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CTTCACCCTCCAGCTGATGAA	0.622000													14	59					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217276	56217276	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:56217276T>C	ENST00000357606.3	-	4	1713	c.1424A>G	c.(1423-1425)aAt>aGt	p.N475S	DNAJC14_ENST00000317287.5_Missense_Mutation_p.N475S|RP11-762I7.5_ENST00000546837.1_Silent_p.K104K|DNAJC14_ENST00000317269.3_Missense_Mutation_p.N475S			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	475	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGGATGATGATTTTTGTCAGG	0.438000													13	79					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375831	175375831	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:175375831G>T	ENST00000367674.1	-	3	728	c.20C>A	c.(19-21)aCa>aAa	p.T7K	TNR_ENST00000263525.2_Missense_Mutation_p.T7K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	7					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGAACCACTGTTTCCCCATC	0.542000													28	158					2.52637e-11	2.9263e-11	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113702274	113702274	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:113702274C>T	ENST00000297405.5	-	14	2222	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E556K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E660K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E620K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	660						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						CTTTCTTTCTCAATTTCTGGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	171					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150841027	150841027	+	Silent	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:150841027A>G	ENST00000397238.2	+	18	2733	c.2733A>G	c.(2731-2733)ctA>ctG	p.L911L	AGAP3_ENST00000463381.1_Silent_p.L580L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	875					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTAGCCTCCTATAAGGCCCAG	0.622000													16	61					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129801710	129801710	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:129801710G>A	ENST00000338144.3	-	9	1205	c.788C>T	c.(787-789)tCc>tTc	p.S263F	ENOX2_ENST00000370927.1_Missense_Mutation_p.S263F|ENOX2_ENST00000370935.1_Missense_Mutation_p.S234F|ENOX2_ENST00000394363.1_Missense_Mutation_p.S234F	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	263					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TGAGAATTTGGAATCATCTGA	0.413000													11	60					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957643	61957643	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:61957643G>T	ENST00000456543.2	-	5	728	c.688C>A	c.(688-690)Ctc>Atc	p.L230I	GH2_ENST00000423893.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	18						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GACCAGGAGAGGCACTGGGGA	0.537000													7	43					0.000274275	0.00028179	1	1	0
CDH23	64072	broad.mit.edu	37	10	73567308	73567308	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:73567308G>A	ENST00000224721.6	+	58	8364	c.8359G>A	c.(8359-8361)Gat>Aat	p.D2787N	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D542N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2782	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTGCAGCCCGATGGGTGTCT	0.627000													18	67					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533803	31533803	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr22:31533803C>A	ENST00000215885.3	-	4	1211	c.959G>T	c.(958-960)cGc>cTc	p.R320L		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	320					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TTTGCTGGGGCGCTTGGACCC	0.652000													43	256					3.40343e-31	4.42003e-31	1	1	0
PGM1	5236	broad.mit.edu	37	1	64059309	64059309	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:64059309G>A	ENST00000371084.3	+	1	363	c.150G>A	c.(148-150)gcG>gcA	p.A50A		NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	50					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGAGCCGGCGCAGCGGCAGG	0.662000													5	15					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49440208	49440208	+	Splice_Site	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:49440208C>T	ENST00000301067.7	-	16	4418		c.e16-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.?(2)									GGACACACACCTGATAGGAGC	0.572000													14	143					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132637221	132637221	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:132637221G>C	ENST00000315480.4	+	19	2193	c.2035G>C	c.(2035-2037)Gta>Cta	p.V679L	USP20_ENST00000372429.3_Missense_Mutation_p.V679L|USP20_ENST00000358355.1_Missense_Mutation_p.V679L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	679					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGAGGGCTACGTACTCTTCTA	0.612000													4	22					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625960	29625960	+	Silent	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:29625960A>G	ENST00000278882.3	+	5	584	c.204A>G	c.(202-204)gaA>gaG	p.E68E	FRG1B_ENST00000439954.2_Silent_p.E73E|FRG1B_ENST00000358464.4_Silent_p.E68E																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GACCAAGAGAACAATGGGAAC	0.333000													3	125					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42200514	42200514	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:42200514C>G	ENST00000541110.1	-	17	3811	c.3243G>C	c.(3241-3243)caG>caC	p.Q1081H	TRERF1_ENST00000354325.2_Missense_Mutation_p.Q978H|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q990H|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q1061H|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q990H			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1061	Interacts with CREBBP.				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)			AGTACCCACTCTGGGTGCCAC	0.627000													10	39					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34081918	34081918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:34081918C>T	ENST00000257209.4	+	4	483	c.361C>T	c.(361-363)Cga>Tga	p.R121*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.R121*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.R121*|FHOD3_ENST00000359247.4_Nonsense_Mutation_p.R121*	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	121	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTCCAGCGGACGAGATTTGAG	0.323000													4	24					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172303	64172303	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:64172303C>T	ENST00000262150.2	-	12	2357	c.2065G>A	c.(2065-2067)Ggc>Agc	p.G689S	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	689					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGTCGGGGCCAACTTGCAAA	0.498000													21	111					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720482	116720482	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:116720482C>G	ENST00000331677.3	+	3	513	c.69C>G	c.(67-69)taC>taG	p.Y23*	DSE_ENST00000452085.3_Nonsense_Mutation_p.Y23*|DSE_ENST00000537543.1_Nonsense_Mutation_p.Y42*|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Nonsense_Mutation_p.Y23*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	23					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGTCAGCCTACATCACCGACG	0.517000													14	71					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44278181	44278181	+	Splice_Site	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:44278181C>T	ENST00000244571.4	-	5	752		c.e5-1			NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial						alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ATCTGCCTCTCTGGCCAGGGA	0.622000													11	64					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621567	171621567	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:171621567G>T	ENST00000037502.5	-	1	244	c.185C>A	c.(184-186)cCa>cAa	p.P62Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	62					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GCTCTGCTCTGGGCAGCTGGA	0.577000													15	69					2.32078e-09	2.58824e-09	1	1	0
C22orf15	150248	broad.mit.edu	37	22	24107085	24107085	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr22:24107085G>C	ENST00000402217.3	+	5	684	c.431G>C	c.(430-432)aGa>aCa	p.R144T	C22orf15_ENST00000382821.3_Intron|C22orf15_ENST00000305199.5_Missense_Mutation_p.E146Q	NM_182520.2	NP_872326.2	Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	144										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				TCAAGGCCCAGAAAGGTGAGC	0.622000													11	81					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662768	57662768	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:57662768C>G	ENST00000402412.1	-	17	2202	c.1812G>C	c.(1810-1812)agG>agC	p.R604S	RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R285S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.R317S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R624S|R3HDM2_ENST00000393811.2_Missense_Mutation_p.R317S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R590S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.R590S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	590	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCATGCTGCTCCTCTGGCTGC	0.582000													21	211					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026422	197026422	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:197026422A>G	ENST00000367412.1	-	6	1022	c.979T>C	c.(979-981)Tgc>Cgc	p.C327R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	327	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAACCAATGCATTTTGGAGGT	0.368000													26	130					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016198	23016198	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:23016198T>A	ENST00000255008.3	+	1	142	c.78T>A	c.(76-78)agT>agA	p.S26R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	26					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAATGCCAGTAGCGCTCCGG	0.766000													8	27					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65146934	65146934	+	Silent	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:65146934G>C	ENST00000417511.2	-	8	1260	c.126C>G	c.(124-126)ctC>ctG	p.L42L	SLC25A45_ENST00000294187.6_Silent_p.L42L|SLC25A45_ENST00000534028.1_Silent_p.L60L|SLC25A45_ENST00000360662.3_Silent_p.L60L|SLC25A45_ENST00000377152.2_Intron|SLC25A45_ENST00000526432.1_Intron|SLC25A45_ENST00000398802.1_Silent_p.L84L|SLC25A45_ENST00000527174.1_Silent_p.L84L	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	84					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						AGGTGGCCGTGAGCACCAGCA	0.627000													15	78					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817722	13817722	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:13817722G>C	ENST00000265104.4	-	42	7027	c.6923C>G	c.(6922-6924)gCc>gGc	p.A2308G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2308	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCATTTGTGGCAACGTCCAG	0.393000									Kartagener syndrome				22	271					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52194950	52194950	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:52194950G>C	ENST00000371471.2	-	3	1831	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	ZNF217_ENST00000302342.3_Missense_Mutation_p.S469C			O75362	ZN217_HUMAN	zinc finger protein 217	469					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTCTCTTGAAGATGTAAGATG	0.284000													10	38					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110592173	110592173	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:110592173A>C	ENST00000399066.3	-	4	1307	c.580T>G	c.(580-582)Tca>Gca	p.S194A	SYBU_ENST00000422135.1_Missense_Mutation_p.S197A|SYBU_ENST00000419099.1_Missense_Mutation_p.S196A|SYBU_ENST00000408908.2_Missense_Mutation_p.S197A|SYBU_ENST00000533171.1_Missense_Mutation_p.S197A|SYBU_ENST00000440310.1_Missense_Mutation_p.S197A|SYBU_ENST00000408889.3_Missense_Mutation_p.S78A|SYBU_ENST00000446070.2_Missense_Mutation_p.S196A|SYBU_ENST00000528647.1_Missense_Mutation_p.S196A|SYBU_ENST00000528331.1_Missense_Mutation_p.S78A|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000533065.1_Missense_Mutation_p.S78A|SYBU_ENST00000529690.1_Missense_Mutation_p.S67A|SYBU_ENST00000533895.1_Missense_Mutation_p.S196A|SYBU_ENST00000532779.1_Missense_Mutation_p.S129A|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000276646.9_Missense_Mutation_p.S197A|SYBU_ENST00000424158.2_Missense_Mutation_p.S202A|SYBU_ENST00000433638.1_Missense_Mutation_p.S197A	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	197	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGCGGGGATGATGGGCTGCTG	0.517000													49	398					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174842	51174842	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:51174842G>T	ENST00000440970.1	-	2	1431	c.1000C>A	c.(1000-1002)Cca>Aca	p.P334T	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P431T|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	431					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGACATTTGGTGGCTTGCTT	0.498000													27	112					2.65835e-16	3.25512e-16	1	1	0
WDR27	253769	broad.mit.edu	37	6	170058428	170058428	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:170058428A>G	ENST00000333572.6	-	13	1865	c.1346T>C	c.(1345-1347)cTg>cCg	p.L449P	WDR27_ENST00000423258.1_Missense_Mutation_p.L322P|WDR27_ENST00000448612.1_Missense_Mutation_p.L449P|WDR27_ENST00000546525.1_5'UTR			A2RRH5	WDR27_HUMAN	WD repeat domain 27	419										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCCCAGATACAGTGGAGAGGT	0.507000													4	22					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116840411	116840411	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:116840411C>T	ENST00000265132.3	-	1	341	c.79G>A	c.(79-81)Gac>Aac	p.D27N		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	27					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGGATGTTGTCGGGCGGCGTT	0.632000													26	95					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124109530	124109530	+	Missense_Mutation	SNP	G	G	A	rs143777547	byFrequency	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:124109530G>A	ENST00000287380.1	+	6	770	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	TBC1D31_ENST00000522420.1_Missense_Mutation_p.R122Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R122Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R227Q|TBC1D31_ENST00000378080.2_Missense_Mutation_p.R122Q|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R227Q	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AGAGATGGCCGAATCCTGGCT	0.423000													4	134					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131810799	131810799	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:131810799C>T	ENST00000277475.5	+	4	587	c.401C>T	c.(400-402)tCc>tTc	p.S134F	FAM73B_ENST00000406926.2_Missense_Mutation_p.S134F|FAM73B_ENST00000358369.4_Missense_Mutation_p.S134F			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	134	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CACTCGGGCTCCTCCCACAGT	0.627000													30	80					0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34740211	34740211	+	Silent	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:34740211T>A	ENST00000591619.1	+	8	2055	c.1269T>A	c.(1267-1269)tcT>tcA	p.S423S	KIAA1328_ENST00000543923.1_Silent_p.S319S|KIAA1328_ENST00000586135.1_Silent_p.S179S|KIAA1328_ENST00000435985.2_Silent_p.S179S|KIAA1328_ENST00000280020.5_Silent_p.S427S			Q86T90	K1328_HUMAN	KIAA1328	427										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CATCATCATCTATTAAAAAGC	0.438000													5	26					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31233896	31233896	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:31233896A>G	ENST00000435680.1	-	16	2208	c.2111T>C	c.(2110-2112)cTg>cCg	p.L704P	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	704							phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GCAGGCCTCCAGGGGGCCACT	0.632000													4	22					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192128397	192128397	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:192128397A>C	ENST00000367460.3	+	2	348	c.167A>C	c.(166-168)gAg>gCg	p.E56A	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	56					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAAACCTGAGTTTCATGAA	0.373000													3	25					0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570234	198570234	+	Silent	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:198570234T>C	ENST00000282276.6	+	1	148	c.105T>C	c.(103-105)agT>agC	p.S35S	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	35					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCTCCCTCAGTGCCGGCGATG	0.622000													13	74					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432979	67432979	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:67432979C>T	ENST00000349015.3	-	7	921	c.483G>A	c.(481-483)caG>caA	p.Q161Q	ALDH3B2_ENST00000530069.1_Silent_p.Q161Q	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	161					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CCACGCAGGTCTGGCCGGCAT	0.657000													16	200					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86659176	86659176	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:86659176C>T	ENST00000456692.2	+	11	1049	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	RASA1_ENST00000274376.6_Missense_Mutation_p.R489C|RASA1_ENST00000512763.1_Missense_Mutation_p.R322C|RASA1_ENST00000506290.1_Missense_Mutation_p.R323C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	489	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAAAGGAAAACGTTGGAAAAA	0.274000													7	27					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15725811	15725811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:15725811G>A	ENST00000262041.5	-	1	626	c.217C>T	c.(217-219)Cac>Tac	p.H73Y		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	73	Poly-His.				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		tggtggtggtggtggtggtgg	0.602000													4	10					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890988	32890988	+	RNA	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:32890988G>T	ENST00000330048.5	-	0	2978					NR_003083.2																						GCCAGAGCAGGGTGGTGCCAC	0.627000													14	74					2.37509e-13	2.83876e-13	1	1	0
MAP4K1	11184	broad.mit.edu	37	19	39090578	39090578	+	Silent	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:39090578G>C	ENST00000591517.1	-	22	1684	c.1656C>G	c.(1654-1656)ctC>ctG	p.L552L	MAP4K1_ENST00000396857.2_Silent_p.L552L|MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Silent_p.L548L|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	552	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGAGACATGAGAACGTTGT	0.592000													39	294					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152129472	152129472	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:152129472G>C	ENST00000440973.1	+	3	795	c.425G>C	c.(424-426)cGc>cCc	p.R142P	ESR1_ENST00000443427.1_Missense_Mutation_p.R142P|ESR1_ENST00000338799.5_Missense_Mutation_p.R142P|ESR1_ENST00000206249.3_Missense_Mutation_p.R142P|ESR1_ENST00000456483.2_Missense_Mutation_p.R142P|ESR1_ENST00000406599.1_Missense_Mutation_p.R142P	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	142	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TACACGGTGCGCGAGGCCGGC	0.741000													2	11					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148750110	148750110	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:148750110T>C	ENST00000310053.5	-	25	3120	c.2927A>G	c.(2926-2928)aAa>aGa	p.K976R	HLTF_ENST00000494055.1_Missense_Mutation_p.K976R|HLTF_ENST00000465259.1_Missense_Mutation_p.K975R|HLTF_ENST00000392912.2_Missense_Mutation_p.K976R	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	976	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTCTCTTTTTGTTTTGTAT	0.284000													6	36					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:33576343G>A	ENST00000504830.1	-	19	4123	c.3788C>T	c.(3787-3789)aCg>aTg	p.T1263M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1263	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1263M(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACGGTTTGCCGTCTTTCCTGA	0.502000										HNSCC(64;0.19)			35	362					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30012081	30012081	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:30012081G>A	ENST00000346128.6	-	20	3377	c.2903C>T	c.(2902-2904)tCa>tTa	p.S968L	TJP1_ENST00000356107.6_Missense_Mutation_p.S968L|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	968					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGCTTGTGGTGAGTAAGAGGT	0.433000													16	79					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072483	75072483	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:75072483C>A	ENST00000326665.5	-	10	1509	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	C1orf173_ENST00000420661.2_Missense_Mutation_p.V234L|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	431	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTCCTCACTTTCCCCTCA	0.403000													29	131					1.88708e-17	2.32973e-17	1	1	0
OR8K3	219473	broad.mit.edu	37	11	56085899	56085899	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:56085899G>A	ENST00000312711.1	+	1	117	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGATCTCAGTGATGGGCAATT	0.433000													31	148					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83557803	83557803	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr4:83557803C>A	ENST00000319540.4	-	4	1062	c.743G>T	c.(742-744)cGg>cTg	p.R248L		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	248					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GTCATAGGGCCGGTTTCCATA	0.562000													17	104					2.32416e-17	2.85757e-17	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100283669	100283669	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:100283669C>T	ENST00000275732.5	-	9	2191	c.982G>A	c.(982-984)Gag>Aag	p.E328K	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	328										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					AAGTCCAGCTCCTGCTCCTCA	0.677000													11	71					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919491	21919491	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:21919491C>T	ENST00000240662.2	-	3	786	c.441G>A	c.(439-441)atG>atA	p.M147I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	147						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCTCTGTCATCATCCTCCCTC	0.413000													8	57					0	0	1	0	0
LPPR3	79948	broad.mit.edu	37	19	812944	812944	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:812944G>A	ENST00000359894.2	-	7	1930	c.1867C>T	c.(1867-1869)Ctg>Ttg	p.L623L	LPPR3_ENST00000520876.3_Silent_p.L595L	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		595						integral to membrane	phosphatidate phosphatase activity										CCGGCCGACAGGTGCACCACG	0.771000													3	6					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112326	248112326	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:248112326C>A	ENST00000357191.3	+	1	167	c.167C>A	c.(166-168)aCa>aAa	p.T56K	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCTCCACACACCCATGTAT	0.413000													69	467					2.35699e-46	3.1013e-46	1	1	0
MCRS1	10445	broad.mit.edu	37	12	49958272	49958272	+	Silent	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:49958272G>T	ENST00000550165.1	-	7	815	c.549C>A	c.(547-549)gtC>gtA	p.V183V	MCRS1_ENST00000357123.4_Silent_p.V196V|MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000343810.4_Silent_p.V183V			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	183					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						ACTTGGAGATGACAGGATCGT	0.607000													3	23					0.004672	0.00471919	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151970796	151970796	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:151970796C>T	ENST00000355193.2	-	7	1224	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E336K					lysine (K)-specific methyltransferase 2C																		TTACATCTTTCAGGAGCTTGG	0.383000													7	351					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440175	135440175	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:135440175G>A	ENST00000443774.1	-	1	121	c.72C>T	c.(70-72)ttC>ttT	p.F24F	FRG2B_ENST00000425520.1_Silent_p.F24F			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	24						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AGATCTGTTGGAAAGGGGGCT	0.493000													71	211					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50666258	50666258	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:50666258G>A	ENST00000268459.3	+	9	986	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	254					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGAACATCGAGAGGAGAAACC	0.557000													3	63					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364323	22364323	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:22364323T>C	ENST00000397121.2	-	3	513	c.196A>G	c.(196-198)Atg>Gtg	p.M66V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCAATATCATTTTTTGGAAA	0.303000													8	27					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	470440	470440	+	Missense_Mutation	SNP	T	T	C	rs61730060		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:470440T>C	ENST00000217244.3	-	10	1082	c.707A>G	c.(706-708)cAt>cGt	p.H236R	CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	236	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	p.H236R(2)		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)			ATAATTGTCATGTCCATGGAA	0.373000													4	77					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:27620945G>T	ENST00000225388.4	-	1	191	c.133C>A	c.(133-135)Cac>Aac	p.H45N	NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	45	His-rich.					nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.587000													6	190					0.000157383	0.000164512	1	1	0
IFNAR2	3455	broad.mit.edu	37	21	34635344	34635344	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr21:34635344G>A	ENST00000342136.4	+	9	1413	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.E363K|IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	363					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GATAGACCCGGAGTCCGAGGA	0.597000													20	117					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	121					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632513	3632513	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:3632513G>A	ENST00000294008.3	-	15	5975	c.5335C>T	c.(5335-5337)Cgg>Tgg	p.R1779W	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1779	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGCAGCTCCCGCAGCTCAAAG	0.647000								Direct reversal of damage					70	126					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124798768	124798768	+	Silent	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:124798768A>G	ENST00000334705.7	+	12	1242	c.996A>G	c.(994-996)tcA>tcG	p.S332S	FAM91A1_ENST00000521166.1_Silent_p.S332S	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	332										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTCTTGTCATGGGATGGAG	0.373000													44	121					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886294	45886294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:45886294C>A	ENST00000007414.3	-	21	2424	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*	OSBPL7_ENST00000392507.3_Nonsense_Mutation_p.E745*	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	745					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTGTCAGCTCATTCAGCTCC	0.617000													75	161					2.72187e-29	3.48957e-29	1	1	0
DSCC1	79075	broad.mit.edu	37	8	120865389	120865389	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:120865389C>T	ENST00000313655.4	-	2	463	c.249G>A	c.(247-249)ttG>ttA	p.L83L		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	83					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTGCTATCTTCAAGTCGTATG	0.388000													32	78					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268479	1268479	+	Silent	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:1268479C>A	ENST00000447027.1	+	31	10436	c.10378C>A	c.(10378-10380)Cgg>Agg	p.R3460R	MUC5B_ENST00000529681.1_Silent_p.R3457R|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3457	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACACGGGCGGTCCCTGCC	0.677000													17	88					2.35188e-11	2.75611e-11	1	1	0
CRYBG3	131544	broad.mit.edu	37	3	97596853	97596853	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:97596853G>T	ENST00000182096.4	+	1	1035	c.971G>T	c.(970-972)aGc>aTc	p.S324I		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTTCAAGACAGCCCAGGCAGA	0.363000													27	129					1.57351e-24	1.98342e-24	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32634979	32634979	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:32634979A>C	ENST00000242310.4	-	1	688	c.599T>G	c.(598-600)gTg>gGg	p.V200G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	200					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTGAAATCCACTTTCTCTGA	0.473000													19	98					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535756	141535756	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:141535756C>T	ENST00000264952.2	+	4	1663	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	509	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AAAAACTTTGCGACAGGTGCT	0.448000													43	218					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48314742	48314742	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:48314742C>T	ENST00000435803.1	+	17	5503	c.5479C>T	c.(5479-5481)Cac>Tac	p.H1827Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1827					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						GTGCTGGAATCACACAAATTC	0.383000													6	24					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202899757	202899757	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:202899757G>A	ENST00000286201.1	+	1	448	c.387G>A	c.(385-387)caG>caA	p.Q129Q		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	129	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCGCCCGCCAGGGCTGCGAGG	0.662000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	89					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78318459	78318459	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr13:78318459A>G	ENST00000466548.1	+	4	768	c.742A>G	c.(742-744)Atc>Gtc	p.I248V	SLAIN1_ENST00000488699.1_Missense_Mutation_p.I106V|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000358679.3_5'UTR|SLAIN1_ENST00000351546.3_5'UTR|SLAIN1_ENST00000418532.1_Missense_Mutation_p.I29V|SLAIN1_ENST00000267219.8_Missense_Mutation_p.I29V|SLAIN1_ENST00000314070.5_5'UTR	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	248										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CCAGTCATCTATCGACAGTGA	0.453000													3	83					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174841	51174841	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:51174841G>A	ENST00000440970.1	-	2	1432	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P431L|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	431					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTGACATTTGGTGGCTTGCT	0.498000													28	115					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52824403	52824403	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:52824403G>A	ENST00000252245.5	-	5	1177	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	319	Linker 12.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTCGGCGATGATACTATCCA	0.582000													42	224					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207655368	207655368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:207655368G>A	ENST00000236980.6	+	11	2319	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	FASTKD2_ENST00000402774.3_Missense_Mutation_p.M657I|FASTKD2_ENST00000403094.3_Missense_Mutation_p.M657I	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	657	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TCCTTGCTATGAAAATGCGGC	0.358000													34	195					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045057	16045057	+	Silent	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:16045057G>T	ENST00000326742.7	-	1	163	c.162C>A	c.(160-162)ccC>ccA	p.P54P	CYP4F11_ENST00000248041.7_Silent_p.P54P|CYP4F11_ENST00000402119.3_Silent_p.P54P			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	54					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						TCTGTTTCGGGGGTTGAGGAA	0.602000													26	116					8.4185e-14	1.01428e-13	1	1	0
ERBB3	2065	broad.mit.edu	37	12	56488239	56488239	+	Silent	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:56488239G>C	ENST00000267101.3	+	15	2198	c.1758G>C	c.(1756-1758)gtG>gtC	p.V586V	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Silent_p.V527V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	586					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCACTGTGTGAGCAGCTGCC	0.537000													17	166					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249107240	249107240	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:249107240C>A	ENST00000366472.5	-	6	1888	c.659G>T	c.(658-660)gGc>gTc	p.G220V	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.G188V	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	220										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCGGCTCTTGCCGATGGCCCT	0.652000													11	86					0.00829132	0.00834696	1	1	0
VANGL1	81839	broad.mit.edu	37	1	116206699	116206699	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:116206699A>G	ENST00000355485.2	+	4	893	c.622A>G	c.(622-624)Att>Gtt	p.I208V	VANGL1_ENST00000369509.1_Missense_Mutation_p.I208V|VANGL1_ENST00000369510.3_Missense_Mutation_p.I206V|VANGL1_ENST00000310260.3_Missense_Mutation_p.I208V	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	208					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGGGGTCCGCATTTTGGACTC	0.517000													28	147					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127837038	127837038	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:127837038C>T	ENST00000556132.1	-	2	1586	c.722G>A	c.(721-723)gGc>gAc	p.G241D	SOGA3_ENST00000368268.2_Missense_Mutation_p.G241D|SOGA3_ENST00000525778.1_Missense_Mutation_p.G241D|SOGA3_ENST00000465909.2_Missense_Mutation_p.G241D|SOGA3_ENST00000481848.2_Missense_Mutation_p.G241D	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	241	Gly-rich.					integral to membrane											ACCGCTGCCGCCCCCCGCAAC	0.672000													8	51					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75676095	75676095	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:75676095G>A	ENST00000393284.3	-	16	1510	c.909C>T	c.(907-909)ggC>ggT	p.G303G	CAPS2_ENST00000442339.2_Silent_p.G125G|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Silent_p.G535G|CAPS2_ENST00000409799.1_Silent_p.G453G			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	535							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TAGGCACACTGCCACTTTTGT	0.323000													23	156					0	0	1	0	0
APOBEC4	403314	broad.mit.edu	37	1	183617680	183617680	+	Silent	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:183617680C>A	ENST00000308641.4	-	2	508	c.237G>T	c.(235-237)gtG>gtT	p.V79V	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.3_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	79					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GGCCCTTTTGCACCAGGCTAC	0.378000													20	72					1.10513e-12	1.31043e-12	1	1	0
FLT4	2324	broad.mit.edu	37	5	180057229	180057229	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:180057229C>T	ENST00000261937.6	-	4	587	c.509G>A	c.(508-510)cGc>cAc	p.R170H	FLT4_ENST00000502649.1_Missense_Mutation_p.R170H|FLT4_ENST00000393347.3_Missense_Mutation_p.R170H|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	170	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTACCGAGCGCAGCGTGAC	0.652000													16	69					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740190	62740190	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:62740190C>T	ENST00000371153.4	-	3	964	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	196	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACACTGCCTTCACCCTGAAGG	0.627000													15	69					0	0	1	0	0
RNF113A	7737	broad.mit.edu	37	X	119005192	119005192	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:119005192C>T	ENST00000371442.2	-	1	599	c.385G>A	c.(385-387)Gat>Aat	p.D129N		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	129							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GCTTGTGCATCGCGCTCTTTC	0.522000													127	464					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055330	72055330	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr14:72055330C>T	ENST00000555818.1	+	2	1089	c.741C>T	c.(739-741)ctC>ctT	p.L247L	SIPA1L1_ENST00000358550.2_Silent_p.L247L|SIPA1L1_ENST00000381232.3_Silent_p.L247L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	247					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)		GTGACTTTCTCATTACTGGTG	0.433000													21	74					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10303717	10303717	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:10303717G>C	ENST00000403437.2	-	27	3819	c.3725C>G	c.(3724-3726)tCc>tGc	p.S1242C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1242					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						CTTGGCTTTGGAAATGGCCTC	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				81	148					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	24					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393702	232393702	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:232393702G>A	ENST00000305141.4	-	2	163	c.30C>T	c.(28-30)gtC>gtT	p.V10V		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTCCAGGGAGGACAGAGCAAT	0.572000													6	50					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156617896	156617896	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:156617896C>T	ENST00000329117.4	+	5	1099	c.763C>T	c.(763-765)Cta>Tta	p.L255L	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.L255L	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	255					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTGAAGACCTAAATGGTGA	0.552000													25	183					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7038884	7038884	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:7038884G>T	ENST00000389658.3	-	11	1581	c.1488C>A	c.(1486-1488)aaC>aaA	p.N496K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCCCGGGGGTTTTTTTCCT	0.537000													27	129					2.48779e-11	2.89278e-11	1	1	0
HTR7	3363	broad.mit.edu	37	10	92509292	92509292	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:92509292G>A	ENST00000371721.3	-	2	841	c.599C>T	c.(598-600)gCg>gTg	p.A200V	HTR7_ENST00000371719.2_Missense_Mutation_p.A200V|HTR7_ENST00000277874.6_Missense_Mutation_p.A200V|HTR7_ENST00000336152.3_Missense_Mutation_p.A200V			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	200					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AATCATCTTCGCCATGCATTT	0.493000													56	147					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	68					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184795	130184795	+	Silent	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:130184795G>C	ENST00000422113.2	-	2	854	c.528C>G	c.(526-528)acC>acG	p.T176T		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	176						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCACCTCTCGGGTCTCTCGGA	0.672000													6	35					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55033082	55033082	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:55033082C>A	ENST00000417545.2	+	3	552	c.466C>A	c.(466-468)Ctt>Att	p.L156I		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	140						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCAGGAGAAGCTTTTAAAGAA	0.413000													7	34					0.000673444	0.000684858	1	1	0
DKK1	22943	broad.mit.edu	37	10	54076072	54076072	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:54076072G>C	ENST00000373970.3	+	3	563	c.424G>C	c.(424-426)Gat>Cat	p.D142H	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	142					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGTGTCTTCTGATCAAAATCA	0.418000													6	86					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127434468	127434468	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:127434468T>G	ENST00000337623.3	+	18	2786	c.2681T>G	c.(2680-2682)tTt>tGt	p.F894C	RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.F928C|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	928					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)				AAACGTGAATTTTCACCAGAA	0.458000													37	108					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844949	123844949	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:123844949C>T	ENST00000369005.1	+	4	3274	c.2934C>T	c.(2932-2934)ttC>ttT	p.F978F	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.F978F|TACC2_ENST00000453444.2_Silent_p.F978F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.F978F|TACC2_ENST00000515273.1_Silent_p.F978F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	978						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGGAACTTCAGCAGAAAGG	0.547000													7	76					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35606111	35606111	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:35606111C>T	ENST00000287272.2	+	11	1646	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	UNC5D_ENST00000416672.1_Silent_p.I616I|UNC5D_ENST00000453357.2_Silent_p.I606I|UNC5D_ENST00000404895.2_Silent_p.I611I|UNC5D_ENST00000420357.1_Silent_p.I544I|UNC5D_ENST00000449677.1_Silent_p.I187I			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	611	ZU5.				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)		CAGACATGATCGTCACCACTC	0.493000													29	198					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69934130	69934130	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:69934130G>C	ENST00000358913.5	+	11	2769	c.2281G>C	c.(2281-2283)Gaa>Caa	p.E761Q	MYPN_ENST00000540630.1_Missense_Mutation_p.E761Q|MYPN_ENST00000354393.2_Missense_Mutation_p.E486Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	761						nucleus|sarcomere	actin binding	p.E761*(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTGAGCAAAGAAAGCCTCTT	0.547000													12	139					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79840388	79840388	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:79840388C>A	ENST00000351004.3	+	6	1067	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	GNAI1_ENST00000457358.2_Missense_Mutation_p.L180M	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	232					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TGACTACGACCTGGTTCTAGC	0.438000													3	58					1	1	1	1	0
ZAN	7455	broad.mit.edu	37	7	100350047	100350047	+	RNA	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:100350047C>T	ENST00000542585.1	+	0	2467				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACTCACCATCCCCA	0.542000													29	142					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101835726	101835726	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:101835726G>A	ENST00000370418.3	-	2	613	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	121	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTGAATGCGCGTGTCCTGGAT	0.612000													4	88					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112794	248112794	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:248112794G>C	ENST00000357191.3	+	1	635	c.635G>C	c.(634-636)gGt>gCt	p.G212A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G212A(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCCTTCATTGGTATTTCATGT	0.498000													4	101					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885885	88885885	+	Silent	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:88885885T>A	ENST00000319675.3	-	1	411	c.315A>T	c.(313-315)cgA>cgT	p.R105R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	105										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCGTCAGGCCTCGCATGGTGA	0.537000													33	177					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272287	1272287	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:1272287C>A	ENST00000447027.1	+	31	14244	c.14186C>A	c.(14185-14187)tCc>tAc	p.S4729Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4726Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4726	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccacttcctcctccaGTCCA	0.602000													8	155					0.00307968	0.0031213	1	1	0
PLCG2	5336	broad.mit.edu	37	16	81892727	81892727	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:81892727G>A	ENST00000359376.3	+	5	652	c.438G>A	c.(436-438)ctG>ctA	p.L146L	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	146					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAGTTGGCTGAGAAAGCAGA	0.353000													4	43					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106311206	106311206	+	RNA	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr14:106311206C>G	ENST00000390556.2	-	0	356																											GCGAGGCTGCCCTCTGCTTGG	0.617000													6	9					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140777252	140777252	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:140777252C>T	ENST00000371372.1	+	3	592	c.447C>T	c.(445-447)atC>atT	p.I149I	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.I149I|CACNA1B_ENST00000277551.2_Silent_p.I149I|CACNA1B_ENST00000371355.4_Silent_p.I149I|CACNA1B_ENST00000371363.1_Silent_p.I149I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	149					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGATCAAAATCATCGCTCTGG	0.582000													17	159					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17743934	17743934	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:17743934C>T	ENST00000380060.3	+	6	1983	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	NHS_ENST00000398097.3_Missense_Mutation_p.H393Y	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	549						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCAACATCTTCACAGCCCCCA	0.552000													19	104					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17741496	17741496	+	Silent	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:17741496C>A	ENST00000428389.2	-	30	3755	c.3756G>T	c.(3754-3756)ctG>ctT	p.L1252L	UNC13A_ENST00000519716.2_Silent_p.L1164L|UNC13A_ENST00000552293.1_Silent_p.L1164L|UNC13A_ENST00000551649.1_Silent_p.L1164L|UNC13A_ENST00000252773.7_Silent_p.L1164L|UNC13A_ENST00000550896.1_Silent_p.L1162L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1164					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						GGGCACCGTGCAGGAAATCCC	0.552000													13	123					0.000219431	0.000228574	1	1	0
LHB	3972	broad.mit.edu	37	19	49519334	49519334	+	Silent	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:49519334G>C	ENST00000221421.2	-	3	416	c.417C>G	c.(415-417)ctC>ctG	p.L139L		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	139					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	TTTAGAGGAAGAGGAGGCCTG	0.617000													17	93					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254458	18254458	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:18254458G>T	ENST00000377369.2	+	4	863	c.590G>T	c.(589-591)aGt>aTt	p.S197I	SLC39A12_ENST00000377374.4_Missense_Mutation_p.S197I|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S63I|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S197I	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	197					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATAGTGAGCAGTGAAGGTGCT	0.403000													19	87					2.79863e-10	3.21682e-10	1	1	0
CKAP4	10970	broad.mit.edu	37	12	106633080	106633080	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:106633080G>T	ENST00000378026.4	-	2	1667	c.1531C>A	c.(1531-1533)Cac>Aac	p.H511N		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	511						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGCAGCGTGTGCACCTGCTCC	0.607000													18	78					1.2644e-06	1.35005e-06	1	1	0
NUP107	57122	broad.mit.edu	37	12	69121134	69121134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:69121134G>T	ENST00000229179.4	+	20	2031	c.1699G>T	c.(1699-1701)Gaa>Taa	p.E567*	NUP107_ENST00000539906.1_Nonsense_Mutation_p.E538*|NUP107_ENST00000378905.2_Nonsense_Mutation_p.E416*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	567					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGAAGGAGGAAGTTTCTAT	0.239000													14	81					3.32936e-07	3.61887e-07	1	1	0
MRGBP	55257	broad.mit.edu	37	20	61430905	61430905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:61430905C>A	ENST00000370487.3	+	5	596	c.525C>A	c.(523-525)gaC>gaA	p.D175E		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein									p.D175E(1)									AAGGCGCAGACAAGCGGAAGC	0.552000													20	150					1.33834e-09	1.50375e-09	1	1	0
CYP11B2	1585	broad.mit.edu	37	8	143999044	143999044	+	Silent	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:143999044G>T	ENST00000323110.2	-	1	215	c.213C>A	c.(211-213)acC>acA	p.T71T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	71					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCCTGGAAGGTCTGGTGCA	0.632000									Familial Hyperaldosteronism type I				40	83					1.62957e-23	2.04549e-23	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64967818	64967818	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:64967818T>C	ENST00000399262.2	-	10	3829	c.3611A>G	c.(3610-3612)cAt>cGt	p.H1204R	JMJD1C_ENST00000402544.1_Missense_Mutation_p.H985R|JMJD1C_ENST00000399251.1_Missense_Mutation_p.H985R|JMJD1C_ENST00000542921.1_Missense_Mutation_p.H1022R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1204					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGGTGCTCTATGTAATGCAGG	0.443000													12	114					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109052	36109052	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:36109052G>C	ENST00000203166.5	+	10	801	c.776G>C	c.(775-777)cGg>cCg	p.R259P	HAUS5_ENST00000379045.2_Missense_Mutation_p.R259P	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	259					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCAGAGATTCGGTCCCTGTGC	0.632000													17	132					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131519960	131519960	+	Silent	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:131519960G>C	ENST00000423981.1	+	2	425	c.315G>C	c.(313-315)acG>acC	p.T105T	AMER3_ENST00000321420.4_Silent_p.T105T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCAGGGCCACGGCTGCCACAG	0.662000													6	27					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:36018407T>C	ENST00000452271.2	-	1	805	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000													3	7					0	0	1	0	0
TRBJ2-6	28623	broad.mit.edu	37	7	142494957	142494957	+	RNA	SNP	A	A	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:142494957A>T	ENST00000390418.1	+	0	35																											CGGGGCCGGCAGCAGGCTGAC	0.736000													11	60					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19965103	19965103	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr22:19965103C>T	ENST00000263207.3	-	9	1996	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	ARVCF_ENST00000406522.1_Missense_Mutation_p.E506K|ARVCF_ENST00000406259.1_Missense_Mutation_p.E569K|ARVCF_ENST00000401994.1_Missense_Mutation_p.E506K|ARVCF_ENST00000344269.3_Missense_Mutation_p.E506K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	569					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACGCAGTTCTCCACCGACTGC	0.677000													28	90					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48746778	48746778	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:48746778C>T	ENST00000314191.2	-	60	8184	c.8128G>A	c.(8128-8130)Gag>Aag	p.E2710K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2710K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2711	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTATCCACCTCGTCCCCTGGA	0.493000								Non-homologous end-joining					56	463					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835590	247835590	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:247835590C>A	ENST00000359688.2	-	1	775	c.754G>T	c.(754-756)Gta>Tta	p.V252L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGTAGATTACAGGAGAATAG	0.458000													21	85					2.48779e-11	2.89278e-11	1	1	0
HLTF	6596	broad.mit.edu	37	3	148768041	148768041	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:148768041T>C	ENST00000310053.5	-	15	1788	c.1595A>G	c.(1594-1596)aAt>aGt	p.N532S	HLTF_ENST00000494055.1_Missense_Mutation_p.N532S|HLTF_ENST00000465259.1_Missense_Mutation_p.N531S|HLTF_ENST00000392912.2_Missense_Mutation_p.N532S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	532	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGTTAAAATATTATACGTAGT	0.308000													15	75					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	24					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:7577018C>A	ENST00000420246.2	-	8	1052		c.e8+1		TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTGCTTACCTCGCTTAGT	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			37	91					1.34996e-11	1.58819e-11	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752684	62752684	+	RNA	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:62752684T>A	ENST00000331425.6	-	0	751					NR_003952.1																						GTATGAATTCTCTTATGTCTA	0.423000													8	26					0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517333	158517333	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:158517333G>A	ENST00000302617.3	-	1	562	c.563C>T	c.(562-564)cCa>cTa	p.P188L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTTAAGGAGTGGAGAGATATC	0.458000													7	44					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97920367	97920367	+	RNA	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:97920367G>A	ENST00000534948.1	+	0	5143							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAAAGACAAGCAAAAACAAT	0.308000													5	50					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957644	61957644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:61957644G>T	ENST00000456543.2	-	5	727	c.687C>A	c.(685-687)tgC>tgA	p.C229*	GH2_ENST00000423893.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	17						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACCAGGAGAGGCACTGGGGAG	0.542000													7	43					0.000274275	0.00028179	1	1	0
C12orf40	283461	broad.mit.edu	37	12	40076762	40076762	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:40076762A>G	ENST00000324616.5	+	8	1190	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	C12orf40_ENST00000405531.3_Missense_Mutation_p.I346V|C12orf40_ENST00000398716.1_Missense_Mutation_p.I269V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	346										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGACAGATGCATTAGAAACAT	0.328000													10	41					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72959399	72959399	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:72959399G>T	ENST00000262209.4	-	16	2156	c.1949C>A	c.(1948-1950)tCc>tAc	p.S650Y	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	650						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTCTCGGCAGGACTTGTCTTC	0.289000													16	105					1.67942e-08	1.8523e-08	1	1	0
SUZ12P1	440423	broad.mit.edu	37	17	29061824	29061824	+	RNA	SNP	C	C	T	rs147619741	by1000genomes	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:29061824C>T	ENST00000582557.1	+	0	744																											TAGCAGATGACAAGTTTATAT	0.308000													3	14					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107310331	107310331	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:107310331C>A	ENST00000415430.3	+	4	648	c.487C>A	c.(487-489)Caa>Aaa	p.Q163K	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Missense_Mutation_p.Q127K	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	127	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CTTTCTCGGCCAAAACCAAGG	0.448000													5	275					5.9392e-07	6.40921e-07	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83129556	83129556	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:83129556C>A	ENST00000329312.4	+	4	1877	c.1840C>A	c.(1840-1842)Cct>Act	p.P614T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	614	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGCTTGTGAGCCTTCTCTACC	0.433000													6	61					1.26484e-09	1.42652e-09	1	1	0
MCF2	4168	broad.mit.edu	37	X	138671999	138671999	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:138671999C>A	ENST00000520602.1	-	23	2830	c.2545G>T	c.(2545-2547)Gtc>Ttc	p.V849F	MCF2_ENST00000338585.6_Missense_Mutation_p.V805F|MCF2_ENST00000370576.4_Missense_Mutation_p.V789F|MCF2_ENST00000370573.4_Missense_Mutation_p.V789F|MCF2_ENST00000536274.1_Missense_Mutation_p.V750F|MCF2_ENST00000414978.1_Missense_Mutation_p.V849F|MCF2_ENST00000370578.4_Missense_Mutation_p.V934F|MCF2_ENST00000519895.1_Missense_Mutation_p.V865F			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	789					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCAACCTGGACAATATAAACT	0.313000													15	76					5.35267e-07	5.79711e-07	1	1	0
FFAR3	2865	broad.mit.edu	37	19	35850481	35850481	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:35850481C>G	ENST00000327809.4	+	2	890	c.689C>G	c.(688-690)aCg>aGg	p.T230R	FFAR3_ENST00000594310.1_Missense_Mutation_p.T230R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	230						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)			TTGGCGGCCACGCTGCTCAAC	0.632000													21	166					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96163324	96163324	+	Silent	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:96163324C>T	ENST00000225235.4	+	1	1064	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	318						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GTGGCGGCTTCGCGGACTTCT	0.776000													3	15					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133769249	133769249	+	Splice_Site	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:133769249G>A	ENST00000367895.5	+	5	673	c.208_splice	c.e5-1	p.G70_splice	EYA4_ENST00000531901.1_Splice_Site_p.G70_splice|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Splice_Site_p.G70_splice|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000431403.2_Splice_Site_p.G70_splice|EYA4_ENST00000430974.2_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	70					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTGTTCTCAGGGGAAAACATG	0.423000													12	60					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635629	34635629	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr21:34635629G>A	ENST00000342136.4	+	9	1698	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.D458N|IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	458					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGAGATGGTTGACCCAGAGGA	0.512000													65	326					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166929200	166929200	+	Splice_Site	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr4:166929200G>T	ENST00000061240.2	+	7	1564	c.917_splice	c.e7+1	p.R306_splice	TLL1_ENST00000507499.1_Splice_Site_p.R306_splice|TLL1_ENST00000513213.1_Splice_Site_p.R306_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	306	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R306M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACCTTCTCAAGGTTGGAGTCT	0.398000													11	74					3.07112e-06	3.26715e-06	1	1	0
CDC25B	994	broad.mit.edu	37	20	3782985	3782985	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:3782985G>C	ENST00000245960.5	+	11	1853	c.1156G>C	c.(1156-1158)Gac>Cac	p.D386H	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.D295H|CDC25B_ENST00000439880.2_Missense_Mutation_p.D372H|CDC25B_ENST00000344256.6_Missense_Mutation_p.D322H|CDC25B_ENST00000340833.4_Missense_Mutation_p.D345H	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	386					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GAACCTCCTGGACAGTGACCA	0.567000													11	90					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69121133	69121133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:69121133G>T	ENST00000229179.4	+	20	2030	c.1698G>T	c.(1696-1698)gaG>gaT	p.E566D	NUP107_ENST00000539906.1_Missense_Mutation_p.E537D|NUP107_ENST00000378905.2_Missense_Mutation_p.E415D	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	566					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTATGAAGGAGGAAGTTTCTA	0.234000													14	81					3.32936e-07	3.61887e-07	1	1	0
ANXA4	307	broad.mit.edu	37	2	70052627	70052627	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:70052627C>G	ENST00000394295.4	+	13	1194	c.946C>G	c.(946-948)Ctc>Gtc	p.L316V	ANXA4_ENST00000536030.1_Missense_Mutation_p.L232V|ANXA4_ENST00000409920.1_Missense_Mutation_p.L294V	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	314					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACTGCTTGTTCTCTGTGGAGG	0.348000													15	76					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241753533	241753533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:241753533G>T	ENST00000366559.4	+	14	1539	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	KMO_ENST00000366558.3_Nonsense_Mutation_p.E397*|KMO_ENST00000366557.4_Nonsense_Mutation_p.E376*	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	410					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGATACCATGAGGCTGTGCA	0.323000													25	120					7.53681e-25	9.54027e-25	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433891	73433891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:73433891C>A	ENST00000263666.4	-	10	1940	c.1826G>T	c.(1825-1827)aGc>aTc	p.S609I	PDZRN3_ENST00000462146.2_Missense_Mutation_p.S266I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S266I|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S331I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S326I	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	609							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGTCCTGGCTGCAGGTGAG	0.642000													19	57					1.96895e-08	2.16368e-08	1	1	0
TACC2	10579	broad.mit.edu	37	10	123844725	123844725	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:123844725C>G	ENST00000369005.1	+	4	3050	c.2710C>G	c.(2710-2712)Cag>Gag	p.Q904E	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.Q904E|TACC2_ENST00000453444.2_Missense_Mutation_p.Q904E|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.Q904E|TACC2_ENST00000515273.1_Missense_Mutation_p.Q904E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	904						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACTTCAAAGTCAGCTCCCCAA	0.488000													4	58					0	0	1	0	0
FAM169A	26049	broad.mit.edu	37	5	74077764	74077764	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:74077764C>T	ENST00000389156.4	-	13	1624	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	FAM169A_ENST00000510496.1_Missense_Mutation_p.E452K|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	512										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GACAATTTCTCTTCCATGTGC	0.398000													18	67					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100685281	100685281	+	Splice_Site	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:100685281G>A	ENST00000360820.2	+	3	615	c.177_splice	c.e3-1	p.E60_splice	SCYL2_ENST00000550067.1_3'UTR	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	60	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTTTATTTAGGAAGTGGCAGT	0.254000													13	38					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1057320	1057320	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:1057320A>T	ENST00000263094.6	+	35	5003	c.4772A>T	c.(4771-4773)tAc>tTc	p.Y1591F	ABCA7_ENST00000435683.2_Missense_Mutation_p.Y1453F|ABCA7_ENST00000433129.1_Missense_Mutation_p.Y1591F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1591					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGTAACTACTTGGTGCCA	0.547000													53	269					0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163002054	163002054	+	Silent	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:163002054G>T	ENST00000418842.2	-	4	642	c.388C>A	c.(388-390)Cga>Aga	p.R130R	GCG_ENST00000375497.3_Silent_p.R130R	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	130		Cleavage; by PCSK1.			cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	ACTTACTCTCGCCTTCCTCGG	0.403000													22	130					3.85864e-22	4.80329e-22	1	1	0
CYP26A1	1592	broad.mit.edu	37	10	94833725	94833725	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:94833725T>C	ENST00000224356.4	+	1	79	c.34T>C	c.(34-36)Tgc>Cgc	p.C12R	CYP26A1_ENST00000394139.1_5'UTR|CYP26A1_ENST00000371531.1_Intron	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	12					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CAGTGCGCTCTGCACCTTCGT	0.726000													4	39					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379529	19379529	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:19379529G>A	ENST00000389363.4	-	6	591	c.519C>T	c.(517-519)ttC>ttT	p.F173F	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'UTR	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	173						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGATGGTGAGGAAGAAGGCAG	0.592000													4	59					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200822	101200822	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr14:101200822G>T	ENST00000341267.4	+	5	983	c.741G>T	c.(739-741)aaG>aaT	p.K247N	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	247					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GTGTCAAGAAGCGCGCGCTGA	0.687000													53	77					2.89171e-43	3.78827e-43	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75840695	75840695	+	Silent	SNP	T	T	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:75840695T>A	ENST00000322507.8	-	36	6249	c.5940A>T	c.(5938-5940)atA>atT	p.I1980I	COL12A1_ENST00000345356.6_Silent_p.I816I|COL12A1_ENST00000416123.2_Silent_p.I1980I|COL12A1_ENST00000483888.2_Silent_p.I1980I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1980	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGGCACTACTATCTGCAGGA	0.453000													24	125					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789795	130789795	+	Silent	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:130789795G>C	ENST00000276708.4	-	2	920	c.39C>G	c.(37-39)gtC>gtG	p.V13V		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	13						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAATCTCTTTGACCAAATTTT	0.413000													19	177					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606410	21606410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:21606410G>T	ENST00000392288.2	+	4	1058	c.949G>T	c.(949-951)Gga>Tga	p.G317*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Nonsense_Mutation_p.G189*	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G189R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCATAATGGAGAAAAACC	0.333000													9	57					3.86212e-05	4.0797e-05	1	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435279	104435279	+	RNA	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:104435279G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TTGATACCCAGCTCTTTCATA	0.358000													10	47					6.40141e-05	6.73833e-05	1	1	0
MSH2	4436	broad.mit.edu	37	2	47710080	47710080	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:47710080A>C	ENST00000233146.2	+	16	3020	c.2797A>C	c.(2797-2799)Act>Cct	p.T933P	MSH2_ENST00000406134.1_Intron|MSH2_ENST00000543555.1_Missense_Mutation_p.T867P|MSH2_ENST00000461394.1_Intron	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	933					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATAAAAGTTACTACGTGAAA	0.274000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	35					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80376443	80376443	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:80376443G>A	ENST00000265080.4	+	7	1063	c.996G>A	c.(994-996)atG>atA	p.M332I	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	332	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGCTCCCCATGCTGAACATTT	0.408000													38	126					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66322789	66322789	+	RNA	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:66322789T>C	ENST00000513398.1	+	0	766				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						ACACTGCCTTTGAGGTGGCAG	0.577000													38	171					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247163217	247163217	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:247163217G>C	ENST00000339986.7	-	2	310	c.163C>G	c.(163-165)Cac>Gac	p.H55D	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.H55D	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	55	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCCTTACTGTGAAATAGGAAT	0.408000													14	51					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28592681	28592681	+	Missense_Mutation	SNP	C	C	A	rs148480385		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr13:28592681C>A	ENST00000380982.4	-	20	2545	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000241453.7_Missense_Mutation_p.G822W			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	822	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACTTTCCCGTGGGTGACA	0.463000			"""Mis, O"""		"""AML, ALL"""								12	79					0.000308642	0.000316016	1	1	0
SLX4IP	128710	broad.mit.edu	37	20	10579401	10579401	+	Splice_Site	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:10579401G>T	ENST00000334534.5	+	5	496		c.e5+1			NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		CAGAATGCTGGTAAGAAGCCG	0.458000													15	77					6.94344e-10	7.92028e-10	1	1	0
PDE11A	50940	broad.mit.edu	37	2	178534292	178534292	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:178534292C>A	ENST00000286063.5	-	18	2808	c.2491G>T	c.(2491-2493)Gca>Tca	p.A831S	PDE11A_ENST00000409504.1_Missense_Mutation_p.A473S|PDE11A_ENST00000450799.2_Missense_Mutation_p.A22S|PDE11A_ENST00000449286.2_Missense_Mutation_p.A473S|PDE11A_ENST00000389683.3_Missense_Mutation_p.A387S|PDE11A_ENST00000358450.4_Missense_Mutation_p.A581S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	831	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ACAAGTTCTGCCACCTGAAAC	0.363000									Primary Pigmented Nodular Adrenocortical Disease, Familial				28	120					9.65963e-10	1.09769e-09	1	1	0
TCF7L2	6934	broad.mit.edu	37	10	114905822	114905822	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr10:114905822C>G	ENST00000355995.4	+	8	1348	c.841C>G	c.(841-843)Ccc>Gcc	p.P281A	TCF7L2_ENST00000536810.1_Missense_Mutation_p.P281A|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P258A|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P305A|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P281A|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P277A|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P281A|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369395.1_Missense_Mutation_p.P306A|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P258A|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P281A|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P281A			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	281	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P258T(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACACCCCTACCCCACAGCTCT	0.512000			T	VTI1A	colorectal								40	234					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057092	186057092	+	Missense_Mutation	SNP	G	G	C	rs113241441	byFrequency	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:186057092G>C	ENST00000271588.4	+	61	9621	c.9392G>C	c.(9391-9393)aGa>aCa	p.R3131T	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3131T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3131	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATGTATGTAGAGCTATAAAT	0.358000													8	78					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242274556	242274556	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:242274556G>A	ENST00000391973.2	+	4	674	c.146G>A	c.(145-147)gGa>gAa	p.G49E	SEPT2_ENST00000407971.1_Missense_Mutation_p.G9E|SEPT2_ENST00000402092.2_Missense_Mutation_p.G49E|SEPT2_ENST00000360051.3_Missense_Mutation_p.G49E|SEPT2_ENST00000401990.1_Missense_Mutation_p.G49E|SEPT2_ENST00000391971.2_Missense_Mutation_p.G49E	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	49					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	p.S51fs*11(1)		central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCAGGTCTAGGAAAATCGACT	0.373000													12	33					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50888528	50888528	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:50888528A>C	ENST00000313478.7	-	23	3495	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V	TRPM7_ENST00000560955.1_Missense_Mutation_p.L1072V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1072					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AATGGAGTCAACCACGTCCCA	0.313000													7	37					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146737743	146737743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:146737743C>G	ENST00000369258.4	+	8	912	c.892C>G	c.(892-894)Cta>Gta	p.L298V	CHD1L_ENST00000369259.3_Missense_Mutation_p.L94V|CHD1L_ENST00000361293.5_Missense_Mutation_p.L17V|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L298V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	298					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GATGAAAGACCTAGGTAATCA	0.378000													14	91					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105108839	105108839	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:105108839C>G	ENST00000356362.2	-	12	1684	c.1470G>C	c.(1468-1470)aaG>aaC	p.K490N	PUS7_ENST00000469408.1_Missense_Mutation_p.K490N	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	490	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTCTATCCTCTTGCTTACCA	0.408000													25	134					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31222871	31222871	+	Silent	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:31222871T>C	ENST00000362065.4	+	13	3204	c.2913T>C	c.(2911-2913)ttT>ttC	p.F971F		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	971	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCCGTCACTTTAAGGTCAGTT	0.537000								Direct reversal of damage					18	97					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764680	110764680	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr7:110764680C>G	ENST00000451085.1	+	4	2898	c.1852C>G	c.(1852-1854)Caa>Gaa	p.Q618E	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.Q618E|LRRN3_ENST00000422987.3_Missense_Mutation_p.Q618E|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	618						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GCACCCTGATCAAAAAGAGTA	0.383000													9	51					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586559	15586559	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:15586559C>T	ENST00000292609.4	-	2	1051	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.V308M			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	308					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCTCTGGCCACCCCAGCCCCA	0.642000													3	36					0	0	1	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104876	11104876	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:11104876G>C	ENST00000472091.1	-	2	1043	c.668C>G	c.(667-669)tCt>tGt	p.S223C	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.S223C|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		223						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TTCCGCTGTAGAGCTGAGGTT	0.483000													9	62					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54872584	54872584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:54872584G>T	ENST00000391743.3	-	2	529	c.249C>A	c.(247-249)tgC>tgA	p.C83*	LAIR1_ENST00000348231.4_Nonsense_Mutation_p.C101*|LAIR1_ENST00000391742.2_Nonsense_Mutation_p.C101*|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.C100*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.C100*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.C94*			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	101	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TATAATAGATGCAGCGATAAG	0.522000													45	215					1.19451e-25	1.51845e-25	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30732646	30732646	+	Silent	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:30732646C>G	ENST00000262518.4	+	21	3775	c.3390C>G	c.(3388-3390)ccC>ccG	p.P1130P	SRCAP_ENST00000395059.2_Silent_p.P1130P|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1130	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			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)			TGTTGAAGCCCCTGACAGTGC	0.637000													18	187					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42730842	42730842	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:42730842G>C	ENST00000372572.1	-	6	699	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V	FOXJ3_ENST00000372573.1_Missense_Mutation_p.L130V|FOXJ3_ENST00000361776.1_Missense_Mutation_p.L130V|FOXJ3_ENST00000361346.1_Missense_Mutation_p.L130V|FOXJ3_ENST00000545068.1_Missense_Mutation_p.L130V	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	130					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCAATGACAGATTATGTCGT	0.318000													27	138					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045278	20045278	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:20045278G>T	ENST00000343769.5	+	4	1542	c.1514G>T	c.(1513-1515)gGa>gTa	p.G505V	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	505						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATTCATACTGGAGAGAAACCC	0.353000													8	86					0.0692343	0.0694659	1	1	0
FAT4	79633	broad.mit.edu	37	4	126372969	126372969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr4:126372969G>T	ENST00000394329.3	+	9	10811	c.10798G>T	c.(10798-10800)Gtg>Ttg	p.V3600L	FAT4_ENST00000335110.5_Missense_Mutation_p.V1898L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3600	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACAGGAACTGTGCATATCAC	0.423000													23	92					1.64293e-13	1.97152e-13	1	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42105896	42105896	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:42105896C>G	ENST00000457542.2	+	9	1183	c.897C>G	c.(895-897)ttC>ttG	p.F299L	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.F299L|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.F305L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.F187L|MAPKBP1_ENST00000221214.6_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	305										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGCGCCTTTTCAACCCCTCTA	0.597000													46	248					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325571	152325571	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:152325571G>T	ENST00000388718.5	-	3	4763	c.4691C>A	c.(4690-4692)aCa>aAa	p.T1564K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1564							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGACCCTGTCTGTGTGGT	0.488000													65	318					5.00936e-31	6.47762e-31	1	1	0
ZNF704	619279	broad.mit.edu	37	8	81733691	81733691	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:81733691C>T	ENST00000327835.3	-	2	370	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	47						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTTTCTTTTTCATGGTCAAGG	0.423000													58	346					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186084410	186084410	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:186084410G>A	ENST00000271588.4	+	75	11654	c.11425G>A	c.(11425-11427)Ggt>Agt	p.G3809S	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3809S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3809	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATTGCTCCGGGTCCTACCAA	0.398000													33	168					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89018623	89018623	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr4:89018623G>A	ENST00000237612.3	-	13	2174	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	ABCG2_ENST00000515655.1_Silent_p.I543I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	543	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ACACAAAACAGATGGTCATGA	0.418000													11	63					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728063	20728063	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr19:20728063C>T	ENST00000427401.4	-	4	1040	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	316					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCACATTCTTCACATTTGTAG	0.428000													5	42					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46605204	46605204	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:46605204G>C	ENST00000263734.3	+	10	1931	c.1421G>C	c.(1420-1422)aGc>aCc	p.S474T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	474	Poly-Ser.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGTGCCACCAGCAGCAGCAGC	0.647000													3	26					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4935834	4935834	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:4935834G>C	ENST00000328908.5	+	5	1070	c.939G>C	c.(937-939)agG>agC	p.R313S	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.R259S|CDYL_ENST00000343762.5_Missense_Mutation_p.R127S|CDYL_ENST00000449732.2_Missense_Mutation_p.R127S			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	313					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CCAGCAAAAGGAAATTTATTG	0.453000													17	94					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431339	38431339	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:38431339G>C	ENST00000322350.5	+	15	2461	c.2115G>C	c.(2113-2115)aaG>aaC	p.K705N	EGFLAM_ENST00000397202.2_Missense_Mutation_p.K71N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.K705N|EGFLAM_ENST00000336740.6_Missense_Mutation_p.K471N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	705	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCACAGCAAAGAATGGAATCT	0.453000													14	179					0	0	1	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90078046	90078046	+	RNA	SNP	C	C	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:90078046C>A	ENST00000390270.2	+	0	180																											ACGCAGTCTCCAGCCACCCTG	0.493000													17	146					3.85864e-22	4.80329e-22	1	1	0
PADI1	29943	broad.mit.edu	37	1	17567233	17567233	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:17567233C>T	ENST00000375471.4	+	15	1828	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	PADI1_ENST00000537499.1_Missense_Mutation_p.A136V|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.A50V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	579					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AACTTCTACGCGGAAGCCTTC	0.592000													28	133					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241803376	241803376	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:241803376G>A	ENST00000366554.2	-	1	287	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Silent_p.L61L	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	61					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACGAGCACCAGCAGGTTGTTG	0.667000													5	47					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67876781	67876781	+	Silent	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr16:67876781G>A	ENST00000303596.1	+	1	569	c.324G>A	c.(322-324)caG>caA	p.Q108Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	108	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.682000													3	53					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634714	122634714	+	Missense_Mutation	SNP	G	G	A	rs142815872	byFrequency	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:122634714G>A	ENST00000195173.4	-	13	2015	c.1712C>T	c.(1711-1713)cCg>cTg	p.P571L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.P625L|SEMA5B_ENST00000357599.3_Missense_Mutation_p.P571L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	571					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCCACAGTACGGGTCCCGGGC	0.612000													10	79					0	0	1	0	0
AGPAT1	10554	broad.mit.edu	37	6	32137205	32137205	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:32137205G>C	ENST00000395499.1	-	7	1279	c.700C>G	c.(700-702)Ctg>Gtg	p.L234V	AGPAT1_ENST00000412465.2_Missense_Mutation_p.L122V|AGPAT1_ENST00000375104.2_Missense_Mutation_p.L234V|AGPAT1_ENST00000395496.1_Missense_Mutation_p.L234V|AGPAT1_ENST00000395497.1_Missense_Mutation_p.L234V|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000336984.6_Missense_Mutation_p.L234V|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375107.3_Missense_Mutation_p.L234V			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	234					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						ACTGGGGGCAGCACCCGCACC	0.622000													21	130					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458061	232458061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr2:232458061G>T	ENST00000313965.2	+	1	487	c.399G>T	c.(397-399)aaG>aaT	p.K133N		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	133										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GTAAAGACAAGATGTCACAAA	0.567000													24	122					6.32553e-13	7.53039e-13	1	1	0
OR1E2	8388	broad.mit.edu	37	17	3336768	3336768	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:3336768T>C	ENST00000248384.1	-	1	367	c.368A>G	c.(367-369)tAt>tGt	p.Y123C		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	123					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GATGGCCACATAGCGGTCATA	0.552000													20	44					0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79498720	79498720	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:79498720G>C	ENST00000507668.2	-	2	330	c.180C>G	c.(178-180)caC>caG	p.H60Q	SERINC5_ENST00000512972.2_Missense_Mutation_p.H60Q|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.H60Q|SERINC5_ENST00000509193.1_Missense_Mutation_p.H60Q	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	60					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CTTTCATCTTGTGAGCCACGG	0.502000													3	44					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47144882	47144882	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:47144882G>C	ENST00000409792.3	-	7	4913	c.4871C>G	c.(4870-4872)tCt>tGt	p.S1624C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1624	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CATGAAACGAGAGCAATTTCC	0.343000			"""N, F, S, Mis"""		clear cell renal carcinoma								29	100					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909015	60909015	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr20:60909015C>G	ENST00000252999.3	-	23	2886	c.2820G>C	c.(2818-2820)atG>atC	p.M940I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	940	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTCACACTCATGGCCCCCC	0.682000													3	49					0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81888882	81888882	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:81888882T>C	ENST00000220597.4	-	9	1906	c.1196A>G	c.(1195-1197)aAg>aGg	p.K399R		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	399					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CAGGGTGGCCTTTTCTTCCTC	0.537000													3	98					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48551431	48551431	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:48551431A>G	ENST00000396577.3	+	17	2292	c.2077A>G	c.(2077-2079)Aca>Gca	p.T693A	SLC12A1_ENST00000380993.3_Missense_Mutation_p.T693A|SLC12A1_ENST00000558405.1_Missense_Mutation_p.T693A	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	693					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGGACCCATGACAAGACCTGC	0.493000													29	167					0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012583	151012583	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:151012583G>A	ENST00000260843.4	-	3	915	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	151						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTACATCCGAGAGTCCCCA	0.423000													6	48					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645422	45645422	+	Silent	SNP	A	A	T			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr5:45645422A>T	ENST00000303230.4	-	2	771	c.714T>A	c.(712-714)atT>atA	p.I238I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	238						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTTTCTACAATAAGAAAGA	0.373000													8	46					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967357	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:91967356_91967357insA	ENST00000428239.1	+	2	342_343	c.83_84insA	c.(82-84)taafs	p.*28fs	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAACG	0.406													10	149	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													5	10	---	---	---	---					
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-	rs141411396		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aaa>aa	p.KK363del	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419													7	201	---	---	---	---					
OR2T7	81458	broad.mit.edu	37	1	248605401	248605402	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr1:248605401_248605402delGT	ENST00000460972.3	+	1	894_895	c.894_895delGT	c.(892-897)aggtfs	p.RC298fs						olfactory receptor, family 2, subfamily T, member 7																		TTGTTGGGAGGTGTGTGTCCTC	0.446													15	122	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:75790810_75790811insT	ENST00000422325.1	-	3	456_457	c.134_135insA	c.(133-135)actfs	p.T45fs	ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													8	35	---	---	---	---					
ST3GAL6	10402	broad.mit.edu	37	3	98487355	98487355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr3:98487355delG	ENST00000394162.1	+	3	538	c.71delG	c.(70-72)tgfs	p.W24fs	ST3GAL6_ENST00000483910.1_Frame_Shift_Del_p.W24fs|ST3GAL6_ENST00000468553.1_Frame_Shift_Del_p.W24fs|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000265261.6_5'UTR	NM_006100.2	NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	24					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TGCATATTATGGGGAACGAAT	0.383													25	182	---	---	---	---					
LGSN	51557	broad.mit.edu	37	6	63995608	63995608	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr6:63995608delT	ENST00000370658.5	-	3	247	c.214delA	c.(214-216)gafs	p.R72fs	LGSN_ENST00000370657.4_Frame_Shift_Del_p.R72fs	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	72					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGTTTCATTCTAGAAGAGAGT	0.443													7	84	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142444235	142444238	+	RNA	DEL	GGGT	GGGT	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr8:142444235_142444238delGGGT	ENST00000430863.1	-	0	3937					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGTGTTGGGGGGGTGGGGGGTGGG	0.637													3	5	---	---	---	---					
USP20	10868	broad.mit.edu	37	9	132637174	132637175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:132637174_132637175insG	ENST00000315480.4	+	19	2146_2147	c.1988_1989insG	c.(1987-1989)tgtfs	p.C663fs	USP20_ENST00000358355.1_Frame_Shift_Ins_p.C663fs|USP20_ENST00000372429.3_Frame_Shift_Ins_p.C663fs			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	663					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GATGACCAGTACGTCACAGAAG	0.609													10	33	---	---	---	---					
FAM157B	100132403	broad.mit.edu	37	9	141107536	141107537	+	RNA	INS	-	-	GCA			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN																			CGgcagcggcggcagcagcagc	0.545													3	6	---	---	---	---					
MUC2	4583	broad.mit.edu	37	11	1082656	1082657	+	Frame_Shift_Del	DEL	CG	CG	-	rs41498247	by1000genomes	TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:1082656_1082657delCG	ENST00000441003.2	+	15	1932_1933	c.1905_1906delCG	c.(1903-1908)tacgfs	p.YA635fs	MUC2_ENST00000359061.5_Frame_Shift_Del_p.YA635fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	635						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTCCTCCTACGCGCGCGCCTG	0.649													13	58	---	---	---	---					
OR51M1	390059	broad.mit.edu	37	11	5411387	5411387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:5411387delC	ENST00000328611.3	+	1	781	c.759delC	c.(757-759)tgfs	p.C253fs	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	253						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGACATGCACCGCTCCTC	0.577													15	96	---	---	---	---					
FAU	2197	broad.mit.edu	37	11	64888248	64888250	+	In_Frame_Del	DEL	TCT	TCT	-	rs1065065		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr11:64888248_64888250delTCT	ENST00000529639.1	-	5	696_698	c.305_307delAGA	c.(304-309)aca>a	p.KT102del	FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000279259.3_In_Frame_Del_p.ED83del	NM_001997.4	NP_001988.1	P35544	UBIM_HUMAN	Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed	0										NS(3)|kidney(1)|large_intestine(2)	6						GCCCGACCTGTCTTCTTCTTCTT	0.542													7	190	---	---	---	---					
RP11-314D7.4	0	broad.mit.edu	37	12	74042476	74042476	+	RNA	DEL	A	A	-	rs111648260		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr12:74042476delA	ENST00000549058.1	-	0	97																											CAGCAAGAAGAAAAAAGGCCA	0.423													2	4	---	---	---	---					
LINC01582	101927332	broad.mit.edu	37	15	98629747	98629749	+	RNA	DEL	GAG	GAG	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr15:98629747_98629749delGAG	ENST00000560195.1	-	0	478				CTD-2544M6.1_ENST00000560360.1_lincRNA																							ggaggaggaagaggaggaggagg	0.488													6	3	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29657516	29657519	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:29657516_29657519delAGTA	ENST00000358273.4	+	39	6195	c.5812_splice	c.e39+1	p.1938_splice	NF1_ENST00000356175.3_Splice_Site_p.1917_splice|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1938					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.?(7)	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)		TAGCAAATCTAGTAAGTAATGATA	0.324			"""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)			18	49	---	---	---	---					
RP13-516M14.2	0	broad.mit.edu	37	17	80173572	80173573	+	RNA	DEL	CC	CC	-	rs61186056		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr17:80173572_80173573delCC	ENST00000581303.1	+	0	1371																											tccttccctgccccccccacac	0.703													3	3	---	---	---	---					
RTTN	25914	broad.mit.edu	37	18	67697249	67697249	+	Splice_Site	DEL	T	T	-			TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr18:67697249delT	ENST00000255674.6	-	42	6030	c.5745_splice	c.e42+1	p.K1915_splice	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1915							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAATGTTACCTTTTTTTTCAA	0.398													8	184	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs75719175		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)cag>ca	p.QQQ547del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	547	Poly-Gln.						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						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"""AML, meningioma"""								4	3	---	---	---	---					
MTMR8	55613	broad.mit.edu	37	X	63488455	63488455	+	Frame_Shift_Del	DEL	C	C	-	rs151197516		TCGA-55-8204-01A-11D-2238-08	TCGA-55-8204-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c4ca593-4c1e-45c3-8e93-38607fc5014d	aeb1252d-5fe2-4c1d-9196-1945a5318b1e	g.chrX:63488455delC	ENST00000374852.3	-	14	2144	c.2077delG	c.(2077-2079)ccfs	p.A693fs	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	693						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTGGTGCTGGCCTTGGAGATG	0.517													9	101	---	---	---	---