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
ROBO3	64221	broad.mit.edu	37	11	124747166	124747166	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124747166C>T	ENST00000397801.1	+	19	2999	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	ROBO3_ENST00000538940.1_Missense_Mutation_p.S914F|ROBO3_ENST00000525482.1_Intron	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	936					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCCCCAGTGTCCTTCCCGCAC	0.607000													9	84					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35251188	35251188	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:35251188G>A	ENST00000329285.7	-	4	891	c.518C>T	c.(517-519)aCt>aTt	p.T173I		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ATCTTGTGGAGTGACTCGTTC	0.458000													26	90					0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43638684	43638684	+	Nonstop_Mutation	SNP	T	T	C	rs141935442		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:43638684T>C	ENST00000372163.4	+	5	882	c.829T>C	c.(829-831)Tag>Cag	p.*277Q	RSPH9_ENST00000372165.4_Missense_Mutation_p.I294T	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTTCATGCTATAGAATGGGAG	0.493000									Kartagener syndrome				5	37					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:152277201G>C	ENST00000368799.1	-	3	10196	c.10161C>G	c.(10159-10161)ctC>ctG	p.L3387L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612000									Ichthyosis				77	332					0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131520706	131520706	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:131520706G>A	ENST00000431975.2	+	6	793	c.695G>A	c.(694-696)cGt>cAt	p.R232H	AKAP7_ENST00000541650.1_Missense_Mutation_p.R231H|AKAP7_ENST00000368123.4_Missense_Mutation_p.R210H	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CCGTGGCTCCGTAAGAATGTG	0.453000											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	31					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17671238	17671238	+	Silent	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:17671238G>T	ENST00000252599.4	+	3	573	c.453G>T	c.(451-453)ctG>ctT	p.L151L		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		AGGCAGCCCTGAAATCAGCTC	0.582000													15	46					1.49906e-05	1.52607e-05	1	1	0
ZBTB41	360023	broad.mit.edu	37	1	197128614	197128614	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:197128614T>C	ENST00000367405.4	-	10	2673	c.2605A>G	c.(2605-2607)Ata>Gta	p.I869V	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	869					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGTGAACTATATTTGCAGGT	0.408000													20	145					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98581772	98581772	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:98581772A>G	ENST00000359863.4	+	60	9300	c.9091A>G	c.(9091-9093)Atg>Gtg	p.M3031V	TRRAP_ENST00000446306.3_Missense_Mutation_p.M3002V|TRRAP_ENST00000355540.3_Missense_Mutation_p.M3002V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3031	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATAACGCTATGCTTGGGGT	0.453000													30	68					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836038	47836038	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr21:47836038A>C	ENST00000359568.5	+	30	6313	c.6206A>C	c.(6205-6207)cAg>cCg	p.Q2069P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2069					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTCGTAGCTCAGGTGAAACAG	0.502000													4	34					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167031869	167031869	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr3:167031869G>A	ENST00000392766.2	-	16	1650	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	ZBBX_ENST00000392764.1_Missense_Mutation_p.P408L|ZBBX_ENST00000307529.5_Missense_Mutation_p.P437L|ZBBX_ENST00000455345.2_Missense_Mutation_p.P437L|ZBBX_ENST00000392767.2_Missense_Mutation_p.P437L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	437						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTCATATGGAAAGCTATT	0.284000													29	139					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15812463	15812463	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:15812463C>A	ENST00000375910.3	+	6	586	c.561C>A	c.(559-561)tcC>tcA	p.S187S		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	187	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CCACCTGCTCCAGCTCTGGCT	0.572000													110	133					2.25818e-43	2.50171e-43	1	1	0
TNXB	7148	broad.mit.edu	37	6	32047086	32047086	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:32047086G>A	ENST00000375244.3	-	11	4300	c.4099C>T	c.(4099-4101)Ccg>Tcg	p.P1367S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1367S			P22105	TENX_HUMAN	tenascin XB	1454	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGACTCCGGGGCCTCCGTG	0.642000													17	44					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436936	248436936	+	Silent	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:248436936G>A	ENST00000318021.2	-	1	202	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			AGTTGGCTCAGGAGGAAGTAC	0.542000													10	83					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196834727	196834727	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:196834727C>T	ENST00000312428.6	-	17	2250	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	717	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTAGGTACCGCTGAACATC	0.328000													18	79					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70418879	70418879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:70418879C>T	ENST00000381280.4	+	2	377	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Nonsense_Mutation_p.Q42*	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	42	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCGTGACCCACAGTGCAACCT	0.502000													20	69					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86044107	86044107	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:86044107G>A	ENST00000414626.2	+	11	2708	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E627K			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	627					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAATACCAAGAGAAAATTGA	0.353000													12	51					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267793	103267793	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:103267793G>A	ENST00000217926.5	-	1	466	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	147					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CATCTGCCCCGGCAGCAGCAG	0.687000													14	54					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42264608	42264608	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:42264608C>A	ENST00000373030.3	+	11	1096	c.966C>A	c.(964-966)ctC>ctA	p.L322L	IFT52_ENST00000373039.4_Silent_p.L322L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	322						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACTCCAGCTCATCCAGCCTC	0.517000													14	36					2.23348e-06	2.2944e-06	1	1	0
WDR70	55100	broad.mit.edu	37	5	37396550	37396550	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:37396550C>T	ENST00000265107.4	+	5	526	c.370C>T	c.(370-372)Cct>Tct	p.P124S	WDR70_ENST00000504564.1_Missense_Mutation_p.P124S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	124										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTTTACCCCCTAAAATGGT	0.408000													25	114					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466164	56466164	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:56466164A>G	ENST00000291971.3	+	3	811	c.740A>G	c.(739-741)gAg>gGg	p.E247G	NLRP8_ENST00000590542.1_Missense_Mutation_p.E247G	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	247	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATTGCCAAGAGGTGAACCAG	0.498000													24	111					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73453047	73453047	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:73453047G>C	ENST00000389501.4	+	13	1275	c.1230G>C	c.(1228-1230)gaG>gaC	p.E410D		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	410	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AAGATGCAGAGCTGGGGGATG	0.577000													5	37					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78511896	78511896	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:78511896C>A	ENST00000397909.2	+	14	3032	c.2859C>A	c.(2857-2859)agC>agA	p.S953R	NAV3_ENST00000536525.2_Missense_Mutation_p.S953R|NAV3_ENST00000228327.6_Missense_Mutation_p.S953R|NAV3_ENST00000266692.7_Missense_Mutation_p.S953R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	953						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTTTGACAGCCATGGGGATG	0.507000										HNSCC(70;0.22)			18	96					1.67942e-08	1.75717e-08	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141643854	141643854	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:141643854T>C	ENST00000389484.3	-	24	4788	c.3817A>G	c.(3817-3819)Att>Gtt	p.I1273V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1273					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)		TGAAGATCAATCCTTCTGATC	0.308000										TSP Lung(27;0.18)			12	28					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179363159	179363159	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:179363159G>T	ENST00000367618.3	+	10	1372	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	AXDND1_ENST00000457238.2_Missense_Mutation_p.V329F|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	329										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTTCAAGCATGTTATTGAAGA	0.353000													17	93					7.07596e-05	7.13914e-05	1	1	0
ZAN	7455	broad.mit.edu	37	7	100365577	100365577	+	RNA	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:100365577C>T	ENST00000542585.1	+	0	5132				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_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)			CGACGGGAGCCACTTGGTGGA	0.597000													7	20					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138687061	138687061	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:138687061C>T	ENST00000520602.1	-	17	2105	c.1820G>A	c.(1819-1821)gGa>gAa	p.G607E	MCF2_ENST00000338585.6_Missense_Mutation_p.G563E|MCF2_ENST00000519895.1_Missense_Mutation_p.G623E|MCF2_ENST00000414978.1_Missense_Mutation_p.G607E|MCF2_ENST00000370573.4_Missense_Mutation_p.G547E|MCF2_ENST00000370576.4_Missense_Mutation_p.G547E|MCF2_ENST00000536274.1_Missense_Mutation_p.G508E|MCF2_ENST00000370578.4_Missense_Mutation_p.G692E			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	547	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	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)					TGCCATGTTTCCAAAGAGAAT	0.318000													45	53					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282758	59282758	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:59282758G>A	ENST00000329328.3	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCGCTATATAGCCATCTCCAA	0.537000													13	90					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89702359	89702359	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:89702359C>A	ENST00000264344.5	-	11	1622	c.1415G>T	c.(1414-1416)aGt>aTt	p.S472I	FAM13A_ENST00000508369.1_Missense_Mutation_p.S146I|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000503556.1_Missense_Mutation_p.S132I|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000513837.1_Missense_Mutation_p.S118I|FAM13A_ENST00000395002.2_Missense_Mutation_p.S146I	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	472					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AAGTTTAGTACTGGATTTCTG	0.358000													13	89					1.41608e-15	1.55356e-15	1	1	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)			5	13					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382245	76382245	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr13:76382245C>G	ENST00000357063.3	+	11	3242	c.1982C>G	c.(1981-1983)cCt>cGt	p.P661R	LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.P376R|LMO7_ENST00000377534.3_Missense_Mutation_p.P661R|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.P376R			Q8WWI1	LMO7_HUMAN	LIM domain 7	661						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTTTCACCCCTGGCCCCTGC	0.522000													10	23					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310424	24310424	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:24310424C>T	ENST00000357002.4	+	4	1737	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I	ZNF254_ENST00000342944.6_Missense_Mutation_p.T456I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	541					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATAATTCATACTGAAGAGAAA	0.358000													13	55					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46604171	46604171	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:46604171G>T	ENST00000275016.2	-	5	890	c.687C>A	c.(685-687)aaC>aaA	p.N229K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	229					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TATCTGGAATGTTTTTCTCAA	0.274000													35	134					6.70999e-13	7.1531e-13	1	1	0
LGR5	8549	broad.mit.edu	37	12	71978308	71978308	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:71978308G>A	ENST00000266674.5	+	18	2829	c.2518G>A	c.(2518-2520)Gtc>Atc	p.V840I	LGR5_ENST00000536515.1_Missense_Mutation_p.V768I|LGR5_ENST00000540815.2_Missense_Mutation_p.V816I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	840						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCAAACCTACGTCTGGACAAG	0.453000													9	32					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052705	177052705	+	Splice_Site	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:177052705T>C	ENST00000393643.2	+	7	1166	c.913_splice	c.e7-1	p.F305_splice	WDR17_ENST00000508596.1_Splice_Site_p.F305_splice|WDR17_ENST00000280190.4_Splice_Site_p.F329_splice|WDR17_ENST00000507824.2_Splice_Site_p.F312_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	329										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATTTTTAGTTTCAGTCCAA	0.333000													15	61					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95728768	95728768	+	Silent	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:95728768A>T	ENST00000311106.3	-	14	2436	c.2199T>A	c.(2197-2199)ccT>ccA	p.P733P	PCSK1_ENST00000508626.1_Silent_p.P686P|PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	733					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTGCTTGTAAGGTTTAGTGT	0.403000													4	165					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1057650	1057650	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:1057650C>T	ENST00000264930.5	-	22	3005	c.2962G>A	c.(2962-2964)Gct>Act	p.A988T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	988					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TACTTCTCAGCGATCAGCTTC	0.612000													50	189					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59376073	59376073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:59376073G>A	ENST00000263847.1	-	3	1185	c.706C>T	c.(706-708)Cag>Tag	p.Q236*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	236					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGAGAACGCTGCAGAGCTGTG	0.493000													10	90					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52659617	52659617	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:52659617T>A	ENST00000322146.8	-	5	1840	c.1319A>T	c.(1318-1320)aAa>aTa	p.K440I	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.K440I	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTATATGGTTTCTCTCCTGT	0.418000													48	132					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139626118	139626118	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:139626118C>T	ENST00000303045.6	-	56	4416	c.3970G>A	c.(3970-3972)Ggc>Agc	p.G1324S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1304S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1324	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGTGGGCCCCTTGGTCCT	0.493000										HNSCC(7;0.00092)			33	119					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131757647	131757647	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:131757647G>A	ENST00000372577.2	+	30	3226	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1069					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATTTTCCATCGAGAAACGCTT	0.443000													37	136					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48914852	48914852	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:48914852C>T	ENST00000294954.7	-	11	2105	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	LHCGR_ENST00000405626.1_Missense_Mutation_p.R668H|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.R633H	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	695					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CTCTGTGTAGCGAGTCTTGTC	0.373000													18	65					0	0	1	0	0
METTL14	57721	broad.mit.edu	37	4	119631185	119631185	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:119631185A>G	ENST00000388822.4	+	11	1266	c.1099A>G	c.(1099-1101)Agc>Ggc	p.S367G	METTL14_ENST00000506780.1_Missense_Mutation_p.S329G			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	367						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCTTACAAATAGCAACTACAA	0.368000													25	99					0	0	1	0	0
IL2	3558	broad.mit.edu	37	4	123372933	123372933	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:123372933G>C	ENST00000226730.4	-	4	720	c.436C>G	c.(436-438)Caa>Gaa	p.Q146E		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	146					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		ATGATGCTTTGACAAAAGGTA	0.299000			T	TNFRSF17	intestinal T-cell lymphoma								4	29					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186185	127186185	+	Translation_Start_Site	SNP	T	T	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:127186185T>A	ENST00000371124.3	-	1	197	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	1						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGATTAAACATGTCTGTAATA	0.428000													21	23					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130833938	130833938	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:130833938G>C	ENST00000245255.3	+	8	1161	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	297	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TAAATTTCAAGAACAAGTTTC	0.343000													4	36					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47682985	47682985	+	Silent	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:47682985T>C	ENST00000262982.2	+	5	537	c.414T>C	c.(412-414)ttT>ttC	p.F138F	CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Silent_p.F138F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	138					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGAATCGCTTTCAGAGTGGAG	0.358000													11	83					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621791	118621791	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr3:118621791G>A	ENST00000354673.2	-	9	1249	c.869C>T	c.(868-870)cCc>cTc	p.P290L	IGSF11_ENST00000489689.1_Missense_Mutation_p.P267L|IGSF11_ENST00000441144.2_Missense_Mutation_p.P266L|IGSF11_ENST00000491903.1_Missense_Mutation_p.P263L|IGSF11_ENST00000393775.2_Missense_Mutation_p.P291L|IGSF11_ENST00000425327.2_Missense_Mutation_p.P290L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	291					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGAACACTTGGGTGGAAGATC	0.418000													13	57					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627423	148627423	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:148627423C>T	ENST00000506113.1	+	17	2112	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.P433S|ABLIM3_ENST00000326685.7_Missense_Mutation_p.P449S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.P30S|ABLIM3_ENST00000356541.3_Missense_Mutation_p.P433S|ABLIM3_ENST00000309868.7_Missense_Mutation_p.P544S|ABLIM3_ENST00000508983.1_Missense_Mutation_p.P511S			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	544					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGGACCCCTCCCCGGAG	0.607000													13	39					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288732	62288732	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:62288732G>A	ENST00000378024.4	-	5	13431	c.13157C>T	c.(13156-13158)tCc>tTc	p.S4386F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4386					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAGGCATGGAGATTTTGGG	0.473000													44	238					0	0	1	0	0
C2CD5	9847	broad.mit.edu	37	12	22610002	22610002	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:22610002T>C	ENST00000333957.4	-	23	2882	c.2627A>G	c.(2626-2628)aAg>aGg	p.K876R	C2CD5_ENST00000545552.1_Missense_Mutation_p.K930R|C2CD5_ENST00000396028.2_Missense_Mutation_p.K918R|C2CD5_ENST00000536386.1_Missense_Mutation_p.K929R|C2CD5_ENST00000544930.1_Missense_Mutation_p.K732R|C2CD5_ENST00000542676.1_Missense_Mutation_p.K927R|C2CD5_ENST00000446597.1_Missense_Mutation_p.K927R	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		AGGTGTCATCTTAACAACCCC	0.393000													19	71					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36636622	36636622	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:36636622C>T	ENST00000316156.4	+	2	550	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MAP7D1_ENST00000373151.2_Missense_Mutation_p.P33S|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P33S			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	33	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGAAGGTGACCCTTCCCCCCC	0.602000													28	37					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32686339	32686339	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:32686339A>G	ENST00000374980.2	-	4	619	c.398T>C	c.(397-399)tTc>tCc	p.F133S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	133						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTCATCTGGGAACTTAACATT	0.398000													13	52					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118769943	118769943	+	Silent	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:118769943G>A	ENST00000334801.3	-	8	4645	c.3681C>T	c.(3679-3681)ccC>ccT	p.P1227P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1227	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GAGGGGGGAAGGGCATCATCT	0.716000													3	4					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88582625	88582625	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:88582625A>G	ENST00000266712.6	+	11	1658	c.1438A>G	c.(1438-1440)Att>Gtt	p.I480V		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	480						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTAGATGATATTGGTGCCCA	0.274000													15	68					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564042	103564042	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:103564042C>T	ENST00000285402.3	+	1	243	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	29					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATGCATCGACGAATTTAGCA	0.493000													37	108					0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1118297	1118297	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:1118297G>A	ENST00000379290.1	+	11	1131	c.958G>A	c.(958-960)Ggc>Agc	p.G320S	TTLL10_ENST00000379288.3_Missense_Mutation_p.G247S|TTLL10_ENST00000379289.1_Missense_Mutation_p.G320S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	320	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAACCAGGGCAAAGGCAT	0.647000													4	3					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405854	1405854	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:1405854C>T	ENST00000381312.1	-	3	771	c.446G>A	c.(445-447)gGc>gAc	p.G149D		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	149	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ATGCACCGGGCCCGTCTGCGA	0.682000													7	18					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817321	55817321	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:55817321C>T	ENST00000313833.4	+	2	458	c.213C>T	c.(211-213)tgC>tgT	p.C71C	FBXO34_ENST00000440021.1_Silent_p.C71C|FBXO34_ENST00000555087.1_3'UTR	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	71										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ATGTTCTGTGCAGTATGAGTG	0.463000													24	83					0	0	1	0	0
ADCK5	203054	broad.mit.edu	37	8	145616448	145616448	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:145616448C>T	ENST00000308860.6	+	6	702	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	220	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGCCAAGCTGCACGATGGCAC	0.632000													15	68					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967047	106967047	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:106967047C>T	ENST00000369066.3	+	2	1227	c.740C>T	c.(739-741)cCt>cTt	p.P247L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	247							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTTAAAACCCCTAAGAATCTT	0.403000													7	63					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178305725	178305725	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178305725C>T	ENST00000264167.4	+	6	816	c.670C>T	c.(670-672)Cta>Tta	p.L224L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	224	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GATTGTGAATCTAGCTTGCAA	0.269000													31	65					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26190120	26190120	+	Missense_Mutation	SNP	C	C	T	rs149765684	byFrequency	TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:26190120C>T	ENST00000374296.3	-	2	877	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	71					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.E71K(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGGCCTCGTTGTGCTGC	0.642000													11	46					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203740566	203740566	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:203740566A>C	ENST00000442561.2	+	3	661	c.271A>C	c.(271-273)Aat>Cat	p.N91H	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.N75H	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	91					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAGCCAAAAATATTTATGA	0.463000													38	190					0	0	1	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143524	21143524	+	RNA	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr20:21143524A>T	ENST00000591761.1	-	0	5054				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGTCACAAAAGCCCTTCAGA	0.453000													10	16					0	0	1	0	0
NSMF	26012	broad.mit.edu	37	9	140343854	140343854	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:140343854C>T	ENST00000371475.3	-	16	1816	c.1585G>A	c.(1585-1587)Gtc>Atc	p.V529I	NSMF_ENST00000392812.4_Missense_Mutation_p.V506I|NSMF_ENST00000541195.1_Missense_Mutation_p.V326I|NSMF_ENST00000437259.1_Missense_Mutation_p.V506I|NSMF_ENST00000371472.2_Missense_Mutation_p.V527I|NSMF_ENST00000371473.3_Missense_Mutation_p.V499I|NSMF_ENST00000265663.7_Missense_Mutation_p.V527I|NSMF_ENST00000339554.3_Missense_Mutation_p.V326I|NSMF_ENST00000371482.1_Missense_Mutation_p.V193I|NSMF_ENST00000371474.3_Missense_Mutation_p.V504I	NM_001130969.1	NP_001124441.1			NMDA receptor synaptonuclear signaling and neuronal migration factor																		CCTCACAGGACGTCGTCAAAG	0.652000													7	71					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579180	49579180	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:49579180C>A	ENST00000301071.7	-	4	1313	c.969G>T	c.(967-969)gtG>gtT	p.V323V	TUBA1A_ENST00000295766.5_Silent_p.V323V|TUBA1A_ENST00000550767.1_Silent_p.V288V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	323					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CTTTGGGAACCACGTCACCAC	0.512000													13	63					3.62473e-10	3.82799e-10	1	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140768882	140768882	+	Silent	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:140768882G>A	ENST00000519479.1	+	1	1431	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGATCCGGACTTGGGGC	0.572000													71	73					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37396549	37396549	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:37396549C>T	ENST00000265107.4	+	5	525	c.369C>T	c.(367-369)ccC>ccT	p.P123P	WDR70_ENST00000504564.1_Silent_p.P123P	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	123										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCTTTACCCCCTAAAATGG	0.413000													25	114					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121561179	121561179	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:121561179C>T	ENST00000395601.3	-	6	1570	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	SNTB1_ENST00000517992.1_Missense_Mutation_p.G386R	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	386	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCCCTTTCCTGGACCTGAA	0.493000													11	36					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178684957	178684957	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178684957G>T	ENST00000286063.5	-	7	1883	c.1566C>A	c.(1564-1566)caC>caA	p.H522Q	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.H164Q|PDE11A_ENST00000449286.2_Missense_Mutation_p.H164Q|PDE11A_ENST00000389683.3_Missense_Mutation_p.H78Q|PDE11A_ENST00000358450.4_Missense_Mutation_p.H272Q	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	522	GAF 2.				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)			CAATTATTTGGTGGTTGCTAT	0.313000									Primary Pigmented Nodular Adrenocortical Disease, Familial				52	80					2.37494e-14	2.58047e-14	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039416	31039416	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:31039416T>A	ENST00000355537.3	+	4	3037	c.2890T>A	c.(2890-2892)Tcc>Acc	p.S964T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	964					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGCAAGTCCTCCCAGAGGAA	0.582000													38	168					0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144797955	144797955	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:144797955G>C	ENST00000358615.4	-	3	241	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V	GYPE_ENST00000437468.2_Missense_Mutation_p.L64V	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	64						integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					ACAACAACAAGCATCACCTCA	0.353000													3	19					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567513	223567513	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:223567513C>G	ENST00000366875.3	+	1	799	c.696C>G	c.(694-696)agC>agG	p.S232R		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	232										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGCCTCCAGCAAAGAGATGC	0.622000													4	53					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47920458	47920458	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:47920458C>T	ENST00000331559.5	-	2	603	c.162G>A	c.(160-162)aaG>aaA	p.K54K	MEIS3_ENST00000559524.1_Silent_p.K54K|MEIS3_ENST00000561293.1_Silent_p.K54K|MEIS3_ENST00000441740.2_Silent_p.K54K|MEIS3_ENST00000558555.1_Silent_p.K54K|MEIS3_ENST00000561096.1_Silent_p.K142K	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCTTCTCCCTCTTCAGGCCGT	0.632000													4	73					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180503	65180503	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr18:65180503A>T	ENST00000310045.7	-	2	2846	c.1373T>A	c.(1372-1374)aTa>aAa	p.I458K	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	448						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAATGAACTATGTCATACAC	0.468000													23	38					0	0	1	0	0
MEIS3	56917	broad.mit.edu	37	19	47920461	47920461	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:47920461C>T	ENST00000331559.5	-	2	600	c.159G>A	c.(157-159)ctG>ctA	p.L53L	MEIS3_ENST00000559524.1_Silent_p.L53L|MEIS3_ENST00000561293.1_Silent_p.L53L|MEIS3_ENST00000441740.2_Silent_p.L53L|MEIS3_ENST00000558555.1_Silent_p.L53L|MEIS3_ENST00000561096.1_Silent_p.L141L	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	53						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TCTCCCTCTTCAGGCCGTCGC	0.637000													4	76					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78511895	78511895	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:78511895G>A	ENST00000397909.2	+	14	3031	c.2858G>A	c.(2857-2859)aGc>aAc	p.S953N	NAV3_ENST00000536525.2_Missense_Mutation_p.S953N|NAV3_ENST00000228327.6_Missense_Mutation_p.S953N|NAV3_ENST00000266692.7_Missense_Mutation_p.S953N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	953						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GATTTTGACAGCCATGGGGAT	0.502000										HNSCC(70;0.22)			18	99					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407507	38407507	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:38407507C>T	ENST00000351773.3	+	8	2258	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	ZNF37A_ENST00000361085.4_Silent_p.F476F	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GGAAAACCTTCCGTCAGAAGT	0.403000													12	47					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89880932	89880932	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr16:89880932A>T	ENST00000389301.3	-	3	309	c.279T>A	c.(277-279)ttT>ttA	p.F93L	FANCA_ENST00000543736.1_Missense_Mutation_p.F93L|FANCA_ENST00000534992.1_Missense_Mutation_p.F93L|FANCA_ENST00000389302.3_Missense_Mutation_p.F93L|FANCA_ENST00000568369.1_Missense_Mutation_p.F93L|FANCA_ENST00000563673.1_Missense_Mutation_p.F93L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	93					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACTTACCTATAAATGAACTAG	0.323000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	48					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874888	20874888	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:20874888A>T	ENST00000381552.1	+	8	1294	c.926A>T	c.(925-927)aAt>aTt	p.N309I	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N260I|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N191I|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N309I|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N309I			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	309					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GAGGATTCTAATTCTTCCTCT	0.388000													15	51					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154626302	154626302	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:154626302G>A	ENST00000260010.6	+	1	3651	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	748	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				ATTCCCCAGCGCTTCTGCAAG	0.493000													20	89					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207870959	207870959	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr1:207870959G>A	ENST00000508064.2	+	6	1034	c.974G>A	c.(973-975)aGa>aAa	p.R325K	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	325	Sushi 5.					cytoplasm|extracellular region|membrane		p.R333T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TACGACCTCAGAGGATCTACG	0.547000													32	160					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44249930	44249930	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:44249930G>C	ENST00000371505.4	-	4	1335	c.1213C>G	c.(1213-1215)Ccc>Gcc	p.P405A	TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	405										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(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)			GTGGCGGTGGGCTCAGACAGC	0.597000													10	41					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811445	73811445	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:73811445T>G	ENST00000332687.6	-	4	1923	c.1705A>C	c.(1705-1707)Acc>Ccc	p.T569P	RLIM_ENST00000349225.2_Missense_Mutation_p.T569P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	569					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACTACAGGTTTTTAATGCA	0.403000													16	24					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995838	57995838	+	Silent	SNP	C	C	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:57995838C>A	ENST00000316770.2	-	1	552	c.510G>T	c.(508-510)ctG>ctT	p.L170L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGCAAAAGGGCAGGGTGAAGA	0.657000													11	27					4.68919e-08	4.86127e-08	1	1	0
KMT2E	55904	broad.mit.edu	37	7	104748308	104748308	+	Missense_Mutation	SNP	G	G	A	rs150358701		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:104748308G>A	ENST00000334877.4	+	22	3938	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	KMT2E_ENST00000334914.7_Missense_Mutation_p.R190Q|KMT2E_ENST00000311117.3_Missense_Mutation_p.R1135Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1135Q					lysine (K)-specific methyltransferase 2E																		GGTTTCGGACGGACTGTTAAT	0.393000													13	37					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179742694	179742694	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:179742694A>T	ENST00000420890.2	-	12	2013	c.1896T>A	c.(1894-1896)aaT>aaA	p.N632K	CCDC141_ENST00000295723.5_Missense_Mutation_p.N57K|CCDC141_ENST00000409284.1_Missense_Mutation_p.N632K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	57							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTTACCATATTTATTAAAT	0.358000													19	89					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165827065	165827065	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr6:165827065C>T	ENST00000366882.1	-	14	1326	c.1172G>A	c.(1171-1173)aGt>aAt	p.S391N	PDE10A_ENST00000354448.4_Missense_Mutation_p.S391N|PDE10A_ENST00000539869.2_Missense_Mutation_p.S401N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	391	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.S391T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAGAAGGCACTGCCACTGAT	0.443000													13	80					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124747167	124747167	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124747167C>T	ENST00000397801.1	+	19	3000	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	ROBO3_ENST00000538940.1_Silent_p.S914S|ROBO3_ENST00000525482.1_Intron	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	936					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCCAGTGTCCTTCCCGCACT	0.607000													9	86					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7647854	7647854	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:7647854C>T	ENST00000359156.4	-	6	1445	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	CD163_ENST00000432237.2_Missense_Mutation_p.G415R|CD163_ENST00000541972.1_Missense_Mutation_p.G403R|CD163_ENST00000396620.3_Missense_Mutation_p.G415R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	415	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GATCCACATCCCAGCTGCCTG	0.473000													25	85					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178988612	178988612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr2:178988612G>A	ENST00000286070.5	+	7	1133	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	349					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAATGGTGTGGAATAACCCAA	0.308000													14	86					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942936	121942936	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:121942936G>A	ENST00000442488.2	-	3	1053	c.986C>T	c.(985-987)tCc>tTc	p.S329F	FEZF1_ENST00000427185.2_Missense_Mutation_p.S279F|FEZF1_ENST00000331178.4_Missense_Mutation_p.S325F	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	329					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GTTTAAAGTGGAACTTCTATT	0.383000													11	84					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007351	124007351	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:124007351C>T	ENST00000456829.2	+	14	1846	c.1595C>T	c.(1594-1596)aCa>aTa	p.T532I	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.T532I	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	532										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GATAAGGTGACATTTCCTCTA	0.453000													18	63					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105875859	105875859	+	Silent	SNP	C	C	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:105875859C>T	ENST00000372548.4	+	4	1093	c.984C>T	c.(982-984)atC>atT	p.I328I	CXorf57_ENST00000372544.2_Silent_p.I328I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	328										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAGAAATCTGCCTGAATC	0.299000													13	18					0	0	1	0	0
LOC101927359	101927359	broad.mit.edu	37	4	134047004	134047004	+	RNA	DEL	A	A	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr4:134047004delA	ENST00000505289.1	-	0	581																											CCAGCTACCCATGCTAGTCCC	0.552													2	4	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176722361	176722361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr5:176722361delT	ENST00000439151.2	+	23	8037	c.7992delT	c.(7990-7992)tcfs	p.S2664fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.S2561fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.S2395fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.S2395fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2664					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTTGCTGGTCTCTTGGAAGAG	0.537			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	38	---	---	---	---					
PLEKHA8	84725	broad.mit.edu	37	7	30090065	30090066	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr7:30090065_30090066insT	ENST00000449726.1	+	6	963_964	c.613_614insT	c.(613-615)accfs	p.T205fs	PLEKHA8_ENST00000258679.7_Frame_Shift_Ins_p.T205fs|PLEKHA8_ENST00000396259.1_Frame_Shift_Ins_p.T205fs|PLEKHA8_ENST00000396257.2_Frame_Shift_Ins_p.T205fs	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	205					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						ACATCCTATTATACCAATTCAT	0.248													10	22	---	---	---	---					
NKX2-6	137814	broad.mit.edu	37	8	23560310	23560311	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr8:23560310_23560311insA	ENST00000325017.3	-	2	558_559	c.559_560insT	c.(559-561)caafs	p.Q187fs	NKX2-6_ENST00000418222.1_Frame_Shift_Ins_p.Q105fs	NM_001136271.2	NP_001129743.2	C9JML6	C9JML6_HUMAN	NK2 homeobox 6	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CTGTCTCTTGCATTTGTAGCGT	0.658													2	4	---	---	---	---					
ZCCHC7	84186	broad.mit.edu	37	9	37357250	37357250	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:37357250delA	ENST00000336755.5	+	9	1723	c.1617delA	c.(1615-1617)agfs	p.R539fs	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Frame_Shift_Del_p.R249fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).				nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTAAGCAGAGAAAAAAAAAGT	0.408													7	41	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139409811	139409817	+	Frame_Shift_Del	DEL	GGCTGCT	GGCTGCT	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr9:139409811_139409817delGGCTGCT	ENST00000277541.6	-	12	2014_2020	c.1939_1945delAGCAGCC	c.(1939-1947)ccfs	p.SSP647fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	647	EGF-like 17; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGTCGCAGGGGCTGCTGGCACAGTCA	0.676			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			29	43	---	---	---	---					
SPOCK2	9806	broad.mit.edu	37	10	73826746	73826756	+	Frame_Shift_Del	DEL	CAGACCTCGTA	CAGACCTCGTA	-	rs139142132	by1000genomes	TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr10:73826746_73826756delCAGACCTCGTA	ENST00000373109.2	-	8	1276_1286	c.832_842delTACGAGGTCTG	c.(832-843)cfs	p.YEVC278fs	SPOCK2_ENST00000536168.1_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000317376.4_Frame_Shift_Del_p.YEVC278fs|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	278					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGACGGATGCAGACCTCGTACTTGTCCAGG	0.583													14	83	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104874022	104874024	+	In_Frame_Del	DEL	CAG	CAG	-	rs148935912		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr11:104874022_104874024delCAG	ENST00000393141.2	-	4	590_592	c.559_561delCTG	c.(559-561)del	p.L187del	CASP5_ENST00000418434.1_In_Frame_Del_p.L32del|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000260315.3_In_Frame_Del_p.L174del|CASP5_ENST00000444749.2_In_Frame_Del_p.L116del|CASP5_ENST00000531367.1_In_Frame_Del_p.L32del|CASP5_ENST00000526056.1_In_Frame_Del_p.L187del	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	174					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTTTTACACAGTCTCAGGAAT	0.389													34	81	---	---	---	---					
HIP1R	9026	broad.mit.edu	37	12	123340536	123340536	+	Frame_Shift_Del	DEL	T	T	-	rs142842850		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr12:123340536delT	ENST00000253083.4	+	14	1263	c.1138delT	c.(1138-1140)acfs	p.Y380fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	380					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGCCCAGCGGTACATCGCGCA	0.667													2	4	---	---	---	---					
SMAD9	4093	broad.mit.edu	37	13	37427662	37427662	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr13:37427662delA	ENST00000379826.4	-	6	1496	c.1154delT	c.(1153-1155)tcfs	p.F385fs	SMAD9_ENST00000399275.2_Frame_Shift_Del_p.F385fs|SMAD9_ENST00000350148.5_Frame_Shift_Del_p.F348fs	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	385	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGGTTGTTGAAGACCTTGAG	0.537													12	51	---	---	---	---					
NRDE2	55051	broad.mit.edu	37	14	90769458	90769459	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr14:90769458_90769459insA	ENST00000354366.3	-	6	1248_1249	c.1016_1017insT	c.(1015-1017)aaafs	p.K339fs	NRDE2_ENST00000357904.3_Frame_Shift_Ins_p.K108fs	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CAGGACTTTTCATGACCTCGTC	0.480													9	29	---	---	---	---					
GSPT1	2935	broad.mit.edu	37	16	12009530	12009531	+	In_Frame_Ins	INS	-	-	CCG	rs71408216		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr16:12009530_12009531insCCG	ENST00000434724.2	-	1	246_247	c.47_48insCGG	c.(46-48)gag>gCGGag	p.15_16insA	GSPT1_ENST00000420576.2_Intron|GSPT1_ENST00000439887.2_In_Frame_Ins_p.15_16insA|AC007216.1_ENST00000583357.1_RNA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	42					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772													4	2	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20376540	20376543	+	RNA	DEL	TTTT	TTTT	-	rs71172576		TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:20376540_20376543delTTTT	ENST00000593655.1	-	0	199																											ACCTCTCAAAtttttttttttttt	0.426													2	4	---	---	---	---					
HNRNPL	3191	broad.mit.edu	37	19	39340343	39340344	+	In_Frame_Ins	INS	-	-	CCG			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chr19:39340343_39340344insCCG	ENST00000221419.5	-	1	629_630	c.263_264insCGG	c.(262-264)ggg>gCGGgg	p.87_88insA	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	87	Gly-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GCCTCACCccaccgccgccgcc	0.718													3	5	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154158428	154158428	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T8-01A-11D-A34J-08	TCGA-P3-A6T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc9ac037-dff4-4612-858d-9267fd453374	bad8733d-efb2-4846-bca8-00040506d466	g.chrX:154158428delT	ENST00000360256.4	-	14	3837	c.3637delA	c.(3637-3639)ttfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTGAATTTTTTTTTCT	0.328													14	20	---	---	---	---					
