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
ZNF569	148266	broad.mit.edu	37	19	37904008	37904008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:37904008C>A	ENST00000316950.6	-	6	2109	c.1552G>T	c.(1552-1554)Gga>Tga	p.G518*	ZNF569_ENST00000392149.2_Nonsense_Mutation_p.G518*|ZNF569_ENST00000392150.2_Nonsense_Mutation_p.G359*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTTTCTCTCCAGTATGAACT	0.368000													41	71					1.30998e-17	1.96335e-17	1	1	0
ZNF638	27332	broad.mit.edu	37	2	71633387	71633387	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:71633387A>T	ENST00000409544.1	+	19	3760	c.3130A>T	c.(3130-3132)Aac>Tac	p.N1044Y	ZNF638_ENST00000355812.3_Missense_Mutation_p.N1044Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.N1044Y	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1044					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGTAATAGAAACAAGGTAAC	0.353000													8	52					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21894003	21894003	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:21894003G>C	ENST00000328843.6	+	69	11184	c.11153G>C	c.(11152-11154)aGa>aCa	p.R3718T	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3711T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3718					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGCAGCAAGAGCATCTCTT	0.378000									Kartagener syndrome				14	23					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167308	64167308	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:64167308T>C	ENST00000395391.1	+	4	2001	c.626T>C	c.(625-627)aTt>aCt	p.I209T	ZNF107_ENST00000344930.3_Missense_Mutation_p.I209T|ZNF107_ENST00000423627.1_Missense_Mutation_p.I209T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATAAAATAATTCATACTGGA	0.373000													4	64					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569468	142569468	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:142569468G>C	ENST00000359396.3	-	15	2415	c.2170C>G	c.(2170-2172)Cag>Gag	p.Q724E		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	724					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGTCAGATCTGATATTCCCAG	0.522000													15	53					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177143572	177143572	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:177143572C>A	ENST00000296525.3	-	3	390		c.e3-1		ASB5_ENST00000512254.1_Splice_Site|ASB5_ENST00000511879.1_Splice_Site	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5						intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CATTATAACCCTAAATGTGGC	0.393000													4	45					0.014758	0.0150571	1	1	0
PCDHB11	56125	broad.mit.edu	37	5	140579376	140579376	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140579376A>G	ENST00000354757.3	+	1	29	c.29A>G	c.(28-30)cAg>cGg	p.Q10R	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		10					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q10L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACTCAGCAGATAAGGCAA	0.507000													18	39					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48292536	48292536	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:48292536A>G	ENST00000285737.4	+	4	701	c.608A>G	c.(607-609)gAt>gGt	p.D203G	LONP2_ENST00000535754.1_Missense_Mutation_p.D159G	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	203	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGATTTTAGATGCTGTGAGC	0.398000													15	29					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621413	76621413	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:76621413G>T	ENST00000264917.5	+	3	494	c.449G>T	c.(448-450)tGg>tTg	p.W150L	PDE8B_ENST00000346042.3_Missense_Mutation_p.W150L|PDE8B_ENST00000340978.3_Missense_Mutation_p.W150L|PDE8B_ENST00000342343.4_Missense_Mutation_p.W130L|PDE8B_ENST00000333194.4_Missense_Mutation_p.W150L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	150					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGCTTCTGGTGGGCCTGCGAC	0.413000													19	101					1.33834e-09	1.68407e-09	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97717496	97717496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:97717496G>T	ENST00000375315.2	+	7	1699	c.1699G>T	c.(1699-1701)Gga>Tga	p.G567*	C9orf3_ENST00000297979.5_Nonsense_Mutation_p.G468*	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	567					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAGTGACTCGGGAGCATCTGT	0.373000													17	25					1.67942e-08	2.06172e-08	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113249468	113249468	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:113249468C>A	ENST00000297405.5	-	67	10822	c.10578G>T	c.(10576-10578)ggG>ggT	p.G3526G	CSMD3_ENST00000455883.2_Silent_p.G3357G|CSMD3_ENST00000352409.3_Silent_p.G3456G|CSMD3_ENST00000343508.3_Silent_p.G3486G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3526						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTTAACTCTCCCAGTGGAAG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	99					8.73648e-17	1.2839e-16	1	1	0
DMBX1	127343	broad.mit.edu	37	1	46977961	46977961	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:46977961T>A	ENST00000371956.4	+	4	959	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	DMBX1_ENST00000360032.3_Missense_Mutation_p.L310Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	315					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTGGGCTCACTGCACTGCCAG	0.682000													22	39					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75706659	75706659	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:75706659C>G	ENST00000409445.3	-	8	881	c.685G>C	c.(685-687)Gca>Cca	p.A229P	CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.A179P	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	229							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ACTTGCTCTGCAACAATCTGT	0.343000													18	33					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943569	98943569	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:98943569G>T	ENST00000254898.5	+	3	762	c.531G>T	c.(529-531)gtG>gtT	p.V177V	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Silent_p.V177V|MATN2_ENST00000520016.1_Silent_p.V177V|MATN2_ENST00000524308.1_Silent_p.V177V	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	177	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGGACTCCGTGGCCGAGGTGG	0.577000													11	37					4.68919e-08	5.61958e-08	1	1	0
SLC2A3	6515	broad.mit.edu	37	12	8074210	8074210	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:8074210G>C	ENST00000075120.7	-	10	1530	c.1290C>G	c.(1288-1290)taC>taG	p.Y430*		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	430					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TAATAAAAACGTAGGCTCCTA	0.403000													24	66					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706075	30706075	+	Silent	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:30706075A>G	ENST00000256246.2	-	1	533	c.459T>C	c.(457-459)ggT>ggC	p.G153G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	153										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGAAAAATTACCTTGGTCCT	0.453000													39	92					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37367788	37367788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:37367788A>T	ENST00000529555.1	+	2	844	c.56A>T	c.(55-57)gAa>gTa	p.E19V	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E19V|ZNF345_ENST00000420450.1_Missense_Mutation_p.E19V			Q14585	ZN345_HUMAN	zinc finger protein 345	19					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.E19G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGATTGGGAATGTAAAAAC	0.368000													42	81					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819926	50819926	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:50819926C>T	ENST00000374115.3	+	1	1580	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	380					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.F380F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCGCTCCTTCGCGCCGCTAG	0.677000													7	25					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726726	63726726	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:63726726C>A	ENST00000421025.1	+	5	984	c.715C>A	c.(715-717)Ccc>Acc	p.P239T	ZNF679_ENST00000255746.4_Missense_Mutation_p.P239T	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGGAGAGAAACCCTACAGATG	0.408000													8	31					5.18039e-06	5.8815e-06	1	1	0
CLEC6A	93978	broad.mit.edu	37	12	8628779	8628779	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:8628779C>A	ENST00000382073.3	+	5	614	c.428C>A	c.(427-429)cCa>cAa	p.P143Q		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	143	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ctttcagacccacaaggtaat	0.383000													16	86					1.99824e-07	2.32999e-07	1	1	0
NCDN	23154	broad.mit.edu	37	1	36026118	36026118	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:36026118C>A	ENST00000373243.2	+	3	749	c.366C>A	c.(364-366)gcC>gcA	p.A122A	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Silent_p.A105A|NCDN_ENST00000356090.4_Silent_p.A122A	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	122					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACTGGCCGCCCATCCCCAAG	0.627000													33	165					8.4185e-14	1.18251e-13	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554325	20554325	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:20554325C>T	ENST00000329697.6	-	12	1588	c.1420G>A	c.(1420-1422)Gga>Aga	p.G474R	ACSM2B_ENST00000565322.1_Missense_Mutation_p.G395R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G474R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G474R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	474					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCGAGGGTCCAATCCGGTAC	0.567000													9	105					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508475	144508475	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:144508475G>A	ENST00000367568.4	+	2	894	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	237	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TGGTGGAGAAGCAGGCCGACA	0.632000									Familial Hemophagocytic Lymphohistiocytosis				24	10					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94046494	94046494	+	Splice_Site	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:94046494G>A	ENST00000553484.1	+	19	2587		c.e19-1		UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGTCTTTCAGATGGAGTTAC	0.398000													25	31					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559860	33559860	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:33559860A>T	ENST00000228567.3	-	3	1237	c.941T>A	c.(940-942)cTa>cAa	p.L314Q	SYT10_ENST00000535526.1_Missense_Mutation_p.L133Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	314	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACTGAAATGTAGTTTTCGGTT	0.358000													31	51					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102376422	102376422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:102376422C>A	ENST00000369138.1	+	13	2490	c.2000C>A	c.(1999-2001)cCt>cAt	p.P667H	GRIK2_ENST00000421544.1_Missense_Mutation_p.P667H|GRIK2_ENST00000318991.6_Missense_Mutation_p.P667H|GRIK2_ENST00000369137.3_Missense_Mutation_p.P591H|GRIK2_ENST00000413795.1_Missense_Mutation_p.P667H|GRIK2_ENST00000369134.4_Missense_Mutation_p.P618H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	667					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	atggaatcccctattgactct	0.423000													37	28					4.65686e-17	6.91092e-17	1	1	0
AFP	174	broad.mit.edu	37	4	74308073	74308073	+	Nonsense_Mutation	SNP	G	G	A	rs121912685		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:74308073G>A	ENST00000395792.2	+	5	643	c.543G>A	c.(541-543)tgG>tgA	p.W181*	AFP_ENST00000226359.2_Nonsense_Mutation_p.W181*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	181	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTCTTTGGGCTGCTCGCT	0.373000									Alpha-Fetoprotein, Hereditary Persistence of				15	51					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483287	56483287	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:56483287T>C	ENST00000370765.6	-	23	5652	c.5545A>G	c.(5545-5547)Atg>Gtg	p.M1849V	DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1264					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTGGTCCATTTTTTGCTTC	0.408000													23	103					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70092042	70092042	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:70092042A>G	ENST00000282570.3	+	11	1404	c.1153A>G	c.(1153-1155)Atc>Gtc	p.I385V		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	385					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCTCAAGAAATCAATAAAGA	0.313000													12	49					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1099771	1099771	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:1099771G>T	ENST00000441003.2	+	40	7395	c.7368G>T	c.(7366-7368)gtG>gtT	p.V2456V		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4818						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TAGGCTGTGTGGGACCTGACA	0.572000													26	40					2.44723e-14	3.47795e-14	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113276039	113276039	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:113276039C>A	ENST00000297405.5	-	61	9935	c.9691G>T	c.(9691-9693)Gtt>Ttt	p.V3231F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3062F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3161F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3191F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3231	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGCAGGTAACAGCTGCAATT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	44					1.67942e-08	2.06172e-08	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44929567	44929567	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:44929567A>G	ENST00000377967.4	+	17	2708	c.2667A>G	c.(2665-2667)atA>atG	p.I889M	KDM6A_ENST00000536777.1_Missense_Mutation_p.I844M|KDM6A_ENST00000382899.4_Missense_Mutation_p.I896M|KDM6A_ENST00000543216.1_Missense_Mutation_p.I810M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	889					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTGTGTCCATATACCCCAGCT	0.438000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								14	6					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100779054	100779054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:100779054G>T	ENST00000223095.4	+	7	1216	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D	SERPINE1_ENST00000445463.2_Missense_Mutation_p.E338D	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	353					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGTGAACGAGAGTGGCACGG	0.592000													9	38					1.12685e-05	1.26744e-05	1	1	0
KDM2A	22992	broad.mit.edu	37	11	67020928	67020928	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:67020928G>A	ENST00000529006.2	+	19	3383	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	KDM2A_ENST00000530342.1_Silent_p.L540L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Silent_p.L437L|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTGCAGGACTGAAAGACCTCC	0.517000													63	126					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073595	134073595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:134073595G>T	ENST00000264360.4	+	1	3126	c.2300G>T	c.(2299-2301)gGt>gTt	p.G767V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	767	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGCGGAGGTTCGACCTGC	0.587000													7	30					1.06961e-07	1.26676e-07	1	1	0
TNPO2	30000	broad.mit.edu	37	19	12813732	12813732	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:12813732C>A	ENST00000425528.1	-	21	2567	c.2209_splice	c.e21-1	p.G737_splice	TNPO2_ENST00000592287.1_Splice_Site_p.G737_splice|TNPO2_ENST00000441499.1_Splice_Site_p.G737_splice|TNPO2_ENST00000450764.2_Splice_Site_p.G737_splice|TNPO2_ENST00000588216.1_Splice_Site_p.G737_splice|TNPO2_ENST00000356861.5_Splice_Site_p.G737_splice			O14787	TNPO2_HUMAN	transportin 2	737					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATCTCTGCCCCTGGGGGAGC	0.612000													46	45					5.2432e-18	7.87785e-18	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558992	140558992	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140558992G>T	ENST00000239444.2	+	1	1622	c.1377G>T	c.(1375-1377)ctG>ctT	p.L459L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		459	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTACACCCTGTTCGTCCGCG	0.612000													26	125					2.08457e-15	2.99781e-15	1	1	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000													9	73					1.3612e-06	1.56902e-06	1	1	0
ZNF264	9422	broad.mit.edu	37	19	57723702	57723702	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:57723702T>A	ENST00000263095.6	+	4	1651	c.1237T>A	c.(1237-1239)Tac>Aac	p.Y413N	ZNF264_ENST00000536056.1_Missense_Mutation_p.Y413N	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCACCGATCCTACCTCAAGAG	0.522000													17	69					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477605	6477605	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:6477605G>T	ENST00000525074.1	-	6	1745	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S	TRIM3_ENST00000345851.3_Missense_Mutation_p.R451S|TRIM3_ENST00000537602.1_Missense_Mutation_p.R373S|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.R332S|TRIM3_ENST00000359518.3_Missense_Mutation_p.R451S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	451					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCTACGCACTGCCTTC	0.642000													19	46					1.56452e-12	2.12832e-12	1	1	0
PRB1	5542	broad.mit.edu	37	12	11506889	11506889	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:11506889G>T	ENST00000500254.2	-	3	185	c.148C>A	c.(148-150)Ccc>Acc	p.P50T	PRB1_ENST00000545626.1_Missense_Mutation_p.P50T|PRB1_ENST00000546254.1_Missense_Mutation_p.P50T	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	233						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGTGGGGGGCCCTGGGGC	0.567000													103	60					1.26289e-39	2.10134e-39	1	1	0
IP6K3	117283	broad.mit.edu	37	6	33703157	33703157	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:33703157T>A	ENST00000451316.1	-	3	632	c.97A>T	c.(97-99)Aag>Tag	p.K33*	IP6K3_ENST00000293756.4_Nonsense_Mutation_p.K33*	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	33					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCGTCATACTTCATCACGCTC	0.617000													5	37					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530472	5530472	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:5530472G>C	ENST00000311659.4	-	2	464	c.317C>G	c.(316-318)tCt>tGt	p.S106C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	106										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGGGACAGAGGCAGCTGG	0.607000													18	44					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70461988	70461988	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:70461988G>A	ENST00000503640.1	-	3	1031	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	UGT2A2_ENST00000457664.2_Missense_Mutation_p.L335F|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000502343.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	326					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATCTGGGCAAGGGCTGAGGCA	0.428000													14	43					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018104	58018104	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:58018104C>T	ENST00000282292.4	+	4	781	c.641C>T	c.(640-642)aCt>aTt	p.T214I	ZNF773_ENST00000598770.1_Missense_Mutation_p.T213I|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGACTGCACACTGGGGAAAAG	0.418000													45	58					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857638	90857638	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:90857638C>A	ENST00000394980.1	+	7	3126	c.2807C>A	c.(2806-2808)aCa>aAa	p.T936K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.T678K|MMRN1_ENST00000264790.2_Missense_Mutation_p.T936K			Q13201	MMRN1_HUMAN	multimerin 1	936					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATGCTTCTACAAGTGTGTCA	0.373000													27	60					2.79863e-10	3.62741e-10	1	1	0
BMP6	654	broad.mit.edu	37	6	7845549	7845549	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:7845549C>A	ENST00000283147.6	+	2	1000	c.841C>A	c.(841-843)Cag>Aag	p.Q281K		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	281					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCAAGTCTTACAGGAGCATCA	0.483000													12	56					0.000978159	0.00103651	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50683039	50683039	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:50683039G>A	ENST00000008391.3	+	2	478	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	84							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGCCACCCGGCCGTCACCCC	0.592000													46	31					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972069	56972069	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:56972069A>G	ENST00000591790.1	-	3	1577	c.149T>C	c.(148-150)cTg>cCg	p.L50P	ZNF667_ENST00000292069.6_Missense_Mutation_p.L50P|ZNF667_ENST00000504904.3_Missense_Mutation_p.L50P|ZNF667_ENST00000342634.3_Missense_Mutation_p.L143P			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAGCGAGACCAGGTTCCGGTA	0.517000													20	50					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108371675	108371675	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:108371675C>T	ENST00000263054.6	-	22	3034	c.3027G>A	c.(3025-3027)ctG>ctA	p.L1009L	SORCS1_ENST00000344440.6_Silent_p.L1009L|SORCS1_ENST00000369698.1_Silent_p.L544L|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1009						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCACTTCCACCAGGGATTTTT	0.483000													7	29					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798420	185798420	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:185798420C>A	ENST00000302277.6	+	3	940	c.346C>A	c.(346-348)Cgc>Agc	p.R116S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGCACTCCAACGCCTGCACAA	0.398000													15	36					6.31663e-08	7.51032e-08	1	1	0
COL21A1	81578	broad.mit.edu	37	6	56035587	56035587	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:56035587C>A	ENST00000244728.5	-	5	1283	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	COL21A1_ENST00000370819.1_Missense_Mutation_p.D296Y|COL21A1_ENST00000535941.1_Missense_Mutation_p.D296Y	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	296	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCATAAATCCCAAATTTTC	0.328000													11	3					3.86212e-05	4.28022e-05	1	1	0
PDE6B	5158	broad.mit.edu	37	4	647649	647649	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:647649G>A	ENST00000255622.6	+	4	763	c.720G>A	c.(718-720)ctG>ctA	p.L240L	RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Silent_p.L240L|PDE6B_ENST00000429163.2_5'UTR	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	240					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGGTGCTGCTGTGGTCGGCCA	0.622000													3	45					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976822	106976822	+	Silent	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:106976822A>T	ENST00000369701.3	+	19	2903	c.2676A>T	c.(2674-2676)acA>acT	p.T892T	SORCS3_ENST00000369699.4_Silent_p.T178T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	892	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCAGGTGACAGCCTATGCAG	0.527000													13	34					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89028371	89028371	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:89028371C>G	ENST00000263321.5	+	5	1929	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	476					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGGATCTGGTCATGGCTCCTT	0.498000													23	46					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573455	140573455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140573455G>T	ENST00000239446.4	+	1	1514	c.1330G>T	c.(1330-1332)Gtc>Ttc	p.V444F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.587000													23	70					1.03484e-13	1.45021e-13	1	1	0
MIR154	406946	broad.mit.edu	37	14	101526156	101526156	+	RNA	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:101526156G>T	ENST00000385243.1	+	0	65					NR_029704.1																						ATACACGGTTGACCTATTTTT	0.507000													38	39					2.05212e-20	3.16194e-20	1	1	0
MUC16	94025	broad.mit.edu	37	19	9047471	9047471	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:9047471G>T	ENST00000397910.4	-	5	34363	c.34160C>A	c.(34159-34161)gCc>gAc	p.A11387D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11389	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTGAAGTGGCTTCTGCCCC	0.473000													33	53					1.08312e-15	1.56135e-15	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67133539	67133539	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:67133539C>T	ENST00000284425.2	-	3	373	c.199G>A	c.(199-201)Gta>Ata	p.V67I	ABCA6_ENST00000590645.1_Missense_Mutation_p.V67I	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	67					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AATTTATCTACCCTTCCCAGA	0.388000													49	30					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181664	57181664	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:57181664G>T	ENST00000504228.1	+	6	2101	c.1996G>T	c.(1996-1998)Gca>Tca	p.A666S	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A659S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A666S			Q6ZU35	K1211_HUMAN	KIAA1211	666										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTCCGCACTCGCAGAATGGGC	0.682000													14	27					7.93312e-07	9.17932e-07	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57164480	57164480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:57164480C>T	ENST00000504228.1	+	2	190	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	KIAA1211_ENST00000541073.1_Silent_p.H14H|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q29*			Q6ZU35	K1211_HUMAN	KIAA1211	29										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAATGTCACAGGACAACAT	0.478000													27	22					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799182	133799182	+	Silent	SNP	C	C	A	rs114210057	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:133799182C>A	ENST00000372338.4	-	4	1040	c.798G>T	c.(796-798)ccG>ccT	p.P266P	FIBCD1_ENST00000448616.1_Silent_p.P266P|FIBCD1_ENST00000253018.4_Silent_p.P108P|FIBCD1_ENST00000372337.2_Silent_p.P108P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	266	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGAAGCCGGCCGGGTAGTGGG	0.692000													14	24					4.93089e-13	6.86235e-13	1	1	0
TMEM57	55219	broad.mit.edu	37	1	25785233	25785233	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:25785233G>A	ENST00000374343.4	+	6	1183	c.1004G>A	c.(1003-1005)aGt>aAt	p.S335N	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	335						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTCGAAGTCATAGCGCC	0.423000													26	180					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774251	104774251	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:104774251C>A	ENST00000532510.1	-	0	3285																											TGGACTGTTGCCTCCGGACTT	0.423000													3	22					0.004672	0.00487373	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140711949	140711949	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:140711949G>T	ENST00000460843.1	+	24	3460	c.3433G>T	c.(3433-3435)Gac>Tac	p.D1145Y		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1145	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GTCCCTGCAGGACATCCCACC	0.607000													31	34					8.16721e-17	1.20611e-16	1	1	0
CYP3A4	1576	broad.mit.edu	37	7	99377624	99377624	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:99377624G>A	ENST00000336411.2	-	2	339	c.156C>T	c.(154-156)tcC>tcT	p.S52S	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	52					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCTTATGGTAGGACAAAATAT	0.423000													7	37					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283226	238283226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:238283226C>A	ENST00000295550.4	-	8	3960	c.3508G>T	c.(3508-3510)Gct>Tct	p.A1170S	COL6A3_ENST00000346358.4_Missense_Mutation_p.A970S|COL6A3_ENST00000353578.4_Missense_Mutation_p.A964S|COL6A3_ENST00000409809.1_Missense_Mutation_p.A964S|COL6A3_ENST00000347401.3_Missense_Mutation_p.A969S|COL6A3_ENST00000392004.3_Missense_Mutation_p.A964S|COL6A3_ENST00000472056.1_Missense_Mutation_p.A563S|COL6A3_ENST00000392003.2_Missense_Mutation_p.A763S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1170	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGATGTCAGCGTTCCCGATG	0.607000													22	42					6.44725e-10	8.23285e-10	1	1	0
ALS2CL	259173	broad.mit.edu	37	3	46730923	46730923	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:46730923T>G	ENST00000318962.4	-	2	91	c.8A>C	c.(7-9)aAc>aCc	p.N3T	ALS2CL_ENST00000415953.1_Missense_Mutation_p.N3T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	3					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTCCTCAGGGTTGCACATGGC	0.637000													7	8					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013698	247013698	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:247013698C>T	ENST00000366508.1	-	33	5851	c.5715G>A	c.(5713-5715)agG>agA	p.R1905R	AHCTF1_ENST00000326225.3_Silent_p.R1879R|AHCTF1_ENST00000391829.2_Silent_p.R1870R|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1870	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTAGGAGTCCTTTTTGTAA	0.328000													38	40					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	472913	472913	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:472913T>C	ENST00000217244.3	-	9	981	c.606A>G	c.(604-606)ctA>ctG	p.L202L	CSNK2A1_ENST00000349736.5_Silent_p.L202L|CSNK2A1_ENST00000400227.3_Silent_p.L202L|CSNK2A1_ENST00000400217.1_Silent_p.L66L|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	202	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AGTCTACAAGTAGCTCAGGAC	0.398000													19	34					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544146	73544146	+	Missense_Mutation	SNP	G	G	A	rs111033491		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:73544146G>A	ENST00000224721.6	+	41	5491	c.5486G>A	c.(5485-5487)cGt>cAt	p.R1829H		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1824	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCTGTGCCCGTGACCGGGGG	0.617000													8	33					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618902	7618902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:7618902C>A	ENST00000256861.6	-	10	1570	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A498S|ITIH5_ENST00000446830.2_Missense_Mutation_p.A280S|ITIH5_ENST00000298441.6_Missense_Mutation_p.A284S|ITIH5_ENST00000397145.2_Missense_Mutation_p.A498S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	498					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTCTTGGTGGCCTGCACCACT	0.587000													17	34					3.52763e-06	4.02017e-06	1	1	0
USH2A	7399	broad.mit.edu	37	1	216498862	216498862	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:216498862G>A	ENST00000366943.2	-	6	1314	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	USH2A_ENST00000307340.3_Missense_Mutation_p.R310W|USH2A_ENST00000366942.3_Missense_Mutation_p.R310W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	310	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTGGACCCGCGGGTGGCTG	0.532000										HNSCC(13;0.011)			14	62					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32339229	32339229	+	Silent	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr13:32339229A>C	ENST00000298386.2	+	4	446	c.375A>C	c.(373-375)gtA>gtC	p.V125V	RXFP2_ENST00000380314.1_Silent_p.V125V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	125						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGAATGTGTAAATGGTGACT	0.333000													14	49					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648250	112648250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:112648250C>A	ENST00000471858.1	-	3	470	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	CD200R1_ENST00000308611.3_Missense_Mutation_p.G103C|CD200R1_ENST00000440122.2_Missense_Mutation_p.G103C|CD200R1_ENST00000295863.4_Missense_Mutation_p.G58C|CD200R1_ENST00000490004.1_Missense_Mutation_p.G80C	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	80	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GAAGGCTGGCCTCTCAGGATT	0.428000													22	84					7.41877e-09	9.18225e-09	1	1	0
NPAT	4863	broad.mit.edu	37	11	108043050	108043050	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:108043050T>A	ENST00000278612.8	-	13	2766	c.2661A>T	c.(2659-2661)gtA>gtT	p.V887V		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	887					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCAACACCACTACATTAGACT	0.448000													53	135					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390103	27390103	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:27390103C>A	ENST00000379214.4	-	18	2610	c.2167G>T	c.(2167-2169)Gtt>Ttt	p.V723F	LGR4_ENST00000389858.4_Missense_Mutation_p.V699F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	723						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTGTAGATAACGGCCATTAAT	0.388000													47	60					1.8453e-21	2.86519e-21	1	1	0
KCNV1	27012	broad.mit.edu	37	8	110980758	110980758	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:110980758G>T	ENST00000524391.1	-	4	2094	c.1062C>A	c.(1060-1062)tcC>tcA	p.S354S	KCNV1_ENST00000297404.1_Silent_p.S354S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	354						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGATTCCCACGGATAGAAATA	0.468000													26	47					1.64293e-13	2.29176e-13	1	1	0
MAP4	4134	broad.mit.edu	37	3	47960230	47960230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:47960230C>A	ENST00000426837.2	-	7	769	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	MAP4_ENST00000395734.3_Nonsense_Mutation_p.E211*|MAP4_ENST00000383737.4_Nonsense_Mutation_p.E211*|MAP4_ENST00000360240.6_Nonsense_Mutation_p.E211*			P27816	MAP4_HUMAN	microtubule-associated protein 4	211					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGAGGAGGTTCTGCAACAGCC	0.443000													22	44					5.26018e-13	7.28704e-13	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8376715	8376715	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:8376715G>T	ENST00000381196.4	-	35	4941	c.4398C>A	c.(4396-4398)gaC>gaA	p.D1466E	PTPRD_ENST00000397617.3_Missense_Mutation_p.D1059E|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1060E|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1466E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1453E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1444E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1466E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D1056E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D1059E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D1056E|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1059E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1466	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCAATACTGGTCACACTTCA	0.443000										TSP Lung(15;0.13)			18	23					6.49762e-13	8.93978e-13	1	1	0
KALRN	8997	broad.mit.edu	37	3	124437978	124437978	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:124437978G>T	ENST00000360013.3	+	60	8749	c.8622G>T	c.(8620-8622)ctG>ctT	p.L2874L	KALRN_ENST00000428018.2_Silent_p.L1145L|KALRN_ENST00000291478.4_Silent_p.L1177L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2873	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGTCATGCTGAGTGGGGTCT	0.532000													17	46					3.52763e-06	4.02017e-06	1	1	0
PGAM4	441531	broad.mit.edu	37	X	77224974	77224974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:77224974G>C	ENST00000458128.1	-	1	161	c.162C>G	c.(160-162)atC>atG	p.I54M	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	54					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						AGGTGAGGCAGATGTCAAACT	0.617000													69	24					0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166033914	166033914	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:166033914C>A	ENST00000306480.5	-	1	157	c.12G>T	c.(10-12)ggG>ggT	p.G4G	TMEM192_ENST00000506087.1_Intron	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	4						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCATCCTGCCCCCCGCCGCCA	0.706000													10	11					0.000442599	0.00047315	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157660142	157660142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:157660142G>T	ENST00000368184.3	-	9	1884	c.1593C>A	c.(1591-1593)aaC>aaA	p.N531K	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.N531K	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	531	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCAGAGAGAGGTTGAAGGATG	0.532000													21	80					4.96729e-08	5.91764e-08	1	1	0
DDX1	1653	broad.mit.edu	37	2	15747309	15747309	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:15747309G>C	ENST00000381341.2	+	14	1217	c.828G>C	c.(826-828)caG>caC	p.Q276H	DDX1_ENST00000233084.3_Missense_Mutation_p.Q276H			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	276	Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTAATGCACAGGTGACACAAA	0.353000													32	62					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110083	98110083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:98110083C>A	ENST00000383695.1	+	1	574	c.574C>A	c.(574-576)Cct>Act	p.P192T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTGTATTAACCCTTATATCAA	0.299000													18	66					5.01169e-05	5.52384e-05	1	1	0
CDH18	1016	broad.mit.edu	37	5	19544072	19544072	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:19544072G>T	ENST00000507958.1	-	11	2286	c.1296C>A	c.(1294-1296)aaC>aaA	p.N432K	CDH18_ENST00000511273.1_Missense_Mutation_p.N432K|CDH18_ENST00000502796.1_Missense_Mutation_p.N432K|CDH18_ENST00000506372.1_Missense_Mutation_p.N432K|CDH18_ENST00000274170.4_Missense_Mutation_p.N432K|CDH18_ENST00000382275.1_Missense_Mutation_p.N432K			Q13634	CAD18_HUMAN	cadherin 18, type 2	432	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGCATCAATGTTGAAAAATC	0.353000													26	59					9.57634e-11	1.25742e-10	1	1	0
TPSB2	64499	broad.mit.edu	37	16	1279674	1279674	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:1279674C>A	ENST00000430512.2	-	0	177				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCTGCCAGGGCCACTTGCTCC	0.697000													6	35					0.0293803	0.0297747	1	1	0
ANKRD33	341405	broad.mit.edu	37	12	52284470	52284470	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:52284470T>A	ENST00000301190.6	+	5	967	c.740T>A	c.(739-741)cTg>cAg	p.L247Q	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.L53Q|ANKRD33_ENST00000340970.4_Missense_Mutation_p.L122Q	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	122										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGGCAGCTGCTGAGGCGGCCC	0.677000													9	21					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122718566	122718566	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:122718566C>A	ENST00000306467.5	-	13	2182	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	CEP120_ENST00000328236.5_Missense_Mutation_p.Q626H|CEP120_ENST00000306481.6_Missense_Mutation_p.Q600H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	626						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ACGGCTTTTGCTGTACGGCAG	0.393000													18	46					6.94344e-10	8.84776e-10	1	1	0
DNAJB11	51726	broad.mit.edu	37	3	186299189	186299189	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:186299189G>T	ENST00000439351.1	+	6	1415	c.486G>T	c.(484-486)caG>caT	p.Q162H	DNAJB11_ENST00000265028.3_Missense_Mutation_p.Q162H			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	162					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TGGCAAGGCAGGCTCCTGGCA	0.512000													7	43					0.0293803	0.0297747	1	1	0
TENM2	57451	broad.mit.edu	37	5	167674518	167674518	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:167674518C>T	ENST00000519204.1	+	26	6329	c.6211C>T	c.(6211-6213)Ctg>Ttg	p.L2071L	TENM2_ENST00000403607.2_Silent_p.L2016L|TENM2_ENST00000520394.1_Silent_p.L1953L|TENM2_ENST00000545108.1_Silent_p.L2191L|TENM2_ENST00000518659.1_Silent_p.L2192L					teneurin transmembrane protein 2																		GGAGCTAAAACTGGGGCCCTA	0.572000													12	24					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108388547	108388547	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:108388547G>C	ENST00000361582.3	+	22	2673	c.2443G>C	c.(2443-2445)Gct>Cct	p.A815P	DZIP3_ENST00000463306.1_Missense_Mutation_p.A815P	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	815					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCAAATCCATGCTAAAGATAA	0.343000													12	36					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626470	55626470	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:55626470A>T	ENST00000373965.2	-	28	4064	c.3670T>A	c.(3670-3672)Tac>Aac	p.Y1224N	PCDH15_ENST00000437009.1_Missense_Mutation_p.Y1146N|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y1222N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y1195N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.Y828N|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y1224N|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y1180N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y1217N|PCDH15_ENST00000463095.1_5'UTR	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1217	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACTTGAAGTAGGATCTCCTC	0.398000										HNSCC(58;0.16)			9	45					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130586703	130586703	+	Silent	SNP	G	G	T	rs45439096		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:130586703G>T	ENST00000344849.3	-	8	1294	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Silent_p.P338P			P17813	EGLN_HUMAN	endoglin	338	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATCGGTGCGGGTGAGGTCT	0.587000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				11	22					4.68919e-08	5.61958e-08	1	1	0
PEG3	5178	broad.mit.edu	37	19	57328491	57328491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:57328491G>T	ENST00000326441.9	-	10	1682	c.1319C>A	c.(1318-1320)aCc>aAc	p.T440N	PEG3_ENST00000593695.1_Missense_Mutation_p.T314N|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316N|PEG3_ENST00000423103.2_Missense_Mutation_p.T440N|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	440					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGTGACTCGGTAAAGGAGGG	0.498000													47	129					2.77807e-22	4.3358e-22	1	1	0
FSCB	84075	broad.mit.edu	37	14	44974065	44974065	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:44974065G>T	ENST00000340446.4	-	1	2417	c.2126C>A	c.(2125-2127)gCa>gAa	p.A709E		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	709						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGCCTCTTCTGCAGGGACATC	0.537000													20	23					4.96729e-08	5.91764e-08	1	1	0
REXO1	57455	broad.mit.edu	37	19	1827786	1827786	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:1827786C>A	ENST00000170168.4	-	2	1096	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	334						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCTCCCGCAGGCCGCCCC	0.726000													6	4					0.00116845	0.00123166	1	1	0
LGALS4	3960	broad.mit.edu	37	19	39292721	39292721	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:39292721C>T	ENST00000307751.4	-	9	1213	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	246	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCCGGACCACGGTACCGTTG	0.557000													31	60					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119905	103119905	+	Splice_Site	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:103119905A>G	ENST00000295269.4	+	3	1177		c.e3-1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTTTTGCCTAGGTCTTATAC	0.338000													4	21					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158581118	158581118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:158581118C>G	ENST00000368148.3	-	52	7376	c.7196G>C	c.(7195-7197)cGg>cCg	p.R2399P	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2396P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2399					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCGACCCCGTGGGTCCAT	0.443000													48	50					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78329134	78329134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:78329134G>T	ENST00000255189.3	-	8	1319	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	DMGDH_ENST00000540686.1_Missense_Mutation_p.R51S|DMGDH_ENST00000380311.4_Missense_Mutation_p.R230S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	431					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGCCATAGCGATTAGGATCC	0.423000													38	63					8.73648e-17	1.2839e-16	1	1	0
VCAN	1462	broad.mit.edu	37	5	82836456	82836456	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:82836456T>C	ENST00000265077.3	+	8	8199	c.7634T>C	c.(7633-7635)aTa>aCa	p.I2545T	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I1558T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2545	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATATTATCATAGACCTGGAC	0.378000													21	76					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298716	158298716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:158298716C>A	ENST00000368168.3	-	5	1082	c.975G>T	c.(973-975)agG>agT	p.R325S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	325					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.R325R(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTCACCGGCGCCTCATATACC	0.383000													8	37					0.27861	0.279072	1	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253728	32253728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr21:32253728C>A	ENST00000332378.4	-	1	146	c.116G>T	c.(115-117)gGc>gTc	p.G39V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	39						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAAACAGATGCCGCCCAGGCA	0.572000													17	28					2.35188e-11	3.11521e-11	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85731139	85731139	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:85731139T>A	ENST00000322366.6	-	14	2653	c.2246A>T	c.(2245-2247)gAg>gTg	p.E749V	WDFY3_ENST00000295888.4_Missense_Mutation_p.E749V|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	749						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACATCTTCCTCTAAAAGTCT	0.398000													38	86					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109893983	109893983	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:109893983C>G	ENST00000228495.6	-	6	944	c.663G>C	c.(661-663)cgG>cgC	p.R221R	KCTD10_ENST00000424763.2_Silent_p.R40R|KCTD10_ENST00000540089.1_Silent_p.R40R|KCTD10_ENST00000540411.1_Silent_p.R195R|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	221					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CAGCAATCTTCCGGCCCTGAC	0.478000													10	76					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149551	34149551	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:34149551C>T	ENST00000346193.3	-	1	896	c.845G>A	c.(844-846)gGc>gAc	p.G282D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	282										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTCTCCCGGCCCTCACAAGG	0.582000													19	15					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087389	55087389	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:55087389C>A	ENST00000251377.3	+	7	1201	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	LILRA2_ENST00000391737.1_Silent_p.T344T|LILRA2_ENST00000251376.3_Silent_p.T356T|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.T356T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCTTCTGACCAAGGAGGGGG	0.612000													24	58					4.16121e-05	4.60324e-05	1	1	0
TULP3	7289	broad.mit.edu	37	12	3018726	3018726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:3018726C>T	ENST00000448120.2	+	2	124	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	TULP3_ENST00000397132.2_Nonsense_Mutation_p.Q25*	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	25					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAAGATGCGACAGGCTAAGCT	0.378000													41	180					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41762287	41762287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:41762287C>A	ENST00000196371.5	-	14	1424	c.1264G>T	c.(1264-1266)Gga>Tga	p.G422*	OXCT1_ENST00000510634.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000512084.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000509987.1_Nonsense_Mutation_p.G236*|OXCT1_ENST00000513081.1_5'UTR	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	422					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CCTCCCATTCCTTTCACCATC	0.393000													28	137					2.61193e-14	3.7033e-14	1	1	0
ARHGAP4	393	broad.mit.edu	37	X	153184454	153184454	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:153184454C>T	ENST00000370028.3	-	8	1041	c.984G>A	c.(982-984)acG>acA	p.T328T	ARHGAP4_ENST00000370016.1_Silent_p.T267T|ARHGAP4_ENST00000537206.1_Silent_p.T265T|ARHGAP4_ENST00000350060.5_Silent_p.T288T|ARHGAP4_ENST00000393721.1_Intron	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	288					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAGCGGCCGTGTAGCTCC	0.642000													37	12					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367063	248367063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:248367063G>T	ENST00000456743.1	+	1	732	c.694G>T	c.(694-696)Gag>Tag	p.E232*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232K(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			GGGATCTGGAGAGGGTCGTCG	0.448000													10	271					2.27111e-07	2.64306e-07	1	1	0
CCT6P1	643253	broad.mit.edu	37	7	65219610	65219610	+	RNA	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:65219610G>C	ENST00000442266.1	+	0	282																											CCTAATCATTGGAGAGCTGCT	0.413000													21	51					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887415	196887415	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:196887415A>G	ENST00000367416.2	+	10	1750	c.1613A>G	c.(1612-1614)tAt>tGt	p.Y538C	CFHR4_ENST00000367418.1_Missense_Mutation_p.Y292C|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.Y292C	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATAAAATATTATGCAAAAACA	0.299000													30	86					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333230	227333230	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:227333230G>A	ENST00000366769.3	-	8	2394	c.1103C>T	c.(1102-1104)aCa>aTa	p.T368I	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T368I	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	368	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAAATTCGATGTATCTGTTGG	0.343000													19	97					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116887422	116887422	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:116887422A>G	ENST00000355044.3	+	4	683	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.Y186C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	186	CUB.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACATCTGGCTATGCACTGTTA	0.318000													6	16					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63662049	63662049	+	Silent	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:63662049G>C	ENST00000279873.7	+	2	563	c.153G>C	c.(151-153)ccG>ccC	p.P51P		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	51					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAAGGATCCGATTTGCATAG	0.458000													13	46					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131797653	131797653	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:131797653C>A	ENST00000286355.5	-	16	5221	c.3129G>T	c.(3127-3129)gtG>gtT	p.V1043V	ADCY8_ENST00000377928.3_Silent_p.V912V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1043					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACAGGCCTGACACGGCCATGT	0.502000										HNSCC(32;0.087)			10	66					2.17888e-05	2.43711e-05	1	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875806	75875806	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:75875806G>C	ENST00000266659.3	+	2	568	c.367G>C	c.(367-369)Gac>Cac	p.D123H		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	123					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CGAAATCCAGGACTATGACTT	0.443000													60	73					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405887	20405887	+	RNA	SNP	C	C	T	rs147457236	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:20405887C>T	ENST00000580113.1	-	0	976																											GCTGCTGTGCCGGGTCCTTCA	0.577000													3	46					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21751848	21751848	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:21751848A>T	ENST00000382254.1	-	15	3469	c.2383T>A	c.(2383-2385)Taa>Aaa	p.*795K	CDH12_ENST00000522262.1_Nonstop_Mutation_p.*755K|CDH12_ENST00000504376.2_Nonstop_Mutation_p.*795K|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGACTCCCTTAAGTGACTTTA	0.413000										HNSCC(59;0.17)			36	93					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784198	9784198	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:9784198G>T	ENST00000304374.2	+	1	941	c.545G>T	c.(544-546)aGg>aTg	p.R182M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	182					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACTGGCACAGGGACCAGGCG	0.617000													18	48					1.33834e-09	1.68407e-09	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116616637	116616637	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:116616637T>G	ENST00000395715.3	-	4	2136	c.1559A>C	c.(1558-1560)aAg>aCg	p.K520T	TRPS1_ENST00000519674.1_Missense_Mutation_p.K507T|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.K511T|TRPS1_ENST00000220888.5_Missense_Mutation_p.K507T	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	507					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGTCCTTCTTTTTAGCCCC	0.453000									Langer-Giedion syndrome				32	124					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811050	123811050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:123811050C>A	ENST00000307033.2	+	1	801	c.727C>A	c.(727-729)Cac>Aac	p.H243N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTGCCTCTCACATTGCTGT	0.537000													37	200					1.36161e-19	2.07681e-19	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18625005	18625005	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:18625005C>A	ENST00000406451.3	+	3	274	c.124C>A	c.(124-126)Cgt>Agt	p.R42S	HDAC9_ENST00000441542.2_Missense_Mutation_p.R42S|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84S|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11S|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42S|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11S|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70S|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42S|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTGTTGTCCGTGAGAAGCA	0.493000													38	88					1.836e-18	2.76545e-18	1	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475710	140475710	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140475710G>T	ENST00000194155.4	+	1	1484	c.1336G>T	c.(1336-1338)Gtc>Ttc	p.V446F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.602000													14	154					3.62473e-10	4.65817e-10	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72004858	72004858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:72004858C>A	ENST00000378743.3	-	33	6107	c.5749G>T	c.(5749-5751)Gtt>Ttt	p.V1917F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1917					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCTTTAGAACAATCTCAGCA	0.303000													47	141					1.38658e-30	2.25132e-30	1	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37095392	37095392	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:37095392G>A	ENST00000421307.1	-	29	2538	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	LRRFIP2_ENST00000354379.4_Missense_Mutation_p.R385W|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.R409W|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.R409W|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.R488W|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.R706W	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	706					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TTCTCCAGCCGCTTGGCCAGG	0.542000													14	87					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915629	126915629	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:126915629G>T	ENST00000398112.1	+	2	341	c.101G>T	c.(100-102)tGg>tTg	p.W34L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TCAACCCCCTGGGTGGCCATG	0.612000													5	18					0.014758	0.0150571	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128351131	128351131	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:128351131A>T	ENST00000389524.4	+	18	2209	c.2156A>T	c.(2155-2157)aAg>aTg	p.K719M	MYO7B_ENST00000428314.1_Missense_Mutation_p.K719M|MYO7B_ENST00000409816.2_Missense_Mutation_p.K719M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	719	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGCAAGGCAAGCTCCGCCAG	0.612000													27	27					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163131739	163131739	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:163131739C>A	ENST00000313961.5	-	3	460	c.183G>T	c.(181-183)tgG>tgT	p.W61C	RGS5_ENST00000367903.3_Missense_Mutation_p.W81C|RGS5_ENST00000530507.1_Missense_Mutation_p.W61C|RGS5_ENST00000534288.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	61					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGGAATCACGCCACTGCAGGG	0.413000													4	46					0.00909568	0.0093911	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324356	31324356	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:31324356C>G	ENST00000269197.5	+	12	4544	c.4544C>G	c.(4543-4545)gCg>gGg	p.A1515G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGCCCGTGGCGTGTCCTCAG	0.542000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	68					0	0	1	0	0
LENG1	79165	broad.mit.edu	37	19	54659539	54659539	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:54659539G>A	ENST00000222224.3	-	4	901	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	239										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCCGCCGCCGGTCATCCGTC	0.677000													4	15					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121622337	121622337	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:121622337T>G	ENST00000328963.5	+	12	1464	c.1010T>G	c.(1009-1011)aTc>aGc	p.I337S	P2RX7_ENST00000541446.1_Missense_Mutation_p.I218S|P2RX7_ENST00000546057.1_Missense_Mutation_p.I507S|P2RX7_ENST00000535250.1_Missense_Mutation_p.I417S|P2RX7_ENST00000443520.3_3'UTR			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	507						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGCCTGCATCACCACCTCA	0.622000													4	24					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774867	31774867	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:31774867G>C	ENST00000396556.2	-	6	1099	c.977C>G	c.(976-978)tCc>tGc	p.S326C	OSBPL10_ENST00000438237.2_Missense_Mutation_p.S262C|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	326					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTGCTCTGTGGAATGTGACTT	0.423000													33	100					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243628	56243628	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:56243628T>A	ENST00000332836.2	-	2	1596	c.1569A>T	c.(1567-1569)atA>atT	p.I523I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	523						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGCATTGGGTTATTTCCTGCT	0.398000													32	95					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253825	55253825	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:55253825T>C	ENST00000337526.6	-	3	1653	c.1410A>G	c.(1408-1410)gcA>gcG	p.A470A	RTN4_ENST00000404909.1_Silent_p.A264A|RTN4_ENST00000405240.1_Silent_p.A264A|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Silent_p.A264A|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Silent_p.A264A|RTN4_ENST00000354474.6_Silent_p.A238A|RTN4_ENST00000317610.7_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	470					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCTCAGTTGCTGCTGGGTTAA	0.388000													65	97					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601647	31601647	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:31601647G>T	ENST00000170150.3	+	5	535	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	114						extracellular region	lipid binding										GACGCTGCCTGTGGAACTGCT	0.627000													18	33					4.75885e-15	6.82742e-15	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717137	222717137	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:222717137C>A	ENST00000343410.6	-	2	774	c.716G>T	c.(715-717)gGa>gTa	p.G239V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	239					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACACCACTCCTACCTGCTC	0.612000													35	37					8.4185e-14	1.18251e-13	1	1	0
BNIPL	149428	broad.mit.edu	37	1	151010080	151010080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:151010080G>T	ENST00000368931.3	+	2	235	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S	BNIPL_ENST00000295294.7_5'UTR	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	27					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTAGGAGCAGCCCTGAGACA	0.512000													3	11					0.004672	0.00487373	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158735719	158735719	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:158735719A>G	ENST00000335094.2	-	1	773	c.754T>C	c.(754-756)Tat>Cat	p.Y252H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGCTCCCATAGAAGATGAGA	0.537000													63	110					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128561257	128561257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:128561257C>A	ENST00000368227.3	-	5	982	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368207.3_Missense_Mutation_p.V206L|PTPRK_ENST00000532331.1_Missense_Mutation_p.V206L|PTPRK_ENST00000368226.4_Missense_Mutation_p.V206L|PTPRK_ENST00000368210.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368213.5_Missense_Mutation_p.V206L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	206	Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCTGCATTCACCTCTACATCC	0.433000													12	17					0.00185496	0.00194851	1	1	0
TGM3	7053	broad.mit.edu	37	20	2320589	2320589	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:2320589G>T	ENST00000381458.5	+	12	1953	c.1890G>T	c.(1888-1890)ctG>ctT	p.L630L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	630					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L630fs*5(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCGTGCTGATGGTGGAGG	0.647000													5	8					0.014758	0.0150571	1	1	0
CCDC112	153733	broad.mit.edu	37	5	114607027	114607027	+	Silent	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:114607027G>C	ENST00000379611.5	-	7	1502	c.1215C>G	c.(1213-1215)acC>acG	p.T405T	CCDC112_ENST00000506442.1_Silent_p.T322T|CCDC112_ENST00000395557.4_Silent_p.T322T|CCDC112_ENST00000512261.1_Silent_p.T322T	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	322										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTTCTGCTGGGTATAACTTT	0.358000													24	94					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813921	123813921	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:123813921C>T	ENST00000321252.2	-	1	659	c.625G>A	c.(625-627)Ggc>Agc	p.G209S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGTGAGCCCAGTAACACC	0.547000													19	76					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105732770	105732770	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:105732770A>G	ENST00000393127.2	+	5	954	c.508A>G	c.(508-510)Att>Gtt	p.I170V	GRIA4_ENST00000428631.2_Missense_Mutation_p.I170V|GRIA4_ENST00000393125.2_Missense_Mutation_p.I170V|GRIA4_ENST00000525187.1_Missense_Mutation_p.I170V|GRIA4_ENST00000530497.1_Missense_Mutation_p.I170V|GRIA4_ENST00000282499.5_Missense_Mutation_p.I170V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	170					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACTCCAAGCTATTATGGAAAA	0.368000													18	63					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149																											GGTACGTGCCCCGCGCTGTGC	0.711000													3	47					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29725152	29725152	+	Splice_Site	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:29725152C>G	ENST00000256062.5	-	9	1568		c.e9-1		TMTC1_ENST00000319685.8_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000552618.1_Intron	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AACTCCAGACCTAAAATGAAT	0.358000													13	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596793	179596793	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:179596793C>T	ENST00000589042.1	-	57	17127	c.16903_splice	c.e57+1	p.E5635_splice	TTN_ENST00000591111.1_Splice_Site_p.E5318_splice|TTN_ENST00000342992.6_Splice_Site_p.E4391_splice|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5318	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACACAAACCTTTGACTATT	0.453000													57	118					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596967	48596967	+	Missense_Mutation	SNP	G	G	T	rs139314602	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:48596967G>T	ENST00000310248.2	-	1	203	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GCCATGGTGAGGCTGTAGAGG	0.532000													5	53					0.000602214	0.000642646	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67170797	67170797	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:67170797T>A	ENST00000269081.4	-	25	3908	c.2999A>T	c.(2998-3000)tAc>tTc	p.Y1000F	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1000					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAATATGAAGTAGTAAATTAA	0.368000													51	46					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72610148	72610148	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:72610148G>A	ENST00000392619.1	-	3	529	c.494C>T	c.(493-495)aCa>aTa	p.T165I	CD300E_ENST00000426295.2_Missense_Mutation_p.T179I|CD300E_ENST00000328630.3_Missense_Mutation_p.T138I	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	138						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTGGATGTGTGGTCCTCCT	0.562000													19	13					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158487537	158487537	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:158487537G>T	ENST00000355585.4	+	12	1662	c.1587G>T	c.(1585-1587)cgG>cgT	p.R529R	SYNJ2_ENST00000367122.2_Silent_p.R529R|SYNJ2_ENST00000367121.3_Silent_p.R529R|SYNJ2_ENST00000449859.2_Silent_p.R457R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	529							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATTTCAAGCGGATCCGGATTG	0.537000													46	28					2.37825e-27	3.82038e-27	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67205172	67205172	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:67205172T>C	ENST00000371037.4	+	22	2263	c.2186T>C	c.(2185-2187)aTc>aCc	p.I729T	SGIP1_ENST00000371036.3_Missense_Mutation_p.I531T|SGIP1_ENST00000371039.1_Missense_Mutation_p.I532T|SGIP1_ENST00000237247.6_Missense_Mutation_p.I760T|SGIP1_ENST00000371035.3_Missense_Mutation_p.I519T|SGIP1_ENST00000435165.2_Missense_Mutation_p.I234T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	729					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTGGTCCCCATCGACGGAGGA	0.532000													12	33					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020392	90020392	+	Silent	SNP	G	G	C	rs147663877		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:90020392G>C	ENST00000268122.4	-	8	1226	c.1158C>G	c.(1156-1158)acC>acG	p.T386T	RHCG_ENST00000544600.1_Silent_p.T386T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	386					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTGTTCTTGCGGTCCAGTCCC	0.567000													32	55					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834434	101834434	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:101834434G>T	ENST00000506729.1	-	1	286	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P39T|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P39T			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	39						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAGGACTTCGGGGTTCCCTTG	0.597000													88	128					1.3466e-33	2.21621e-33	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37431000	37431000	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:37431000C>G	ENST00000374660.1	+	7	1106	c.1007C>G	c.(1006-1008)cCt>cGt	p.P336R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P336R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P336R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P336R(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGACACACCTAGGGAAATT	0.428000													14	72					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6263054	6263054	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:6263054T>A	ENST00000533426.1	+	5	769	c.618T>A	c.(616-618)ggT>ggA	p.G206G	CNGA4_ENST00000379936.2_Intron			Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	564					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGTGGGGTAGGGGGGAAC	0.532000													36	32					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30991502	30991502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:30991502G>T	ENST00000262519.8	+	14	5081	c.4395G>T	c.(4393-4395)tgG>tgT	p.W1465C		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1465	Interaction with ASH2L, RBBP5 and WDR5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACACTCACTGGGTCCATCACA	0.632000													10	11					2.17888e-05	2.43711e-05	1	1	0
POU6F2	11281	broad.mit.edu	37	7	39379567	39379567	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:39379567C>A	ENST00000518318.2	+	5	880	c.838C>A	c.(838-840)Cca>Aca	p.P280T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P272T|POU6F2_ENST00000403058.1_Missense_Mutation_p.P280T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	280	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGTCAGTCTCCAGGACATGG	0.612000													18	45					7.45023e-12	9.99986e-12	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103433	53103433	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:53103433G>T	ENST00000408890.4	+	1	85	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	23										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AACCCCTGCTGCAAGGCCCCG	0.711000													9	16					0.0477658	0.0483258	1	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683432	140683432	+	Translation_Start_Site	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140683432T>C	ENST00000239451.4	-	1	180	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	1					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCGGACTTCATGTTCGCTCAC	0.632000													14	18					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109475613	109475613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr13:109475613C>A	ENST00000356711.2	+	9	1144	c.1018C>A	c.(1018-1020)Ctg>Atg	p.L340M	MYO16_ENST00000357550.2_Missense_Mutation_p.L340M|MYO16_ENST00000251041.5_Missense_Mutation_p.L340M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	340					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTTCCCGTACTGTCGAGTAA	0.433000													47	36					1.00953e-15	1.45875e-15	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21926000	21926000	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:21926000T>C	ENST00000542643.2	-	23	2143	c.1841A>G	c.(1840-1842)gAg>gGg	p.E614G	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E673G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.E588G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E652G|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E619G	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	588					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCCTGTGTCCTCTCCGTCCAC	0.657000													10	61					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391044	391044	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:391044C>T	ENST00000256509.2	+	10	1493	c.851C>T	c.(850-852)cCa>cTa	p.P284L	CHL1_ENST00000397491.2_Missense_Mutation_p.P268L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	268	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ttttGCAGGCCAACTCCACAG	0.343000													22	49					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782795	55782795	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:55782795C>G	ENST00000373965.2	-	20	2798	c.2404G>C	c.(2404-2406)Gca>Cca	p.A802P	PCDH15_ENST00000437009.1_Missense_Mutation_p.A724P|PCDH15_ENST00000414778.1_Missense_Mutation_p.A800P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A773P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.A795P|PCDH15_ENST00000409834.1_Missense_Mutation_p.A406P|PCDH15_ENST00000395438.1_Missense_Mutation_p.A795P|PCDH15_ENST00000395430.1_Missense_Mutation_p.A795P|PCDH15_ENST00000361849.3_Missense_Mutation_p.A795P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A802P|PCDH15_ENST00000395432.2_Missense_Mutation_p.A758P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A795P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	795	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGTGTACTGCTCCATCTGTT	0.428000										HNSCC(58;0.16)			24	59					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765733	50765733	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:50765733G>T	ENST00000404971.1	-	11	3260	c.1921C>A	c.(1921-1923)Cct>Act	p.P641T	NRXN1_ENST00000402717.3_Missense_Mutation_p.P593T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406316.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P601T|NRXN1_ENST00000405472.3_Missense_Mutation_p.P593T|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	601	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCTCACCAGGAGCAGTGTAG	0.483000													13	64					5.50884e-06	6.24266e-06	1	1	0
C2orf57	165100	broad.mit.edu	37	2	232457722	232457722	+	Silent	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:232457722A>T	ENST00000313965.2	+	1	148	c.60A>T	c.(58-60)ccA>ccT	p.P20P		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	20										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGGACAGCCCAGCAGGAGAGC	0.617000													21	54					0	0	1	0	0
HCST	10870	broad.mit.edu	37	19	36394674	36394674	+	Splice_Site	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:36394674G>A	ENST00000246551.4	+	3	224	c.109_splice	c.e3-1	p.G37_splice	HCST_ENST00000437550.2_Splice_Site_p.G37_splice			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	37					regulation of immune response	integral to membrane|plasma membrane				lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCTCCAGGCTCTTGTTCC	0.667000													8	28					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404183	197404183	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:197404183A>G	ENST00000367397.1	+	5	2191	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	CRB1_ENST00000367400.3_Missense_Mutation_p.S1064G|CRB1_ENST00000367399.2_Missense_Mutation_p.S952G|CRB1_ENST00000535699.1_Missense_Mutation_p.S1040G|CRB1_ENST00000544212.1_Missense_Mutation_p.S545G|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1064	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTTGTGACCAGCACAATTGC	0.468000													30	97					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570230	248570230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:248570230C>A	ENST00000366474.1	+	1	935	c.935C>A	c.(934-936)cCa>cAa	p.P312Q		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACATGCTGCCACATTCTTAC	0.517000													64	73					5.5144e-22	8.58428e-22	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73850036	73850036	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:73850036T>C	ENST00000523207.1	+	3	3034	c.2446T>C	c.(2446-2448)Tta>Cta	p.L816L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	816					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGAAGACTTCTTAGAGCTCCC	0.517000													36	56					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30309575	30309575	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:30309575T>C	ENST00000307677.4	-	2	857	c.447A>G	c.(445-447)gcA>gcG	p.A149A	BCL2L1_ENST00000420653.1_Silent_p.A149A|BCL2L1_ENST00000376062.2_Silent_p.A149A|BCL2L1_ENST00000376055.4_Intron	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	149					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CCACGCACAGTGCCCCGCCGA	0.537000													63	160					0	0	1	0	0
PMS2CL	441194	broad.mit.edu	37	7	6785797	6785797	+	RNA	SNP	C	C	T	rs141880038	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:6785797C>T	ENST00000486256.1	+	0	1941					NR_002217.1																						AGAATGGCTTCGATTTTGTTA	0.398000													4	19					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332726	140332726	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:140332726G>T	ENST00000371506.2	-	2	195	c.12C>A	c.(10-12)tcC>tcA	p.S4S	ENTPD8_ENST00000344119.2_Silent_p.S4S|ENTPD8_ENST00000472938.1_Silent_p.S4S	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	4						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTCCTTCCGGGACAGCCCCA	0.687000													3	4					0.115264	0.115839	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24884783	24884783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:24884783G>T	ENST00000382554.3	+	9	4146	c.3828G>T	c.(3826-3828)caG>caT	p.Q1276H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1276					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTCCTCCAGGGCCTGCTGG	0.632000													37	31					1.42033e-22	2.22249e-22	1	1	0
SERF2	10169	broad.mit.edu	37	15	44085915	44085915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:44085915G>T	ENST00000381359.1	+	5	1053	c.124G>T	c.(124-126)Gag>Tag	p.E42*	SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000403425.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000249786.4_Nonsense_Mutation_p.E42*|SERF2_ENST00000339624.5_Silent_p.R49R|SERF2_ENST00000594896.1_Intron|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Silent_p.R86R|SERF2_ENST00000402131.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000409614.1_Nonsense_Mutation_p.E28*	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	42						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGGACTCGGAGATCATGCA	0.537000													30	61					1.2476e-16	1.829e-16	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37353530	37353530	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:37353530C>A	ENST00000217420.1	+	1	426	c.163C>A	c.(163-165)Cgc>Agc	p.R55S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	55					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTTGAGCACCGCCAGGGCCT	0.647000													12	22					1.08611e-07	1.28378e-07	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39679175	39679175	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:39679175A>G	ENST00000265708.4	-	5	377	c.274T>C	c.(274-276)Tgc>Cgc	p.C92R	ADAM2_ENST00000347580.4_Missense_Mutation_p.C92R|ADAM2_ENST00000379853.2_Missense_Mutation_p.C92R|ADAM2_ENST00000521880.1_Missense_Mutation_p.C92R|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	92					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGGTAGTGGCAGAAATTCTGA	0.303000													9	28					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580183	140580183	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140580183A>G	ENST00000354757.3	+	1	836	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		279	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATATGCTATACCTTTTCC	0.378000													38	165					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61022232	61022232	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:61022232C>G	ENST00000373867.3	-	11	1414	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	FAM13C_ENST00000442566.3_Missense_Mutation_p.E421Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Missense_Mutation_p.E421Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.E317Q|FAM13C_ENST00000422313.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000373868.2_Missense_Mutation_p.E400Q	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	400										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTCTTCTCTCCTTCAGGCAT	0.532000													12	45					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44859700	44859700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:44859700T>A	ENST00000261866.7	-	36	6692	c.6676A>T	c.(6676-6678)Agc>Tgc	p.S2226C	SPG11_ENST00000427534.2_Missense_Mutation_p.S2226C|SPG11_ENST00000535302.2_Missense_Mutation_p.S2113C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2226					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGGCACATGCTGAAGCACAGG	0.552000													22	33					0	0	1	0	0
CEBPG	1054	broad.mit.edu	37	19	33870449	33870449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:33870449G>T	ENST00000284000.3	+	2	966	c.304G>T	c.(304-306)Gaa>Taa	p.E102*		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	102	Leucine-zipper.				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					AGAAGAGAATGAACGGTTGGA	0.433000													18	27					1.99824e-07	2.32999e-07	1	1	0
TINAG	27283	broad.mit.edu	37	6	54254606	54254606	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:54254606G>T	ENST00000259782.4	+	11	1410	c.1314G>T	c.(1312-1314)tgG>tgT	p.W438C		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	438					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CCAATTCCTGGGGAAAGTCAT	0.393000													69	55					1.15074e-40	1.92002e-40	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140737010	140737010	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140737010C>A	ENST00000571252.1	+	1	2243	c.2243C>A	c.(2242-2244)gCt>gAt	p.A748D	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGTTCGGGCTTTCCTGCAG	0.612000													40	46					1.66425e-11	2.21411e-11	1	1	0
LEPREL2	10536	broad.mit.edu	37	12	6938928	6938928	+	RNA	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:6938928G>A	ENST00000251761.8	+	0	531				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GGCACCCAGAGTGTGTGTCTG	0.647000											OREG0021637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	31					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022774	12022774	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:12022774G>T	ENST00000396373.4	+	5	1154	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	294						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGCTCTCCGAGGACGGGCT	0.587000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								68	67					1.1794e-34	1.95167e-34	1	1	0
C8A	731	broad.mit.edu	37	1	57372451	57372451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:57372451G>T	ENST00000361249.3	+	8	1304	c.1208G>T	c.(1207-1209)gGa>gTa	p.G403V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	403	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAAAAATTTGGAGGTGGCAAA	0.403000													23	111					9.95505e-16	1.44193e-15	1	1	0
RTDR1	27156	broad.mit.edu	37	22	23401822	23401822	+	Missense_Mutation	SNP	G	G	T	rs145071477		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:23401822G>T	ENST00000216036.4	-	7	1061	c.865C>A	c.(865-867)Cgc>Agc	p.R289S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	289							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCATTCAGGCGCGCTATGGTC	0.657000													25	79					3.01185e-09	3.75084e-09	1	1	0
LRGUK	136332	broad.mit.edu	37	7	133932320	133932320	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:133932320A>G	ENST00000285928.2	+	17	2065	c.1996A>G	c.(1996-1998)Ata>Gta	p.I666V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	666							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAGAGATTCTATACACAGACA	0.378000													14	54					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078207	157078207	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:157078207C>G	ENST00000265007.6	-	1	1221	c.880G>C	c.(880-882)Gtg>Ctg	p.V294L	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.V294L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	294					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTAGTAGGCACTGGTGTCAGG	0.547000													19	76					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25395985	25395985	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:25395985G>C	ENST00000315368.3	+	12	1072	c.930G>C	c.(928-930)tgG>tgC	p.W310C	ANAPC4_ENST00000510092.1_Missense_Mutation_p.W310C	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGCTATTATGGGGGAAAGCAA	0.303000													11	27					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115405668	115405668	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:115405668T>C	ENST00000369358.4	-	11	1270	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	NRAP_ENST00000369360.3_Silent_p.K342K|NRAP_ENST00000359988.3_Silent_p.K342K|NRAP_ENST00000360478.3_Silent_p.K342K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	342						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGCAGCGCCTTTCATCTTAT	0.458000													13	54					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50856618	50856618	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:50856618C>T	ENST00000395562.2	+	10	1570	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	CHAT_ENST00000337653.2_Silent_p.V449V|CHAT_ENST00000395559.2_Silent_p.V331V|CHAT_ENST00000455728.2_Silent_p.V331V|CHAT_ENST00000339797.1_Silent_p.V331V|CHAT_ENST00000351556.3_Silent_p.V331V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	449					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ATGGCATCGTCCTGGTGCAGT	0.602000													5	8					0	0	1	0	0
C6orf106	64771	broad.mit.edu	37	6	34614531	34614531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:34614531C>A	ENST00000374023.3	-	3	601	c.358G>T	c.(358-360)Gga>Tga	p.G120*	C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Nonsense_Mutation_p.G46*	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	120										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AATTGGTCTCCCCCGACATAT	0.517000													83	105					2.00703e-41	3.35802e-41	1	1	0
USP17L2	377630	broad.mit.edu	37	8	11994828	11994828	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:11994828T>A	ENST00000333796.3	-	1	1758	c.1442A>T	c.(1441-1443)gAa>gTa	p.E481V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	481					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCTTTGCTGTTCAGGATGATG	0.512000													7	94					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57215643	57215643	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:57215643C>A	ENST00000205214.6	-	11	2454	c.2274G>T	c.(2272-2274)agG>agT	p.R758S	AASDH_ENST00000513376.1_Missense_Mutation_p.R658S|AASDH_ENST00000602986.1_Missense_Mutation_p.R605S|AASDH_ENST00000434343.2_Missense_Mutation_p.R273S|AASDH_ENST00000451613.1_Missense_Mutation_p.R758S|AASDH_ENST00000502617.1_Missense_Mutation_p.R758S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	758					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGACCTCCACCTCACATGTA	0.438000													38	75					6.90743e-12	9.31269e-12	1	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338633	13338633	+	RNA	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:13338633G>A	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						TATTGGTAGGGGTACCAAAGT	0.478000													35	49					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35616947	35616947	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:35616947C>A	ENST00000287272.2	+	13	2086	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	UNC5D_ENST00000420357.1_Missense_Mutation_p.P691H|UNC5D_ENST00000404895.2_Missense_Mutation_p.P758H|UNC5D_ENST00000416672.1_Missense_Mutation_p.P763H|UNC5D_ENST00000449677.1_Missense_Mutation_p.P334H|UNC5D_ENST00000453357.2_Missense_Mutation_p.P753H			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	758					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTGATATTCCCCCATTCCTC	0.448000													26	170					2.79863e-10	3.62741e-10	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140588594	140588594	+	Missense_Mutation	SNP	T	T	G	rs113934136		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140588594T>G	ENST00000239450.2	+	1	304	c.115T>G	c.(115-117)Ttg>Gtg	p.L39V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		39	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGGAGGAATTGCAGAGCGG	0.517000													12	89					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355345	31355345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:31355345G>T	ENST00000542188.1	-	7	1305	c.992C>A	c.(991-993)gCg>gAg	p.A331E	TRPM1_ENST00000397795.2_Missense_Mutation_p.A292E|TRPM1_ENST00000256552.6_Missense_Mutation_p.A314E	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	292					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTACTTGTGCGCAAAGGACAG	0.547000													15	46					3.27435e-08	3.95542e-08	1	1	0
TNR	7143	broad.mit.edu	37	1	175360538	175360538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:175360538C>A	ENST00000367674.1	-	7	2101	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	TNR_ENST00000263525.2_Missense_Mutation_p.D465Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	465	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GACGTAACATCGCTGGGGACC	0.527000													7	26					8.12818e-05	8.8778e-05	1	1	0
PKD2	5311	broad.mit.edu	37	4	88959523	88959523	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:88959523C>T	ENST00000237596.2	+	4	1030	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	322			R -> Q (in ADPKD2).|R -> W (in ADPKD2).			basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCCACGAATACGGCAACTCCG	0.478000													33	49					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2415130	2415130	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:2415130G>T	ENST00000360876.4	+	14	2052	c.1996G>T	c.(1996-1998)Gtc>Ttc	p.V666F	EIF3B_ENST00000397011.2_Missense_Mutation_p.V666F	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	666					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TGGGCGCTACGTCGTCACCTC	0.567000													27	70					4.59853e-10	5.89705e-10	1	1	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334658	122334658	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:122334658T>G	ENST00000398250.1	+	6	813	c.461T>G	c.(460-462)cTt>cGt	p.L154R	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L144R|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.L154R|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L91R	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	154					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTTTCGGGCCTTGGCTTCACG	0.597000													6	63					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529268	113529268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:113529268C>G	ENST00000297405.5	-	28	4995	c.4751G>C	c.(4750-4752)tGt>tCt	p.C1584S	CSMD3_ENST00000455883.2_Missense_Mutation_p.C1480S|CSMD3_ENST00000352409.3_Missense_Mutation_p.C1584S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1544S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1584	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATACCTATACAGACTGGTGG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	62					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590105	158590105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:158590105G>A	ENST00000368148.3	-	44	6452	c.6272C>T	c.(6271-6273)tCc>tTc	p.S2091F	SPTA1_ENST00000368147.3_Missense_Mutation_p.S2088F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2091					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTAGCCAGGGAGGCCAAGAA	0.493000													44	56					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64639752	64639752	+	RNA	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:64639752A>T	ENST00000587624.1	+	0	635																											TTGATTTCCTAGTTGACATGT	0.443000													3	28					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133768	177133768	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:177133768C>A	ENST00000367654.2	-	1	58	c.45G>T	c.(43-45)ggG>ggT	p.G15G	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.G15G|ASTN1_ENST00000367657.3_Silent_p.G15G|ASTN1_ENST00000424564.2_Silent_p.G15G			O14525	ASTN1_HUMAN	astrotactin 1	15					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGCCGCCGGCCCCCAGCAGC	0.697000													10	10					1.76689e-08	2.15162e-08	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163241264	163241264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:163241264C>A	ENST00000332142.5	-	13	2995	c.2896G>T	c.(2896-2898)Gat>Tat	p.D966Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	966					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCAAAATCGAGCCCAGAT	0.438000													68	102					1.02487e-32	1.67303e-32	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71234983	71234983	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:71234983A>T	ENST00000418814.2	+	15	2810	c.2196A>T	c.(2194-2196)ttA>ttT	p.L732F	FAM135A_ENST00000361499.3_Missense_Mutation_p.L536F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L732F|FAM135A_ENST00000370479.3_Missense_Mutation_p.L519F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000457062.2_Missense_Mutation_p.L519F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	732										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAACTAAATTACGAAGTAATC	0.318000													21	66					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882805	43882805	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:43882805T>C	ENST00000443950.2	-	3	1014	c.528A>G	c.(526-528)atA>atG	p.I176M	HNRNPF_ENST00000337970.3_Missense_Mutation_p.I176M|HNRNPF_ENST00000544000.1_Missense_Mutation_p.I176M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.I176M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.I176M	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	176	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.I176M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACCTGTGCCCTATCCTCTCCT	0.552000													26	73					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924844	188924844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:188924844C>G	ENST00000326866.4	+	4	1291	c.883C>G	c.(883-885)Cac>Gac	p.H295D	ZFP42_ENST00000509524.1_Missense_Mutation_p.H295D	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	295					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCTGAAAGCCCACATCCTAAC	0.463000													17	24					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897927	36897927	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:36897927C>G	ENST00000301807.6	-	12	3401	c.1504G>C	c.(1504-1506)Gtt>Ctt	p.V502L	TRANK1_ENST00000429976.2_Missense_Mutation_p.V1052L|TRANK1_ENST00000428977.2_Missense_Mutation_p.V502L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1052					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.V502I(2)|p.V1052I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCCAGTAAACGTGGAATTTC	0.532000													8	32					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370587	1370587	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:1370587G>T	ENST00000402301.1	+	5	518	c.482G>T	c.(481-483)cGg>cTg	p.R161L	UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000403747.2_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000406620.1_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	39					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTGGCAGGACGGGAGTGGAGG	0.662000													4	21					1.02788e-11	1.37051e-11	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55582052	55582052	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:55582052G>A	ENST00000361849.3	-	34	5834	c.5440C>T	c.(5440-5442)Cct>Tct	p.P1814S	PCDH15_ENST00000437009.1_Missense_Mutation_p.P1743S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1789S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1809S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1772S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1812S|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1812					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaaatggaggtagaagaggt	0.507000										HNSCC(58;0.16)			3	33					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45269868	45269868	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:45269868T>A	ENST00000372201.4	+	11	1531	c.1292T>A	c.(1291-1293)gTg>gAg	p.V431E	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	431						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCCACAGTAGTGGAGTCAGCC	0.562000													27	58					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863450	128863450	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:128863450C>A	ENST00000274487.4	+	5	1223	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	360	Peptidase M12B.		L -> I (in a breast cancer sample; somatic mutation).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L360I(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTATTTAACCTTTTCCAACA	0.313000													27	42					3.73808e-20	5.74504e-20	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134075509	134075509	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:134075509C>T	ENST00000264360.4	+	2	3505	c.2679C>T	c.(2677-2679)cgC>cgT	p.R893R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	893					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R893R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACAGACCTCGCCGAGTTAACA	0.358000													7	21					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642728	137642728	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:137642728G>T	ENST00000371817.3	+	13	2076	c.1662_splice	c.e13+1	p.R554_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	554	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCAGGCCAGGGTGAGTACTG	0.642000													4	14					0.00024832	0.000266878	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187626732	187626732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:187626732C>T	ENST00000304698.5	+	8	1866	c.1663C>T	c.(1663-1665)Cat>Tat	p.H555Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	555						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGAACAATTACATACTGCTAA	0.443000													19	48					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2523057	2523057	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:2523057A>T	ENST00000288709.6	-	23	2392	c.2152T>A	c.(2152-2154)Tac>Aac	p.Y718N	MMEL1_ENST00000502556.1_Missense_Mutation_p.Y570N|MMEL1_ENST00000378412.3_Missense_Mutation_p.Y727N	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	727					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TCGGGCCGGTAGGACCCGCAC	0.637000													18	57					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30133047	30133047	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:30133047T>C	ENST00000331968.5	-	4	783	c.554A>G	c.(553-555)cAt>cGt	p.H185R	PRKD1_ENST00000415220.2_Missense_Mutation_p.H185R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	185					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACATCTCTTATGGTAATTCAG	0.378000													46	53					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41751562	41751562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:41751562G>T	ENST00000352645.4	+	18	2381	c.2124G>T	c.(2122-2124)gaG>gaT	p.E708D	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E708D	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	724					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGGTGGTGGAGCCTGACAAGG	0.622000													16	21					3.41278e-10	4.41396e-10	1	1	0
FCGR2B	2213	broad.mit.edu	37	1	161642892	161642892	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:161642892A>C	ENST00000367962.4	+	4	646	c.519A>C	c.(517-519)aaA>aaC	p.K173N	FCGR2B_ENST00000403078.3_Missense_Mutation_p.K173N|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K166N|FCGR2B_ENST00000428605.2_Missense_Mutation_p.K173N|FCGR2B_ENST00000236937.9_Missense_Mutation_p.K173N|FCGR2B_ENST00000367961.4_Missense_Mutation_p.K166N|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000358671.5_Missense_Mutation_p.K173N			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	173	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATCCAAGAAATTTTCCCGTT	0.498000			T	?	ALL								10	70					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301839	11301839	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:11301839G>T	ENST00000284486.4	-	2	620	c.82C>A	c.(82-84)Cgg>Agg	p.R28R	FAM167A_ENST00000534308.1_Silent_p.R28R|FAM167A_ENST00000528897.1_Silent_p.R28R	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	28										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TTCAGGCTCCGGAGGTGGTCA	0.647000													19	111					4.96729e-08	5.91764e-08	1	1	0
ASPHD2	57168	broad.mit.edu	37	22	26830398	26830398	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:26830398G>T	ENST00000215906.5	+	2	1255	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	273					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GTGCATCTCTGTGCTGAGCCC	0.552000													53	56					2.0833e-19	3.16955e-19	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130831129	130831129	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:130831129G>T	ENST00000245255.3	+	5	803	c.531_splice	c.e5+1	p.K177_splice		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	177					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)		TACAGCAAAAGGTTATTTGGG	0.413000													23	31					1.10513e-12	1.51018e-12	1	1	0
FABP12	646486	broad.mit.edu	37	8	82441685	82441685	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:82441685G>T	ENST00000360464.4	-	2	296	c.234C>A	c.(232-234)ggC>ggA	p.G78G	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	78							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						TTGTTTTGTGGCCACCTGGCG	0.388000													39	91					5.04308e-16	7.32216e-16	1	1	0
TNFSF10	8743	broad.mit.edu	37	3	172232740	172232740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:172232740C>A	ENST00000241261.2	-	2	303	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	TNFSF10_ENST00000420541.2_Missense_Mutation_p.D61Y	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	61					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.D61N(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TAACTGTCATCTTCTTTTAAG	0.418000													53	81					5.39261e-20	8.24592e-20	1	1	0
CIT	11113	broad.mit.edu	37	12	120166315	120166315	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:120166315G>A	ENST00000392521.2	-	28	3638	c.3583C>T	c.(3583-3585)Ctg>Ttg	p.L1195L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L1153L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1153	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCTCTTCCAGAAGCCTCTGT	0.443000													99	201					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193502	28193502	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:28193502C>G	ENST00000302326.4	-	1	3984	c.3030G>C	c.(3028-3030)tgG>tgC	p.W1010C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1010							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCCCTTCCCCCAGGATGGCG	0.692000			T	ETV6	"""AML, meningioma"""								20	28					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675783	102675783	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:102675783C>T	ENST00000335263.5	+	3	1356	c.1276C>T	c.(1276-1278)Ccg>Tcg	p.P426S	WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Missense_Mutation_p.P365S|WDR20_ENST00000454394.2_Missense_Mutation_p.P457S|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.P365S|WDR20_ENST00000545563.1_Missense_Mutation_p.P253S|WDR20_ENST00000499851.2_Missense_Mutation_p.P169S|WDR20_ENST00000424963.2_Missense_Mutation_p.P302S|WDR20_ENST00000342702.3_Missense_Mutation_p.P426S	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	426										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GAACTCTGTGCCGCCTCCTCT	0.552000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	33					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181690944	181690944	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:181690944C>G	ENST00000526775.1	+	16	2172	c.2007C>G	c.(2005-2007)tcC>tcG	p.S669S	CACNA1E_ENST00000367570.1_Silent_p.S669S|CACNA1E_ENST00000367567.4_Silent_p.S276S|CACNA1E_ENST00000367573.2_Silent_p.S669S|CACNA1E_ENST00000358338.5_Silent_p.S620S|CACNA1E_ENST00000357570.5_Silent_p.S620S|CACNA1E_ENST00000360108.3_Silent_p.S669S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	669					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGATCCGCTCCCAGGGTGGGG	0.512000													22	107					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119434506	119434506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:119434506G>C	ENST00000273390.5	+	6	675	c.598G>C	c.(598-600)Gtt>Ctt	p.V200L	MAATS1_ENST00000463700.1_Missense_Mutation_p.V200L	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GGATGCTGACGTTCAAACAGA	0.463000													53	116					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106090834	106090834	+	RNA	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:106090834G>A	ENST00000390543.2	-	0	962																											GAGACAGGGAGAGGCTCTTCT	0.622000													4	78					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132037881	132037881	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:132037881A>C	ENST00000378746.4	-	13	1919	c.1701T>G	c.(1699-1701)caT>caG	p.H567Q	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.H570Q|KIF3A_ENST00000403231.1_Missense_Mutation_p.H594Q	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	567					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCCCTCTGATGTTCTTGTT	0.393000													8	40					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176522578	176522578	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:176522578C>A	ENST00000292408.4	+	13	1920	c.1675C>A	c.(1675-1677)Cgg>Agg	p.R559R	FGFR4_ENST00000393648.2_Silent_p.R491R|FGFR4_ENST00000502906.1_Silent_p.R559R|FGFR4_ENST00000393637.1_Silent_p.R519R|FGFR4_ENST00000292410.3_Silent_p.R519R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	559	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GGGAAACCTGCGGGAGTTCCT	0.701000										TSP Lung(9;0.080)			5	14					0.0215528	0.0219526	1	1	0
OR8B12	219858	broad.mit.edu	37	11	124413323	124413323	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:124413323G>T	ENST00000306842.2	-	1	252	c.228C>A	c.(226-228)atC>atA	p.I76I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTTGGGAGTGATGGTAGTGG	0.428000													30	60					2.65835e-16	3.87836e-16	1	1	0
MFAP3L	9848	broad.mit.edu	37	4	170912590	170912590	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:170912590G>C	ENST00000361618.3	-	3	1476	c.1169C>G	c.(1168-1170)gCc>gGc	p.A390G	MFAP3L_ENST00000393704.3_Missense_Mutation_p.A287G|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	390						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGGCTCTGTGGCTTCCAGGTA	0.478000													33	62					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343493	38343493	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:38343493G>T	ENST00000374618.3	+	5	619	c.441G>T	c.(439-441)atG>atT	p.M147I	ZNF33A_ENST00000307441.9_Missense_Mutation_p.M146I|ZNF33A_ENST00000458705.2_Missense_Mutation_p.M146I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.M153I	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	146						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CATGTGGAATGAGTTTCAACA	0.323000													17	58					3.52763e-06	4.02017e-06	1	1	0
TMEM159	57146	broad.mit.edu	37	16	21181851	21181851	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:21181851G>C	ENST00000233047.4	+	3	658	c.190G>C	c.(190-192)Gtt>Ctt	p.V64L	TMEM159_ENST00000572599.1_Missense_Mutation_p.V64L|TMEM159_ENST00000261388.3_Missense_Mutation_p.V64L|TMEM159_ENST00000451578.2_Missense_Mutation_p.V88L|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Missense_Mutation_p.V64L			Q96B96	TM159_HUMAN	transmembrane protein 159	64						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CATGTCGGCCGTTCCTGTTGG	0.537000													49	83					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1077668	1077668	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:1077668C>G	ENST00000441003.2	+	3	445	c.418C>G	c.(418-420)Cgc>Ggc	p.R140G	MUC2_ENST00000359061.5_Missense_Mutation_p.R140G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	140	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTCTACTCCCGCGCCGGCCT	0.667000													5	12					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132199366	132199366	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:132199366G>T	ENST00000261674.4	+	3	529		c.e3-1		SFSWAP_ENST00000541286.1_Splice_Site	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)						mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTTTATTCAAGAGGAAGAATA	0.373000													15	24					2.31682e-05	2.58662e-05	1	1	0
CCT6A	908	broad.mit.edu	37	7	56126391	56126391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:56126391G>T	ENST00000275603.4	+	8	1183	c.964G>T	c.(964-966)Gag>Tag	p.E322*	CCT6A_ENST00000335503.3_Nonsense_Mutation_p.E277*|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.E291*	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	322					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAAATATGGAGAGGTATCC	0.328000													11	39					4.3838e-07	5.09195e-07	1	1	0
RAB2A	5862	broad.mit.edu	37	8	61504476	61504476	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:61504476A>G	ENST00000262646.7	+	6	773	c.422A>G	c.(421-423)cAt>cGt	p.H141R	RAB2A_ENST00000531289.1_Missense_Mutation_p.H117R|RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	141					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GCACGAGAACATGGACTCATC	0.348000													28	74					0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23420981	23420981	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:23420981A>G	ENST00000347397.1	+	2	323	c.77A>G	c.(76-78)cAa>cGa	p.Q26R	CSTL1_ENST00000246020.2_Missense_Mutation_p.Q26R|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	26						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GGTCACTTCCAAAGGTGGGAG	0.507000													20	55					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857205	140857205	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140857205C>A	ENST00000308177.3	+	1	1626	c.1522C>A	c.(1522-1524)Cgc>Agc	p.R508S	PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGTGGGTCGCTATTTCAC	0.488000													11	70					3.86212e-05	4.28022e-05	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99932018	99932018	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:99932018C>G	ENST00000524871.1	+	10	1345	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G	CNTN5_ENST00000528682.1_Missense_Mutation_p.A352G|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352G|CNTN5_ENST00000527185.1_Missense_Mutation_p.A352G|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	352	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A352V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCTCAGGCGGTGCTGGAA	0.433000													8	113					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719896	95719896	+	RNA	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:95719896C>T	ENST00000480546.1	-	0	1401					NR_002319.2																						CTGGAGCCTGCTCGCTGAGAG	0.502000													10	49					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170023	113170023	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:113170023T>C	ENST00000401783.2	-	38	8193	c.7857A>G	c.(7855-7857)atA>atG	p.I2619M	SVEP1_ENST00000374469.1_Missense_Mutation_p.I2596M|SVEP1_ENST00000297826.5_Missense_Mutation_p.I545M	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2619					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCCAAAATCTATATGAGGAG	0.463000													77	60					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466764	51466764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:51466764C>A	ENST00000376851.3	-	4	678	c.239G>T	c.(238-240)aGg>aTg	p.R80M	KLK6_ENST00000594641.1_Missense_Mutation_p.R80M|KLK6_ENST00000391808.1_De_novo_Start_InFrame|KLK6_ENST00000424910.2_Missense_Mutation_p.G28W|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R80M	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	80	Peptidase S1.	Cleavage; by autolysis.			amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGAACTCTCCCTTTGCCGAAG	0.582000													4	57					1.76689e-08	2.15162e-08	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161520839	161520839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:161520839C>A	ENST00000356592.3	+	2	573	c.113C>A	c.(112-114)aCt>aAt	p.T38N	GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.T38N|GABRG2_ENST00000361925.4_Missense_Mutation_p.T38N	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTTAGCTTCACTAGCCAGAAA	0.363000													11	50					4.68919e-08	5.61958e-08	1	1	0
GPR149	344758	broad.mit.edu	37	3	154055960	154055960	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:154055960A>T	ENST00000389740.2	-	4	1823	c.1724T>A	c.(1723-1725)gTa>gAa	p.V575E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	575						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTGCGCTTACCTCATAGGT	0.463000													67	124					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001203	27001203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:27001203G>T	ENST00000344420.5	+	6	1002	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Missense_Mutation_p.A231S	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		GGGCTGGGAGGCCTTCCATGC	0.617000													30	70					2.80507e-11	3.70736e-11	1	1	0
MZT2B	80097	broad.mit.edu	37	2	130948088	130948088	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:130948088G>A	ENST00000281871.6	+	3	721	c.366G>A	c.(364-366)gcG>gcA	p.A122A	MZT2B_ENST00000409255.1_Silent_p.A182A	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	122						centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						TGGCCCTGGCGGAACGCAGCA	0.657000													14	20					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515674	51515674	+	Missense_Mutation	SNP	G	G	T	rs143619747		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:51515674G>T	ENST00000328188.1	+	1	393	c.393G>T	c.(391-393)atG>atT	p.M131I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCACTATATGACTATCATGA	0.478000													54	113					5.08636e-23	7.97965e-23	1	1	0
PLBD2	196463	broad.mit.edu	37	12	113824843	113824843	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:113824843G>A	ENST00000280800.3	+	10	1419	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602000													13	83					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166961995	166961995	+	Missense_Mutation	SNP	G	G	C	rs113109340	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:166961995G>C	ENST00000367872.4	+	4	642	c.398G>C	c.(397-399)cGc>cCc	p.R133P	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.R102P	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	133					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TGTGAACAGCGCTTCCTCCCT	0.368000													39	61					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49854623	49854623	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:49854623C>T	ENST00000377214.4	-	6	899		c.e6-1		TEAD2_ENST00000311227.2_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000593945.1_Splice_Site|TEAD2_ENST00000601519.1_Splice_Site|TEAD2_ENST00000598810.1_Splice_Site			Q15562	TEAD2_HUMAN	TEA domain family member 2						hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGGCTTCACACTGAGGGAAAA	0.527000													4	16					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44750496	44750496	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:44750496A>T	ENST00000372285.3	+	2	161	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	CD40_ENST00000372276.3_Missense_Mutation_p.Q30L|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	30					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	AGAGAAAAACAGTACCTAATA	0.483000									Immune Deficiency with Hyper-IgM				30	62					0	0	1	0	0
C9orf170	401535	broad.mit.edu	37	9	89763778	89763778	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:89763778G>A	ENST00000375941.2	+	1	220	c.133G>A	c.(133-135)Gcc>Acc	p.A45T		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	45										large_intestine(3)|lung(2)|prostate(1)	6						GGGAGGCCTGGCCTCCTGCTC	0.602000													14	21					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067503	46067503	+	Silent	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:46067503A>C	ENST00000295452.4	-	4	587	c.420T>G	c.(418-420)gtT>gtG	p.V140V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	140					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAATTTTTCCAACCATATTAC	0.343000													7	51					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885901	88885901	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:88885901C>T	ENST00000319675.3	-	1	395	c.299G>A	c.(298-300)gGc>gAc	p.G100D		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	100										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGATGATGCCGTACTTGGA	0.547000													39	92					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1278086	1278086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:1278086C>A	ENST00000378888.5	-	2	507	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	DVL1_ENST00000378891.5_Missense_Mutation_p.G75C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	75	DIX.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCACGCGGCCGTTGAAGCAG	0.657000													18	20					6.49762e-13	8.93978e-13	1	1	0
TTC12	54970	broad.mit.edu	37	11	113234603	113234603	+	Silent	SNP	G	G	T	rs34940277	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:113234603G>T	ENST00000393020.1	+	20	2175	c.1770G>T	c.(1768-1770)acG>acT	p.T590T	TTC12_ENST00000529221.1_Silent_p.T590T|TTC12_ENST00000483239.2_Silent_p.T596T|TTC12_ENST00000314756.3_Silent_p.T590T			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	590							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CTATCTGCACGAATAGTTATC	0.388000													21	26					1.87028e-06	2.15171e-06	1	1	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21195337	21195337	+	RNA	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:21195337A>G	ENST00000591761.1	-	0	119				PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA																							CAAGGGAACAAGGTAACTATT	0.403000													14	32					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860811	30860811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:30860811C>A	ENST00000403066.1	-	9	766	c.483G>T	c.(481-483)ttG>ttT	p.L161F	SEC14L3_ENST00000215812.4_Missense_Mutation_p.L220F|SEC14L3_ENST00000540910.1_Missense_Mutation_p.L143F|SEC14L3_ENST00000415957.2_Missense_Mutation_p.L161F|SEC14L3_ENST00000402286.1_Missense_Mutation_p.L143F|SEC14L3_ENST00000401751.1_Missense_Mutation_p.L161F|SEC14L3_ENST00000539629.1_Missense_Mutation_p.L161F			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	220	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACTTACTTCCCAACACAATAA	0.468000													37	71					4.00102e-26	6.39316e-26	1	1	0
NFASC	23114	broad.mit.edu	37	1	204971852	204971852	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:204971852G>A	ENST00000367172.4	+	29	3914	c.3586G>A	c.(3586-3588)Gtc>Atc	p.V1196I	NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.V1117I|NFASC_ENST00000338586.6_Missense_Mutation_p.V1073I|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000339876.6_Missense_Mutation_p.V1089I|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.V1181I|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.V1089I			O94856	NFASC_HUMAN	neurofascin	1196	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCAGTACCGTCATCACCTT	0.557000													3	45					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979502	55979502	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:55979502G>T	ENST00000263923.4	-	7	1240	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	315	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCTTCTTGGTCATCAGCC	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	92					7.45023e-12	9.99986e-12	1	1	0
PER2	8864	broad.mit.edu	37	2	239164312	239164312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:239164312T>A	ENST00000254657.3	-	18	2585	c.2306A>T	c.(2305-2307)cAg>cTg	p.Q769L	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	769	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTCACTTGGCTGCCCCTTGGA	0.408000													49	157					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44856266	44856266	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:44856266C>T	ENST00000372262.3	-	3	951	c.550_splice	c.e3-1	p.G184_splice	CDH22_ENST00000537909.1_Splice_Site_p.G184_splice	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CACCGACGTGCCTGGGCCCGG	0.682000													8	13					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72432719	72432719	+	Splice_Site	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:72432719A>G	ENST00000340595.3	+	22	3260		c.e22-1		SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTATTTTCCAGGAGAAAGAT	0.353000													13	40					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091115	74091115	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:74091115T>A	ENST00000443185.2	-	4	3272	c.2955A>T	c.(2953-2955)ccA>ccT	p.P985P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGCAGGAGGTGGACCCTGAG	0.662000													7	18					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897386	38897386	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:38897386C>G	ENST00000359357.3	+	73	10821	c.10567C>G	c.(10567-10569)Cca>Gca	p.P3523A	DNAH8_ENST00000449981.2_Missense_Mutation_p.P3740A|DNAH8_ENST00000441566.1_Missense_Mutation_p.P3487A|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGCTGGATCCAGCCTTGGA	0.383000													19	83					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75186957	75186957	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:75186957C>A	ENST00000336926.6	-	16	1608		c.e16+1		HIP1_ENST00000434438.2_Splice_Site	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTCCCACTCACCTTCCGCTGG	0.592000			T	PDGFRB	CMML								45	137					4.44401e-20	6.81265e-20	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24447324	24447324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:24447324G>T	ENST00000398319.2	+	8	1079	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CABIN1_ENST00000263119.5_Nonsense_Mutation_p.E232*|CABIN1_ENST00000405822.2_Intron	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	232					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGTGCAGCTGAGACACAGGC	0.478000													20	44					6.33239e-15	9.04199e-15	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55111539	55111539	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:55111539G>C	ENST00000314721.2	+	1	913	c.863G>C	c.(862-864)aGa>aCa	p.R288T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TACTCGTTGAGACAATCAGAG	0.313000													12	45					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3111787	3111787	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:3111787C>A	ENST00000263650.7	-	20	2558		c.e20+1		OSBPL5_ENST00000478260.1_Splice_Site|OSBPL5_ENST00000389989.3_Splice_Site|OSBPL5_ENST00000348039.5_Splice_Site|OSBPL5_ENST00000542243.1_Splice_Site|OSBPL5_ENST00000525498.1_Splice_Site	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5						cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGGGGGCTCACCAGGGACAAA	0.662000													29	24					1.68575e-08	2.06531e-08	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187610	58187610	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:58187610G>C	ENST00000318203.5	+	3	794	c.97G>C	c.(97-99)Gtt>Ctt	p.V33L		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	33					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGACCTGCTGTTCAGAGAGA	0.383000													26	61					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78737817	78737817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:78737817C>A	ENST00000436010.2	-	7	2031	c.1034G>T	c.(1033-1035)tGg>tTg	p.W345L	ROBO1_ENST00000467549.1_Missense_Mutation_p.W348L|ROBO1_ENST00000495273.1_Missense_Mutation_p.W348L|ROBO1_ENST00000464233.1_Missense_Mutation_p.W384L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	384	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTCTCCTCCAGAAAATAGC	0.408000													4	7					0.00024832	0.000266878	1	1	0
MEIS3	56917	broad.mit.edu	37	19	47912374	47912374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:47912374C>G	ENST00000331559.5	-	8	1230	c.789G>C	c.(787-789)tgG>tgC	p.W263C	MEIS3_ENST00000561293.1_Missense_Mutation_p.W280C|MEIS3_ENST00000441740.2_Missense_Mutation_p.W263C|MEIS3_ENST00000559524.1_Missense_Mutation_p.W280C|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000558555.1_Missense_Mutation_p.W280C|MEIS3_ENST00000561096.1_Missense_Mutation_p.W368C	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	280						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)		GCTGGAACAACCAGGCTCGCA	0.592000													22	69					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111105	145111105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:145111105C>A	ENST00000426825.1	-	15	2122	c.2041G>T	c.(2041-2043)Gag>Tag	p.E681*	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	681							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TAGCCCAGCTCTGCCAGCAGG	0.642000													9	72					0.000673444	0.000716127	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107642164	107642164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:107642164G>A	ENST00000393561.1	-	1	308	c.124C>T	c.(124-126)Cga>Tga	p.R42*	LAMB1_ENST00000393560.1_Nonsense_Mutation_p.R18*|LAMB1_ENST00000222399.6_Nonsense_Mutation_p.R18*			P07942	LAMB1_HUMAN	laminin, beta 1	18	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCGCACTCGGGCTCTGCAC	0.642000													5	9					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959230	53959230	+	RNA	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:53959230G>T	ENST00000454407.1	+	0	1922							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATTCATACTGGAGAGAAACCA	0.408000													32	78					9.65021e-13	1.32471e-12	1	1	0
PRSS55	203074	broad.mit.edu	37	8	10390478	10390478	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:10390478G>C	ENST00000328655.3	+	4	701	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	PRSS55_ENST00000522210.1_Missense_Mutation_p.E221Q|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	221	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGACTGGGAGGAGTGTTCAAA	0.478000													21	55					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769170	247769170	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:247769170G>A	ENST00000320002.2	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATCACTTACGGTGGTTGTGT	0.473000													45	261					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110700	33110700	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr13:33110700T>C	ENST00000267068.3	-	2	629	c.465A>G	c.(463-465)caA>caG	p.Q155Q	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Silent_p.Q155Q|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	155										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTTTCTCTTTTTGTCCTCCTC	0.338000													52	60					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78452838	78452838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:78452838C>T	ENST00000397909.2	+	12	2752	c.2579C>T	c.(2578-2580)gCa>gTa	p.A860V	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.A860V|NAV3_ENST00000228327.6_Missense_Mutation_p.A860V|NAV3_ENST00000266692.7_Missense_Mutation_p.A860V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	860						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						CCAGACACAGCAACTTCCCGG	0.413000										HNSCC(70;0.22)			26	57					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33449548	33449548	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:33449548G>T	ENST00000256261.4	-	4	1136	c.619C>A	c.(619-621)Cag>Aag	p.Q207K	DUSP26_ENST00000523956.1_Missense_Mutation_p.Q207K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	207						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCCAGACCCTGCCGCAGCCTG	0.657000													6	32					2.0095e-06	2.30748e-06	1	1	0
ADAM32	203102	broad.mit.edu	37	8	39103643	39103643	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:39103643G>A	ENST00000379907.4	+	17	1987	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K	ADAM32_ENST00000519315.1_Silent_p.K514K|ADAM32_ENST00000437682.2_Silent_p.K521K	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	620					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GGATAATTAAGGCTTCAGCAC	0.373000													10	65					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44778629	44778629	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:44778629T>A	ENST00000391958.2	+	5	1943	c.1816T>A	c.(1816-1818)Tat>Aat	p.Y606N	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.Y588N	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTGGAACTCATATCTTCATGT	0.443000													47	100					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230969	13230969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:13230969G>T	ENST00000378694.1	+	9	1379	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	MCM10_ENST00000378714.3_Missense_Mutation_p.G435V|MCM10_ENST00000484800.2_Missense_Mutation_p.G436V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	436					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCTTCTCTGGAGGACGAATT	0.532000													24	63					1.64293e-13	2.29176e-13	1	1	0
GPR83	10888	broad.mit.edu	37	11	94113874	94113874	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:94113874T>A	ENST00000243673.2	-	4	884	c.713A>T	c.(712-714)tAc>tTc	p.Y238F	GPR83_ENST00000539203.2_Missense_Mutation_p.Y196F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	238						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAGTCCAGGTACTTCCAGAA	0.577000													11	46					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	601625	601625	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:601625G>A	ENST00000219611.2	+	9	2669	c.2306G>A	c.(2305-2307)aGt>aAt	p.S769N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CACGGCAGCAGTGAGGGTGTC	0.682000													31	43					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41307019	41307019	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:41307019A>G	ENST00000593726.1	+	1	1570	c.542A>G	c.(541-543)tAt>tGt	p.Y181C	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.Y181C|EGLN2_ENST00000406058.2_Missense_Mutation_p.Y181C			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	181					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCCCTGGACTATATCGTGCCC	0.672000													41	91					0	0	1	0	0
BANF1	8815	broad.mit.edu	37	11	65770766	65770766	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:65770766G>T	ENST00000312175.2	+	2	553	c.45G>T	c.(43-45)atG>atT	p.M15I	BANF1_ENST00000527348.1_Missense_Mutation_p.M15I|BANF1_ENST00000533166.1_Missense_Mutation_p.M15I|BANF1_ENST00000524628.1_Intron|BANF1_ENST00000445560.2_Missense_Mutation_p.M15I	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	15					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						CAGAGCCCATGGGGGAGAAGC	0.547000													12	27					2.80697e-09	3.51017e-09	1	1	0
NTNG2	84628	broad.mit.edu	37	9	135042385	135042385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:135042385C>T	ENST00000393229.3	+	2	943	c.167C>T	c.(166-168)cCc>cTc	p.P56L	NTNG2_ENST00000360670.3_Missense_Mutation_p.P56L|NTNG2_ENST00000393228.4_Missense_Mutation_p.P56L|NTNG2_ENST00000372179.3_Missense_Mutation_p.P56L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	56	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AAGGTGGAGCCCTCAGGCATC	0.582000													29	42					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:62845321C>A	ENST00000512091.1	+	17	3389	c.2642C>A	c.(2641-2643)aCg>aAg	p.T881K	LPHN3_ENST00000504896.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T949K|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514591.1_Missense_Mutation_p.T881K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881K|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T881M(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGTGATCACGTGGGTTGGA	0.448000													74	133					7.62465e-47	1.29e-46	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87692376	87692376	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:87692376C>G	ENST00000436978.1	+	31	5351	c.4871C>G	c.(4870-4872)tCt>tGt	p.S1624C	PTPN13_ENST00000316707.6_Missense_Mutation_p.S1428C|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1619C|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1624C|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1600C	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1619						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAAGACTCTTCTCAGCCATCA	0.413000													4	10					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78350072	78350072	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:78350072T>C	ENST00000255189.3	-	4	503	c.475A>G	c.(475-477)Aca>Gca	p.T159A	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	159					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TACTGTTCTGTTGCATGCCAG	0.398000													31	50					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785627	140785627	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:140785627T>C	ENST00000370515.3	-	2	622	c.289A>G	c.(289-291)Aag>Gag	p.K97E		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTGCTACTTTGCAGGTATT	0.458000													73	39					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291539	15291539	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:15291539A>G	ENST00000263388.2	-	19	3170	c.3095T>C	c.(3094-3096)cTc>cCc	p.L1032P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1032	EGF-like 26.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GATGTCACAGAGGCGTCCGCT	0.657000													3	1					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575090	48575090	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:48575090A>G	ENST00000342988.3	+	3	822	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y95C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	95	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)|p.Y95S(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATGTGATCTATGCCCGTCTC	0.368000													26	16					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860810	30860810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:30860810C>A	ENST00000403066.1	-	9	767	c.484G>T	c.(484-486)Gga>Tga	p.G162*	SEC14L3_ENST00000215812.4_Nonsense_Mutation_p.G221*|SEC14L3_ENST00000540910.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000415957.2_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000402286.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000401751.1_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000539629.1_Nonsense_Mutation_p.G162*			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	221	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TACTTACTTCCCAACACAATA	0.468000													37	71					4.00102e-26	6.39316e-26	1	1	0
PRSS48	345062	broad.mit.edu	37	4	152212286	152212286	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:152212286C>A	ENST00000455694.2	+	5	670	c.668C>A	c.(667-669)cCt>cAt	p.P223H	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.P80H	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	223	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TCTGGAGGGCCTCTGTCGTGT	0.418000													8	41					0.000157383	0.000170053	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35365814	35365814	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:35365814G>A	ENST00000373347.1	-	4	1436	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R390C			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	390					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGCATCCTGCGGCAGGGGATC	0.627000													39	90					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885745	88885745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:88885745G>T	ENST00000319675.3	-	1	551	c.455C>A	c.(454-456)aCt>aAt	p.T152N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	152										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACAGCTTGGAGTATCTGCAAG	0.552000													32	68					1.13719e-10	1.48994e-10	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124350194	124350194	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:124350194G>T	ENST00000338354.3	+	18	2227	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R	DMBT1_ENST00000368955.3_Silent_p.R697R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.R697R|DMBT1_ENST00000368909.3_Silent_p.R707R|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	707					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCAGTCCCGGTCGACGCCCA	0.517000													39	261					5.20837e-25	8.27857e-25	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99872827	99872827	+	Silent	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:99872827T>G	ENST00000524871.1	+	9	1229	c.939T>G	c.(937-939)gcT>gcG	p.A313A	CNTN5_ENST00000528682.1_Silent_p.A313A|CNTN5_ENST00000279463.3_Silent_p.A313A|CNTN5_ENST00000527185.1_Silent_p.A313A|CNTN5_ENST00000418526.2_Silent_p.A239A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	313	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTACAGCTGCTAAAGGAACAA	0.338000													4	6					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309335	248309335	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:248309335G>A	ENST00000366476.1	+	1	886	c.886G>A	c.(886-888)Gag>Aag	p.E296K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCGCAACAAGGAGGTGACCAG	0.473000													54	53					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76763649	76763649	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:76763649G>A	ENST00000538941.2	-	25	3183	c.2244C>T	c.(2242-2244)taC>taT	p.Y748Y	SCAPER_ENST00000563290.1_Silent_p.Y994Y|SCAPER_ENST00000324767.7_Silent_p.Y994Y	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	993	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGGTGAGGTTGTAAACATTGA	0.353000													6	19					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104924380	104924380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:104924380G>C	ENST00000507740.1	+	4	1452	c.1216G>C	c.(1216-1218)Gga>Cga	p.G406R	RIMS2_ENST00000262231.10_Missense_Mutation_p.G453R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G598R|RIMS2_ENST00000436393.2_Missense_Mutation_p.G376R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	676					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCGAGATTCAGGAGCAATGCT	0.378000										HNSCC(12;0.0054)			24	66					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962511	69962511	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:69962511G>T	ENST00000305231.7	+	1	319	c.273G>T	c.(271-273)atG>atT	p.M91I	UGT2B7_ENST00000508661.1_Missense_Mutation_p.M91I|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	91					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTTCATCATGCAACAGATTA	0.333000													11	50					0.00829132	0.00861955	1	1	0
TPK1	27010	broad.mit.edu	37	7	144364850	144364850	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:144364850C>A	ENST00000538212.2	-	3	209	c.139G>T	c.(139-141)Ggt>Tgt	p.G47C	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000360057.3_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ttgccaagacccttggaagct	0.463000													15	25					1.5739e-10	2.05765e-10	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784199	9784199	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:9784199G>T	ENST00000304374.2	+	1	942	c.546G>T	c.(544-546)agG>agT	p.R182S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	182					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACTGGCACAGGGACCAGGCGG	0.617000													18	49					1.33834e-09	1.68407e-09	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116616668	116616668	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:116616668T>A	ENST00000395715.3	-	4	2105	c.1528A>T	c.(1528-1530)Aag>Tag	p.K510*	TRPS1_ENST00000519674.1_Nonsense_Mutation_p.K497*|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.K501*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.K497*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	497					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGTCTGTCTTGGTCATTGTC	0.448000									Langer-Giedion syndrome				49	99					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089450	12089450	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:12089450T>A	ENST00000343949.5	+	4	875	c.720T>A	c.(718-720)ttT>ttA	p.F240L	ZNF763_ENST00000590798.1_Missense_Mutation_p.F257L|ZNF763_ENST00000538752.1_Missense_Mutation_p.F257L|ZNF763_ENST00000545530.1_Missense_Mutation_p.F115L|ZNF763_ENST00000358987.3_Missense_Mutation_p.F237L	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTAAATCCTTTAGTTATTCTG	0.378000													27	31					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40080634	40080634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:40080634C>T	ENST00000373233.3	-	22	3532	c.3355G>A	c.(3355-3357)Ggc>Agc	p.G1119S	CHD6_ENST00000309279.7_Missense_Mutation_p.G602S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1119					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGAATCGGCCATGAGTCAGG	0.552000													18	37					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:45353208C>A	ENST00000303230.4	-	5	1428	c.1371G>T	c.(1369-1371)ctG>ctT	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343000													11	89					4.68919e-08	5.61958e-08	1	1	0
RND1	27289	broad.mit.edu	37	12	49255801	49255801	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:49255801T>A	ENST00000309739.5	-	3	439	c.309A>T	c.(307-309)gcA>gcT	p.A103A		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	103					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CCTTCTTGAGTGCGCTGTCCA	0.468000													20	31					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48339650	48339650	+	Splice_Site	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:48339650A>T	ENST00000221996.7	+	3	457	c.252_splice	c.e3+1	p.Q84_splice	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Splice_Site_p.Q84_splice	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	84					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCAGGGTTCAGGTGGGGTGG	0.597000													19	33					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537122	27537122	+	RNA	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:27537122C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCATTGCTGTCTGAGGCTGCC	0.473000													37	92					0	0	1	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116464	28116464	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:28116464G>T	ENST00000330236.6	+	2	463	c.279G>T	c.(277-279)ctG>ctT	p.L93L	ZKSCAN8_ENST00000457389.2_Silent_p.L93L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		TCCTGGAGCTGCTGGTGCTGG	0.542000													28	35					2.79863e-10	3.62741e-10	1	1	0
TOP2B	7155	broad.mit.edu	37	3	25640955	25640955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:25640955C>A	ENST00000435706.2	-	35	4867	c.4666G>T	c.(4666-4668)Ggc>Tgc	p.G1556C	TOP2B_ENST00000540199.1_Missense_Mutation_p.G413C|TOP2B_ENST00000542520.1_Missense_Mutation_p.G413C|TOP2B_ENST00000264331.4_Missense_Mutation_p.G1561C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1561					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTTTTCCTGCCAGGGTTATAA	0.393000													8	18					0.00621372	0.00647084	1	1	0
PASD1	139135	broad.mit.edu	37	X	150832662	150832662	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:150832662G>A	ENST00000370357.4	+	11	1158	c.913G>A	c.(913-915)Gag>Aag	p.E305K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	305						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGACCTGGAGTTCTCGGT	0.577000													42	18					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406722	77406722	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:77406722C>G	ENST00000560626.2	-	7	5492	c.5017G>C	c.(5017-5019)Gat>Cat	p.D1673H	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1673H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1673	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGGAAGAGATCTTCGCGGGGG	0.562000													32	57					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118905627	118905627	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:118905627C>A	ENST00000264234.3	+	2	188	c.39C>A	c.(37-39)ggC>ggA	p.G13G	RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000497685.1_Intron|UPK1B_ENST00000460625.1_Silent_p.G13G	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	13					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GCTTCCAGGGCCTGCTGATTT	0.383000													26	49					4.7796e-09	5.94008e-09	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74091117	74091117	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:74091117G>A	ENST00000443185.2	-	4	3270	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGGAGGTGGACCCTGAGGC	0.657000													7	20					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978706	138978706	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:138978706C>T	ENST00000288561.8	+	17	3973	c.3724C>T	c.(3724-3726)Cac>Tac	p.H1242Y	UBN2_ENST00000473989.2_Missense_Mutation_p.H1325Y	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1325										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCTGCCTGCACACTTACAGCA	0.433000													27	38					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689186	45689186	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:45689186C>A	ENST00000216211.4	+	5	728	c.696C>A	c.(694-696)ctC>ctA	p.L232L	UPK3A_ENST00000396082.2_Silent_p.L111L	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	232					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCATTGCCCTCAGCCTCGTGT	0.627000													7	49					0.00448238	0.00470027	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23524578	23524578	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:23524578C>A	ENST00000296682.3	+	10	1268	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	362	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGAATACGGCCAGGAACTGG	0.512000										HNSCC(3;0.000094)			33	61					2.42023e-17	3.60943e-17	1	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834545	94834545	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:94834545C>A	ENST00000371531.1	+	3	595	c.217C>A	c.(217-219)Cgg>Agg	p.R73R	CYP26A1_ENST00000394139.1_Silent_p.R73R|CYP26A1_ENST00000224356.4_Silent_p.R142R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	142					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GGTGATTATGCGGGCCTTCAG	0.657000													7	19					8.12818e-05	8.8778e-05	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166533	140166533	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140166533C>G	ENST00000504120.2	+	1	658	c.658C>G	c.(658-660)Ccg>Gcg	p.P220A	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P220A|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P220A	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGCAAACCGGAGCTGCA	0.453000													34	64					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996076	19996076	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:19996076G>A	ENST00000391403.2	-	1	1802	c.1699C>T	c.(1699-1701)Ccg>Tcg	p.P567S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	567						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGTTCCCACGGAGGTGCCAGG	0.488000													165	50					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237942060	237942060	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:237942060A>T	ENST00000366574.2	+	88	12187	c.11870A>T	c.(11869-11871)aAg>aTg	p.K3957M	RYR2_ENST00000542537.1_Missense_Mutation_p.K3941M|RYR2_ENST00000360064.6_Missense_Mutation_p.K3963M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3957					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGATGAAGCTGTCGCAG	0.448000													17	31					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115963186	115963186	+	Missense_Mutation	SNP	G	G	T	rs138005760		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:115963186G>T	ENST00000251864.2	+	8	994	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	TDRD1_ENST00000369281.2_Missense_Mutation_p.V281L|TDRD1_ENST00000369282.1_Missense_Mutation_p.V281L|TDRD1_ENST00000369280.1_Missense_Mutation_p.V281L|TDRD1_ENST00000422662.1_5'UTR	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	281					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGACTTCTACGTGCAGTTATA	0.348000													12	55					0.00010058	0.000109263	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182026493	182026493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:182026493C>A	ENST00000339948.3	-	2	860	c.653G>T	c.(652-654)aGc>aTc	p.S218I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCAGCCAGGCTGGCTGGGGT	0.667000													12	13					5.16669e-11	6.81371e-11	1	1	0
DEFA5	1670	broad.mit.edu	37	8	6914088	6914088	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:6914088G>T	ENST00000330590.2	-	1	168	c.132C>A	c.(130-132)atC>atA	p.I44I		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	44					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTGCAAAGGAGATAGCAAGGT	0.498000													27	104					2.79863e-10	3.62741e-10	1	1	0
OR2A2	442361	broad.mit.edu	37	7	143807143	143807143	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:143807143G>T	ENST00000408979.2	+	1	537	c.468G>T	c.(466-468)ctG>ctT	p.L156L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTGTCCCTGGTACATGAAA	0.542000													41	41					3.38236e-24	5.36206e-24	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248113083	248113083	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:248113083C>T	ENST00000357191.3	+	1	924	c.924C>T	c.(922-924)tgC>tgT	p.C308C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAGAATCTGCTCTGTGAAAA	0.448000													7	73					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806361	33806361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:33806361G>T	ENST00000260908.7	-	2	985	c.868C>A	c.(868-870)Cct>Act	p.P290T	SLFN12L_ENST00000361112.4_Missense_Mutation_p.P319T|SLFN12L_ENST00000449046.1_Missense_Mutation_p.P321T	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	322						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGATGCACAGGCAGTTTCCCA	0.363000													9	5					1.12685e-05	1.26744e-05	1	1	0
BTD	686	broad.mit.edu	37	3	15686094	15686094	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:15686094C>T	ENST00000383778.4	+	4	1029	c.671C>T	c.(670-672)aCa>aTa	p.T224I	BTD_ENST00000449107.1_Missense_Mutation_p.T246I|BTD_ENST00000437172.1_Missense_Mutation_p.T246I|BTD_ENST00000303498.5_Missense_Mutation_p.T244I			P43251	BTD_HUMAN	biotinidase	244	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGCATCTTCACATGCTTTGAT	0.468000													45	71					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225729344	225729344	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:225729344T>A	ENST00000409592.3	-	13	1623	c.1510A>T	c.(1510-1512)Aaa>Taa	p.K504*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.K510*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	510							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTTCGATTTTGGCCACCAAA	0.363000													19	34					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100492147	100492147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:100492147C>A	ENST00000279907.7	-	5	723	c.511G>T	c.(511-513)Gat>Tat	p.D171Y	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D171Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	171										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCTGTGGATCCTGAATACGA	0.348000													32	64					1.61788e-16	2.3661e-16	1	1	0
C3AR1	719	broad.mit.edu	37	12	8211766	8211766	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:8211766G>C	ENST00000307637.4	-	2	1219	c.1016C>G	c.(1015-1017)aCt>aGt	p.T339S		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	339					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CACTAGCCTAGTGATCGTTAT	0.488000													5	144					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186389478	186389478	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:186389478G>A	ENST00000232003.4	+	4	538	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	153	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GATACTGAGCGCTACAGAAAA	0.453000													33	30					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760658	133760658	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:133760658G>T	ENST00000318560.5	+	11	3362	c.2981G>T	c.(2980-2982)gGg>gTg	p.G994V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	994	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCCTGGCAGGGGACCAGCCG	0.667000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								18	75					1.99824e-07	2.32999e-07	1	1	0
OR51D1	390038	broad.mit.edu	37	11	4661210	4661210	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:4661210G>A	ENST00000357605.2	+	1	266	c.190G>A	c.(190-192)Gtg>Atg	p.V64M		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCATTCGTGTGGAGAGGCG	0.532000													22	83					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100151103	100151103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:100151103G>T	ENST00000300176.4	+	4	687	c.565G>T	c.(565-567)Gct>Tct	p.A189S	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	189					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTCTCAGTTGCTGCCTCCAC	0.547000													23	60					1.10513e-12	1.51018e-12	1	1	0
XPO1	7514	broad.mit.edu	37	2	61721088	61721088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:61721088C>A	ENST00000401558.2	-	12	1913	c.1186G>T	c.(1186-1188)Gga>Tga	p.G396*	XPO1_ENST00000406957.1_Nonsense_Mutation_p.G396*|XPO1_ENST00000404992.2_Nonsense_Mutation_p.G396*	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	396	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGTTGACTTCCAGAAAGCAAC	0.408000			Mis		CLL								64	117					1.72039e-30	2.78583e-30	1	1	0
CARD18	59082	broad.mit.edu	37	11	105009794	105009794	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:105009794G>A	ENST00000530950.1	-	2	18	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	7	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						CTCTTTTTACGCAAGAGTTGG	0.373000													16	54					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239185819	239185819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:239185819G>T	ENST00000254657.3	-	3	525	c.246C>A	c.(244-246)agC>agA	p.S82R	PER2_ENST00000355768.2_Missense_Mutation_p.S82R|PER2_ENST00000440245.1_Missense_Mutation_p.S82R|PER2_ENST00000254658.3_Missense_Mutation_p.S82R	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	82					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCATCATCAGGCTAAAGGTAT	0.383000													79	172					2.51111e-31	4.08816e-31	1	1	0
LRRC57	255252	broad.mit.edu	37	15	42839596	42839596	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:42839596G>C	ENST00000323443.2	-	3	722	c.355C>G	c.(355-357)Caa>Gaa	p.Q119E	LRRC57_ENST00000563454.1_Missense_Mutation_p.Q119E|LRRC57_ENST00000397130.3_Missense_Mutation_p.Q119E			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	119										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GCTCCCAGTTGGTTCCCAGAG	0.502000													24	29					0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1430307	1430307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:1430307G>A	ENST00000336761.6	+	10	1022	c.817G>A	c.(817-819)Ggc>Agc	p.G273S	DAZAP1_ENST00000233078.4_Missense_Mutation_p.G273S	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	273	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCCTGGAGGCTTTCCCCC	0.672000													11	5					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566354	45566354	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:45566354C>A	ENST00000588982.1	-	3	1626	c.1125G>T	c.(1123-1125)ggG>ggT	p.G375G	ZBTB7C_ENST00000535628.2_Silent_p.G375G|ZBTB7C_ENST00000586438.1_Silent_p.G375G|ZBTB7C_ENST00000332053.2_Silent_p.G375G|ZBTB7C_ENST00000590800.1_Silent_p.G375G			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	375						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTTCCCGGCCCCCATGATGA	0.637000													31	38					4.3181e-19	6.52033e-19	1	1	0
TAAR9	134860	broad.mit.edu	37	6	132859982	132859982	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:132859982C>A	ENST00000434551.1	+	0	554					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GTTGCTCTAACCTGTGTAGGA	0.418000													75	45					1.7488e-33	2.86253e-33	1	1	0
FBXO32	114907	broad.mit.edu	37	8	124546959	124546959	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:124546959C>T	ENST00000517956.1	-	2	403	c.212G>A	c.(211-213)aGc>aAc	p.S71N	FBXO32_ENST00000443022.2_Missense_Mutation_p.S71N	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	71								p.S71T(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGGTTTTGCTATTCAGCAT	0.358000													15	57					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814834	106814834	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:106814834C>A	ENST00000407775.2	+	8	2774	c.2524C>A	c.(2524-2526)Cgg>Agg	p.R842R	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.R710R|ZFPM2_ENST00000517361.1_Silent_p.R710R|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.R573R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	842					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGTCTGAGCGGACGACCAC	0.463000													7	16					1	1	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144892528	144892528	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:144892528C>T	ENST00000369359.4	-	25	3326	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	PDE4DIP_ENST00000369356.4_Silent_p.E959E|PDE4DIP_ENST00000530740.1_Silent_p.E1096E|PDE4DIP_ENST00000369349.3_Silent_p.E959E|PDE4DIP_ENST00000369351.3_Silent_p.E959E|PDE4DIP_ENST00000369354.3_Silent_p.E959E|PDE4DIP_ENST00000313431.9_Silent_p.E1122E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.E1025E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	959					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGCAGCCTCCTCCTCAATAC	0.517000			T	PDGFRB	MPD								22	133					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467011	21467011	+	Silent	SNP	G	G	A	rs143903868	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:21467011G>A	ENST00000281523.2	-	6	1343	c.825C>T	c.(823-825)caC>caT	p.H275H		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	275						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CCGAGTTGACGTGCACATCAC	0.433000													16	67					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114087	168114087	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:168114087A>G	ENST00000519560.1	-	30	3630	c.3211T>C	c.(3211-3213)Tgt>Cgt	p.C1071R	SLIT3_ENST00000404867.3_Missense_Mutation_p.C1071R|SLIT3_ENST00000332966.8_Missense_Mutation_p.C1078R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1071	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTCTCACAGAGCTTCCCG	0.597000													9	27					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23309710	23309710	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:23309710T>C	ENST00000258733.4	+	9	1640	c.1345T>C	c.(1345-1347)Tct>Cct	p.S449P	GPNMB_ENST00000539136.1_Missense_Mutation_p.S350P|GPNMB_ENST00000453162.2_Missense_Mutation_p.S403P|GPNMB_ENST00000381990.2_Missense_Mutation_p.S461P			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	461					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTTCAATGGGTCTGGGACGTA	0.527000													4	82					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28360587	28360587	+	Silent	SNP	C	C	T	rs142882696		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:28360587C>T	ENST00000261609.7	-	89	13818	c.13710G>A	c.(13708-13710)gcG>gcA	p.A4570A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4570	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACTGAGGTCCGCGATGGTGA	0.627000													4	20					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109306360	109306360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:109306360C>T	ENST00000299134.5	-	14	1401	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						ACCGTGCATTCCTCGGCCGAC	0.622000													100	139					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112909	197112909	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:197112909T>C	ENST00000367409.4	-	3	729	c.473A>G	c.(472-474)aAa>aGa	p.K158R	ASPM_ENST00000294732.7_Missense_Mutation_p.K158R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	158					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGCTGAAATTTTCTTCTTTTT	0.308000													7	66					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305211	54305211	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:54305211G>T	ENST00000545554.1	+	1	111	c.111G>T	c.(109-111)caG>caT	p.Q37H	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q37H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q37H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	37					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGTATCGTCAGCAGAAAAAGG	0.348000													13	61					7.03913e-09	8.73025e-09	1	1	0
TBKBP1	9755	broad.mit.edu	37	17	45774121	45774121	+	Silent	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:45774121G>C	ENST00000361722.3	+	2	1119	c.270G>C	c.(268-270)ctG>ctC	p.L90L		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	90					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCTTTTCTCTGTATGAAATCA	0.592000													19	14					0	0	1	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1																						TGATTTTCTTCGCACTGATCC	0.408000													7	33					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856094	12856094	+	Silent	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:12856094T>G	ENST00000332296.7	+	4	1477	c.1374T>G	c.(1372-1374)ccT>ccG	p.P458P	PRAMEF1_ENST00000400814.3_Silent_p.P213P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	458										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCTGCCCTTCCTGTGGCT	0.562000													6	137					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151378855	151378855	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:151378855T>C	ENST00000271715.2	-	19	2970	c.2656A>G	c.(2656-2658)Act>Gct	p.T886A	POGZ_ENST00000409503.1_Missense_Mutation_p.T877A|POGZ_ENST00000392723.1_Missense_Mutation_p.T833A|POGZ_ENST00000368863.2_Missense_Mutation_p.T791A|POGZ_ENST00000540984.1_Missense_Mutation_p.T248A|POGZ_ENST00000531094.1_Missense_Mutation_p.T824A|POGZ_ENST00000491586.1_Missense_Mutation_p.T842A|POGZ_ENST00000361398.3_Missense_Mutation_p.T833A	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	886	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATTTCACAGTGGCAGCTTTG	0.577000													26	67					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947876	21947876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:21947876C>T	ENST00000406877.3	-	4	832	c.553G>A	c.(553-555)Gac>Aac	p.D185N	CDCA7L_ENST00000356195.5_Missense_Mutation_p.D151N|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D139N	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	185					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TGTCTACAGTCTTTCTTTCTT	0.433000													19	41					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56101365	56101365	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:56101365A>T	ENST00000416613.1	+	8	1522	c.1450A>T	c.(1450-1452)Act>Tct	p.T484S	KTN1_ENST00000395311.1_Missense_Mutation_p.T484S|KTN1_ENST00000438792.2_Missense_Mutation_p.T484S|KTN1_ENST00000395309.3_Missense_Mutation_p.T484S|KTN1_ENST00000413890.2_Missense_Mutation_p.T484S|KTN1_ENST00000395314.3_Missense_Mutation_p.T484S|KTN1_ENST00000395308.1_Missense_Mutation_p.T484S			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	484					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCAAGCAGCTACTCAGTTGAA	0.408000			T	RET	papillary thryoid								20	13					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442438	138442438	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:138442438C>G	ENST00000344876.4	-	4	3539	c.3153G>C	c.(3151-3153)caG>caC	p.Q1051H	PCDH18_ENST00000511115.1_Missense_Mutation_p.Q231H|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q830H|PCDH18_ENST00000510305.1_Missense_Mutation_p.Q262H|PCDH18_ENST00000412923.2_Missense_Mutation_p.Q1050H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1051	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCGCTACCCCCTGTGGGTAAC	0.562000													11	40					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363758	22363758	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:22363758T>G	ENST00000397121.2	-	3	1078	c.761A>C	c.(760-762)aAa>aCa	p.K254T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTTCACATTTGTAGGGTTT	0.388000													8	108					0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191827619	191827619	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:191827619C>G	ENST00000320717.3	+	18	2175	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	GLS_ENST00000409428.1_Silent_p.L144L	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	639					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTAAAATTCTCCAAGAATACC	0.428000													23	45					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46621003	46621003	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:46621003C>G	ENST00000330070.4	-	2	1665	c.498G>C	c.(496-498)aaG>aaC	p.K166N	HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	166					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GGCACAGGTACTTATTAAAGT	0.622000													13	39					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969641	240969641	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:240969641A>T	ENST00000402971.2	-	1	265	c.206T>A	c.(205-207)cTg>cAg	p.L69Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCAGATCTCCAGGAAAGACAT	0.557000													37	79					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161022062	161022062	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:161022062G>T	ENST00000447678.1	-	20	3134	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	LPA_ENST00000316300.5_Missense_Mutation_p.P1005H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3513	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTGACACTGGGATCTGTTGT	0.488000													39	38					3.93418e-24	6.2043e-24	1	1	0
ZNF626	199777	broad.mit.edu	37	19	20807917	20807917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:20807917G>T	ENST00000601440.1	-	4	912	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CACTTGTAGGGTTTCTCTCCA	0.388000													11	61					0.000673444	0.000716127	1	1	0
FAM173B	134145	broad.mit.edu	37	5	10227733	10227733	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:10227733T>A	ENST00000280330.8	-	6	636	c.30A>T	c.(28-30)gaA>gaT	p.E10D	FAM173B_ENST00000510047.1_Missense_Mutation_p.E157D|FAM173B_ENST00000511437.1_Missense_Mutation_p.E174D|FAM173B_ENST00000510052.1_5'UTR			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	174						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAAGTTCACGTTCAAGTTTCT	0.468000													23	33					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61721087	61721087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:61721087C>A	ENST00000401558.2	-	12	1914	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	XPO1_ENST00000406957.1_Missense_Mutation_p.G396V|XPO1_ENST00000404992.2_Missense_Mutation_p.G396V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	396	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATGTTGACTTCCAGAAAGCAA	0.413000			Mis		CLL								62	119					5.82218e-30	9.40266e-30	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209794	140209794	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140209794G>A	ENST00000529310.1	+	1	2232	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTGCGCGGTATCCAGCC	0.697000													9	78					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819798	20819798	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:20819798G>A	ENST00000328879.4	-	4	615	c.459C>T	c.(457-459)ctC>ctT	p.L153L	KLHL22_ENST00000440659.2_Silent_p.L10L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	153					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGTAGACATCGAGAATGTTCT	0.498000													36	60					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102593161	102593161	+	Splice_Site	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:102593161T>A	ENST00000236826.3	-	2	444	c.347_splice	c.e2+1	p.R116_splice		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	116					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGATATCACCTGTAGGTCAAG	0.458000													13	37					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125081669	125081669	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:125081669A>T	ENST00000522917.1	+	29	3993	c.3787A>T	c.(3787-3789)Aag>Tag	p.K1263*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.K1263*|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1263						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAAATGCTCAAGAAGAAACC	0.468000													9	56					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346862	48346862	+	Missense_Mutation	SNP	G	G	A	rs149944761		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:48346862G>A	ENST00000319856.4	+	1	391	c.370G>A	c.(370-372)Gct>Act	p.A124T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGCTGCATGGCTCAGCTCTT	0.453000													48	284					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56892962	56892962	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:56892962C>A	ENST00000256857.2	+	2	476	c.378C>A	c.(376-378)ggC>ggA	p.G126G	GRP_ENST00000529320.2_Intron|GRP_ENST00000420468.2_Silent_p.G126G	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	126					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GTTCAAAAGGCAAAGGTAAAA	0.478000													86	63					1.51188e-25	2.40943e-25	1	1	0
DPP6	1804	broad.mit.edu	37	7	154564564	154564564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:154564564G>A	ENST00000404039.1	+	10	1443	c.856G>A	c.(856-858)Gag>Aag	p.E286K	DPP6_ENST00000427557.1_Missense_Mutation_p.E243K|DPP6_ENST00000377770.3_Missense_Mutation_p.E350K|DPP6_ENST00000332007.3_Missense_Mutation_p.E288K	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	350					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGCTGGAAGTGAGAACCCCAG	0.498000													8	12					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103340802	103340802	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:103340802A>C	ENST00000307584.5	+	1	442	c.377A>C	c.(376-378)aAg>aCg	p.K126T		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	126					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAAATAATGAAGAAAAACAAA	0.373000													26	27					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121890960	121890960	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:121890960C>A	ENST00000377069.4	-	13	2235	c.1829G>T	c.(1828-1830)cGc>cTc	p.R610L	KDM2B_ENST00000536437.1_Missense_Mutation_p.R524L|KDM2B_ENST00000377071.4_Missense_Mutation_p.R641L|KDM2B_ENST00000542973.1_Missense_Mutation_p.R9L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	641					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCTTCATGCGCCCGGGGCC	0.706000													6	11					0.0293803	0.0297747	1	1	0
CDK15	65061	broad.mit.edu	37	2	202700438	202700438	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:202700438C>A	ENST00000450471.2	+	8	889	c.803C>A	c.(802-804)cCt>cAt	p.P268H	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.P268H|CDK15_ENST00000374598.4_Missense_Mutation_p.P268H|CDK15_ENST00000410091.3_Missense_Mutation_p.P217H|CDK15_ENST00000260967.2_Missense_Mutation_p.P217H	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	268	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TACCGGCCCCCTGATGCTTTG	0.522000													12	37					0.000978159	0.00103651	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11540016	11540016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:11540016C>A	ENST00000262442.3	+	9	1769	c.1701C>A	c.(1699-1701)taC>taA	p.Y567*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Y567*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	567	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGATAAATACCTGGTCCTCA	0.458000													37	26					3.93418e-24	6.2043e-24	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234106868	234106868	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:234106868G>T	ENST00000359570.5	+	27	2785	c.2785G>T	c.(2785-2787)Gcc>Tcc	p.A929S	INPP5D_ENST00000450745.1_Missense_Mutation_p.A693S|INPP5D_ENST00000455936.2_Missense_Mutation_p.A693S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	941	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCAGCCCACAGCCTGGAGCTA	0.637000													7	42					0.000274275	0.000293727	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55110891	55110891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:55110891C>A	ENST00000314721.2	+	1	265	c.215C>A	c.(214-216)tCc>tAc	p.S72Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72Y(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCCATATATTCCACTGCCATG	0.443000													66	161					1.55545e-33	2.55296e-33	1	1	0
VSTM2A	222008	broad.mit.edu	37	7	54617659	54617659	+	Missense_Mutation	SNP	G	G	T	rs17852553		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:54617659G>T	ENST00000302287.3	+	4	836	c.430G>T	c.(430-432)Gcc>Tcc	p.A144S	VSTM2A_ENST00000407838.3_Missense_Mutation_p.A144S|VSTM2A_ENST00000404951.1_Missense_Mutation_p.A144S|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.A143S|VSTM2A_ENST00000402613.3_Missense_Mutation_p.A144S			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	144						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CAAGGCCCAGGCCTATCTGAA	0.532000													5	12					0.014758	0.0150571	1	1	0
ABAT	18	broad.mit.edu	37	16	8868885	8868885	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:8868885T>C	ENST00000396600.2	+	13	2031	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L	ABAT_ENST00000268251.8_Missense_Mutation_p.F365L|ABAT_ENST00000569156.1_Missense_Mutation_p.F365L|ABAT_ENST00000567812.1_Missense_Mutation_p.F380L|ABAT_ENST00000425191.2_Missense_Mutation_p.F365L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	365					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGGGGGCTTCTTCCACAAGGA	0.557000													4	67					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232725	172232725	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:172232725C>T	ENST00000241261.2	-	2	318	c.196G>A	c.(196-198)Gac>Aac	p.D66N	TNFSF10_ENST00000420541.2_Missense_Mutation_p.D66N	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	66					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCATTGGGGTCCCAATAACTG	0.448000													44	69					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156268	145156268	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:145156268C>A	ENST00000558170.2	-	8	3670	c.2486G>T	c.(2485-2487)aGt>aTt	p.S829I	ZEB2_ENST00000303660.4_Missense_Mutation_p.S829I|ZEB2_ENST00000409487.3_Missense_Mutation_p.S829I|ZEB2_ENST00000539609.3_Missense_Mutation_p.S805I	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	829						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGCTATAATACTTTTGGGTTC	0.398000													46	76					1.44828e-35	2.40319e-35	1	1	0
ST18	9705	broad.mit.edu	37	8	53092835	53092835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:53092835C>A	ENST00000276480.7	-	9	807	c.124G>T	c.(124-126)Gct>Tct	p.A42S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	42						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGATCTTCAGCTGTTCTCTTC	0.438000													39	96					3.09479e-21	4.78069e-21	1	1	0
OR9Q1	219956	broad.mit.edu	37	11	57947239	57947239	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:57947239G>C	ENST00000335397.3	+	3	639	c.323G>C	c.(322-324)gGt>gCt	p.G108A		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACCTTCTTTGGTTCCATCGAC	0.557000													22	87					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560848	44560848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:44560848G>T	ENST00000332567.4	-	1	1140	c.788C>A	c.(787-789)cCa>cAa	p.P263Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	263					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCATCCTTGGGGTTTCCTC	0.607000													21	43					0.000132079	0.000143224	1	1	0
CLASRP	11129	broad.mit.edu	37	19	45561077	45561077	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:45561077G>A	ENST00000544944.2	+	6	1226	c.534G>A	c.(532-534)gcG>gcA	p.A178A	CLASRP_ENST00000221455.3_Silent_p.A178A|CLASRP_ENST00000391953.4_Silent_p.A116A			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	178					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TAGAGAAGGCGGCAGAAAAGC	0.612000													30	53					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874726	144874726	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:144874726C>T	ENST00000369359.4	-	33	5328	c.5290G>A	c.(5290-5292)Gag>Aag	p.E1764K	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1628K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1764K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1628K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1584K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1628					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.E1628*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTGTGTACTCGCTGACTATG	0.527000			T	PDGFRB	MPD								47	357					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169708	169708	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:169708G>T	ENST00000283426.6	+	12	2711		c.e12+1			NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGACACGTAAGTGCAGG	0.657000													25	68					5.45024e-15	7.80082e-15	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141046008	141046008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:141046008C>A	ENST00000239440.4	-	17	2620	c.2555G>T	c.(2554-2556)cGg>cTg	p.R852L	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R754L|ARAP3_ENST00000513878.1_Missense_Mutation_p.R514L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	852					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGTAGCCGCCGCAGATGCAC	0.622000													6	8					3.59834e-05	4.00995e-05	1	1	0
DKK2	27123	broad.mit.edu	37	4	107845814	107845814	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:107845814G>T	ENST00000285311.3	-	3	1122	c.417C>A	c.(415-417)atC>atA	p.I139I	DKK2_ENST00000510463.1_Silent_p.I93I|DKK2_ENST00000513208.1_Silent_p.I39I	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	139					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCAGAGCCGGGATGTGAGGGG	0.428000													24	91					2.21704e-12	3.00244e-12	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189936804	189936804	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:189936804G>A	ENST00000374866.3	-	18	1394	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	374					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GAAGAGCCTGGTATCCCAAGA	0.348000													7	17					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159091958	159091958	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:159091958G>T	ENST00000296530.8	-	2	1191	c.570C>A	c.(568-570)gcC>gcA	p.A190A	RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Silent_p.A190A|FAM198B_ENST00000393807.5_Silent_p.A190A|FAM198B_ENST00000592057.1_Silent_p.A190A|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	190						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTGGGCCCCCGGCTCGCACTC	0.612000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	19					0.00185496	0.00194851	1	1	0
CAD	790	broad.mit.edu	37	2	27465789	27465789	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:27465789A>G	ENST00000264705.4	+	42	6590	c.6428A>G	c.(6427-6429)tAc>tGc	p.Y2143C	CAD_ENST00000403525.1_Missense_Mutation_p.Y2080C	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2143	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GATGTGCTCTACATGACTCGA	0.582000													18	25					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34671710	34671710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:34671710C>A	ENST00000374789.3	-	9	1482	c.1157G>T	c.(1156-1158)aGc>aTc	p.S386I	PARD3_ENST00000340077.5_Missense_Mutation_p.S386I|PARD3_ENST00000374788.3_Missense_Mutation_p.S386I|PARD3_ENST00000346874.4_Missense_Mutation_p.S386I|PARD3_ENST00000374773.1_Missense_Mutation_p.S386I|PARD3_ENST00000350537.4_Missense_Mutation_p.S386I|PARD3_ENST00000544292.1_Missense_Mutation_p.S116I|PARD3_ENST00000374790.3_Missense_Mutation_p.S342I|PARD3_ENST00000374776.1_Missense_Mutation_p.S386I|PARD3_ENST00000545260.1_Missense_Mutation_p.S342I|PARD3_ENST00000545693.1_Missense_Mutation_p.S386I|PARD3_ENST00000374794.3_Missense_Mutation_p.S342I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	386					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AATATACTGGCTGTCAGGGCT	0.478000													14	72					3.27435e-08	3.95542e-08	1	1	0
TECTA	7007	broad.mit.edu	37	11	120984388	120984388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:120984388G>T	ENST00000392793.1	+	6	1022	c.751G>T	c.(751-753)Gga>Tga	p.G251*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.G251*			O75443	TECTA_HUMAN	tectorin alpha	251	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAAAGTTGATGGAAAGGAAAT	0.502000													16	36					1.15088e-07	1.34977e-07	1	1	0
ZNF37A	7587	broad.mit.edu	37	10	38407051	38407051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:38407051G>T	ENST00000351773.3	+	8	1802	c.972G>T	c.(970-972)gaG>gaT	p.E324D	ZNF37A_ENST00000361085.4_Missense_Mutation_p.E324D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	324						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						ATACAGGGGAGAGACCTTATG	0.413000													26	57					3.08376e-08	3.74015e-08	1	1	0
C9	735	broad.mit.edu	37	5	39342272	39342272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:39342272C>A	ENST00000263408.4	-	2	199	c.104G>T	c.(103-105)aGt>aTt	p.S35I	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	35					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGCAGAGCCACTGCTTTCTGT	0.428000													32	34					5.60225e-13	7.74315e-13	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23866407	23866407	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:23866407G>A	ENST00000269142.5	+	7	2532	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S	TAF4B_ENST00000578121.1_Missense_Mutation_p.G512S|TAF4B_ENST00000400466.2_Missense_Mutation_p.G512S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	512	Required for interaction with P65/RELA.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TGCCCAGCCGGGCCCTGTCCT	0.443000													29	227					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163131740	163131740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:163131740C>A	ENST00000313961.5	-	3	459	c.182G>T	c.(181-183)tGg>tTg	p.W61L	RGS5_ENST00000367903.3_Missense_Mutation_p.W81L|RGS5_ENST00000530507.1_Missense_Mutation_p.W61L|RGS5_ENST00000534288.1_5'UTR|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	61					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGAATCACGCCACTGCAGGGC	0.418000													4	45					0.00909568	0.0093911	1	1	0
CDH2	1000	broad.mit.edu	37	18	25570298	25570298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:25570298G>T	ENST00000269141.3	-	10	1784	c.1361C>A	c.(1360-1362)aCa>aAa	p.T454K	CDH2_ENST00000399380.3_Missense_Mutation_p.T423K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	454	Cadherin 3.		T -> A (in dbSNP:rs17857112).		adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATCCTATTTGTTTCAAAGTC	0.408000													71	57					5.61366e-43	9.41847e-43	1	1	0
GNB3	2784	broad.mit.edu	37	12	6953051	6953051	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:6953051C>T	ENST00000229264.3	+	9	1013	c.608C>T	c.(607-609)gCc>gTc	p.A203V	GNB3_ENST00000435982.2_Missense_Mutation_p.A202V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	203					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATTTCGGGGGCCTGTGATGCC	0.562000													18	115					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100994546	100994546	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:100994546T>A	ENST00000193391.7	-	6	814	c.627A>T	c.(625-627)gaA>gaT	p.E209D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	209					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGAGGCACCTTCATAGGCGT	0.428000													20	50					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16672859	16672859	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:16672859G>A	ENST00000513610.1	-	37	5702	c.5248C>T	c.(5248-5250)Cac>Tac	p.H1750Y	MYO10_ENST00000505695.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000427430.2_Missense_Mutation_p.H1107Y|MYO10_ENST00000515803.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000274203.9_Missense_Mutation_p.H1107Y	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1750	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTGTCGACGTGGCCGTTGTAT	0.493000													5	47					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614103	3614103	+	RNA	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:3614103G>C	ENST00000301749.7	-	0	1240				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTCCACCAGGCCCCCTGGG	0.592000													18	25					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799453	45799453	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:45799453G>A	ENST00000553795.1	-	4	726	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	OR13A1_ENST00000374401.2_Missense_Mutation_p.R140W|OR13A1_ENST00000536058.1_Missense_Mutation_p.R140W	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCTGCGTACCGGTCATAGGCC	0.617000													10	19					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378050	19378050	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:19378050G>A	ENST00000550708.1	+	1	529	c.457G>A	c.(457-459)Ggg>Agg	p.G153R		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCATGACTGGGCATCTCTG	0.483000													13	259					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401853	89401853	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:89401853A>T	ENST00000439576.2	+	12	6411	c.6037A>T	c.(6037-6039)Aat>Tat	p.N2013Y	ACAN_ENST00000559004.1_Missense_Mutation_p.N2013Y|ACAN_ENST00000561243.1_Missense_Mutation_p.N2013Y|ACAN_ENST00000352105.7_Missense_Mutation_p.N2013Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2013					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCACCACCAATGTAAGTGG	0.522000													8	46					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24423246	24423246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:24423246G>T	ENST00000378386.3	+	10	1282	c.1189G>T	c.(1189-1191)Gga>Tga	p.G397*	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000378353.1_Nonsense_Mutation_p.G397*|MRS2_ENST00000535061.1_Nonsense_Mutation_p.G347*|MRS2_ENST00000443868.2_Nonsense_Mutation_p.G400*|MRS2_ENST00000543597.1_Nonsense_Mutation_p.G106*	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	397					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTCATTCCTTGGACGACAGCT	0.473000													58	70					3.84483e-29	6.19275e-29	1	1	0
OR8A1	390275	broad.mit.edu	37	11	124440003	124440003	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:124440003C>G	ENST00000284287.3	+	1	111	c.39C>G	c.(37-39)ccC>ccG	p.P13P		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCAGGCCTCCCACCCAGAGGA	0.522000													19	41					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10254823	10254823	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:10254823G>T	ENST00000280326.4	+	3	624	c.204G>T	c.(202-204)gtG>gtT	p.V68V	CCT5_ENST00000515676.1_Silent_p.V30V|CCT5_ENST00000503026.1_Silent_p.V47V|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000506600.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	68					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATGGAGATGTGACTGTAACTA	0.408000													45	84					2.00842e-17	3.00269e-17	1	1	0
FPGS	2356	broad.mit.edu	37	9	130569891	130569891	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:130569891C>G	ENST00000373245.1	+	8	718	c.668C>G	c.(667-669)tCt>tGt	p.S223C	FPGS_ENST00000373225.3_Missense_Mutation_p.S173C|FPGS_ENST00000373247.2_Missense_Mutation_p.S223C|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.S197C			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	223					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGAGTCTCCTCTCTTGGCATC	0.632000													12	19					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956491	16956491	+	RNA	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:16956491C>G	ENST00000412962.1	-	0	294																											gatggggtttcgccatgttgg	0.577000													3	30					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673452	186673452	+	Silent	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:186673452A>T	ENST00000343098.5	+	17	19686	c.19686A>T	c.(19684-19686)acA>acT	p.T6562T	FSIP2_ENST00000424728.1_Silent_p.T6473T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTAACTCAACAATTTCAAATG	0.313000													21	48					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31934831	31934831	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:31934831G>A	ENST00000375394.2	+	20	2504	c.2391G>A	c.(2389-2391)gaG>gaA	p.E797E	SKIV2L_ENST00000544581.1_Silent_p.E604E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	797						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GAGCTTTGGAGGAGCCTGACA	0.587000													43	33					0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157744	65157744	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:65157744C>T	ENST00000323544.4	+	6	1258	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	377	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCACTGCCCCCCTGGGACCTG	0.622000													17	34					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279797	163279797	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:163279797T>A	ENST00000328032.4	-	8	2393	c.2182A>T	c.(2182-2184)Ata>Tta	p.I728L	KCNH7_ENST00000332142.5_Intron	NM_173162.2	NP_775185.1	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	0					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTTTGGCTATCACTATAATG	0.418000													16	90					0	0	1	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679997	75679997	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:75679997C>A	ENST00000408868.1	+	0	84					NR_031714.1																						TATGCACTTTCCTGGAGGCTC	0.512000													4	55					0.014758	0.0150571	1	1	0
DHX58	79132	broad.mit.edu	37	17	40255747	40255747	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:40255747G>T	ENST00000251642.3	-	12	1855	c.1633C>A	c.(1633-1635)Cag>Aag	p.Q545K		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	545					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAACTGCTGCCGCTGGTTC	0.662000													13	47					9.31168e-06	1.05323e-05	1	1	0
CUTC	51076	broad.mit.edu	37	10	101503044	101503044	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:101503044G>T	ENST00000370476.5	+	4	457	c.328G>T	c.(328-330)Ggt>Tgt	p.G110C	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	110					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CAAGCTTTATGGTGCTGATGG	0.428000													23	94					6.44725e-10	8.23285e-10	1	1	0
AOX1	316	broad.mit.edu	37	2	201470324	201470324	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:201470324C>A	ENST00000374700.2	+	10	1121	c.880C>A	c.(880-882)Ctg>Atg	p.L294M		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	294	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AATTGAAGAACTGAGTGTTGT	0.343000													14	65					0.000219431	0.000236672	1	1	0
G6PC	2538	broad.mit.edu	37	17	41063082	41063082	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:41063082T>C	ENST00000253801.2	+	5	792	c.713T>C	c.(712-714)cTg>cCg	p.L238P	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	238					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTGTGGACTCTGGAGAAAGCC	0.532000													39	21					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747859	68747859	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:68747859C>G	ENST00000309106.3	-	1	596	c.597G>C	c.(595-597)ctG>ctC	p.L199L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	199						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAAAGAGGGTCAGGCTGGACA	0.592000													18	28					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605231	140605231	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140605231G>A	ENST00000239449.4	+	1	2154	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	PCDHB14_ENST00000515856.2_Silent_p.R565R	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		718					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAGCAGGGCGGCCTCGG	0.672000													33	123					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21119496	21119496	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:21119496C>A	ENST00000255882.6	-	21	2552	c.2466G>T	c.(2464-2466)ggG>ggT	p.G822G	PI4KA_ENST00000572273.1_Silent_p.G764G|PI4KA_ENST00000466162.1_5'UTR	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	764					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTTCACAGACCCCCTCGTACC	0.502000													52	124					1.21353e-23	1.90879e-23	1	1	0
SPATA8	145946	broad.mit.edu	37	15	97326909	97326909	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:97326909G>T	ENST00000328504.3	+	1	291	c.24G>T	c.(22-24)ggG>ggT	p.G8G	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	8										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGATGTCAGGGGCCCAGGACA	0.557000													17	28					5.26018e-13	7.28704e-13	1	1	0
MZT2B	80097	broad.mit.edu	37	2	130948089	130948089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:130948089G>T	ENST00000281871.6	+	3	722	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	MZT2B_ENST00000409255.1_Nonsense_Mutation_p.E183*	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	123						centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						GGCCCTGGCGGAACGCAGCAG	0.657000													16	19					1.15088e-07	1.34977e-07	1	1	0
TIPRL	261726	broad.mit.edu	37	1	168148409	168148409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:168148409G>T	ENST00000367833.2	+	1	239	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	TIPRL_ENST00000367830.3_Missense_Mutation_p.D32Y	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	32					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GAAGTCGGCGGATGTGGAGAA	0.652000													18	23					1.67942e-08	2.06172e-08	1	1	0
SLC17A3	10786	broad.mit.edu	37	6	25850032	25850032	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:25850032C>A	ENST00000397060.4	-	10	1381		c.e10+1		SLC17A3_ENST00000361703.6_Splice_Site|SLC17A3_ENST00000360657.3_Splice_Site	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGAGTCCTACCTTGGAGCAA	0.413000													14	83					1.5842e-08	1.95676e-08	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87150137	87150137	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:87150137T>A	ENST00000265724.3	-	23	3158	c.2741A>T	c.(2740-2742)cAg>cTg	p.Q914L	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q850L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	914	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCAAACTTCTGCTCCTGAGT	0.413000													26	52					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346913	29346913	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:29346913A>G	ENST00000558402.1	+	5	1425	c.826A>G	c.(826-828)Agg>Ggg	p.R276G	APBA2_ENST00000558330.1_Missense_Mutation_p.R276G|APBA2_ENST00000558259.1_Missense_Mutation_p.R276G|APBA2_ENST00000411764.1_Missense_Mutation_p.R276G|APBA2_ENST00000561069.1_Missense_Mutation_p.R276G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	276					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAGCCCCAGCAGGCACGAGGC	0.677000													5	16					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164564	139164564	+	Silent	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:139164564A>G	ENST00000395297.1	-	13	2324	c.2154T>C	c.(2152-2154)gtT>gtC	p.V718V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	718										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATGTCTTCGAACAAACGGGT	0.562000										HNSCC(54;0.14)			22	38					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115584235	115584235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:115584235G>A	ENST00000371900.4	+	9	1301	c.1213G>A	c.(1213-1215)Ggt>Agt	p.G405S		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	405					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACTCCCAGGTGGTCCATTTTG	0.363000													19	29					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101374870	101374870	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:101374870T>C	ENST00000344327.3	-	2	1254	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	TRPC6_ENST00000360497.4_Missense_Mutation_p.Y277C|TRPC6_ENST00000532133.1_Missense_Mutation_p.Y277C|TRPC6_ENST00000348423.4_Missense_Mutation_p.Y277C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	277					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAGGCCTTTATAGGCATTAAT	0.448000													23	180					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144464083	144464083	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:144464083C>T	ENST00000289013.6	+	14	1843	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	606	PDZ.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCGGGAGAGGCGGGCGCCAGC	0.672000													3	19					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913130	143913130	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:143913130T>A	ENST00000409869.1	+	3	248	c.71T>A	c.(70-72)gTg>gAg	p.V24E	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.V24E			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	24					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACAGGAGCTGTGCAAATGAGA	0.423000													22	30					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587496	70587496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:70587496G>T	ENST00000310961.5	+	27	4832	c.4414G>T	c.(4414-4416)Gaa>Taa	p.E1472*	LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E798*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.E1514*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1514	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATGGAACATGAAAAAGCTGT	0.318000													36	60					3.76114e-14	5.3202e-14	1	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51656387	51656387	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:51656387G>A	ENST00000317643.6	+	7	1358	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	SIGLEC7_ENST00000600577.1_3'UTR|CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G337E	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	430					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CACTCCTCAGGGGAGGAAAGA	0.542000													53	109					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355344	31355344	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:31355344C>T	ENST00000542188.1	-	7	1306	c.993G>A	c.(991-993)gcG>gcA	p.A331A	TRPM1_ENST00000397795.2_Silent_p.A292A|TRPM1_ENST00000256552.6_Silent_p.A314A	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	292					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTACTTGTGCGCAAAGGACA	0.547000													15	41					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13041496	13041496	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:13041496C>G	ENST00000588025.1	-	3	475	c.335G>C	c.(334-336)cGg>cCg	p.R112P	FARSA_ENST00000314606.4_Missense_Mutation_p.R72P|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.R72P			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	72					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GCTGCCCTCCCGGGCAATCTC	0.627000													4	29					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074344	54074344	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:54074344C>A	ENST00000373970.3	+	1	289	c.150C>A	c.(148-150)ggC>ggA	p.G50G		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	50					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CACCGCTGGGCGGCGCTGCGG	0.647000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0.00010058	0.000109263	1	1	0
DSG3	1830	broad.mit.edu	37	18	29039000	29039000	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr18:29039000C>A	ENST00000257189.4	+	5	460	c.377C>A	c.(376-378)aCa>aAa	p.T126K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	126	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.T126K(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCTAGATCACATGTCGGGCT	0.363000													31	32					2.70662e-09	3.39875e-09	1	1	0
LCE3B	353143	broad.mit.edu	37	1	152586355	152586355	+	Silent	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:152586355A>G	ENST00000335633.1	+	1	69	c.69A>G	c.(67-69)ccA>ccG	p.P23P		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	23	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGTGCCCCCCAAAGAGCTCAG	0.632000													39	43					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4810267	4810267	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:4810267A>T	ENST00000354582.6	+	45	6103	c.5753A>T	c.(5752-5754)aAa>aTa	p.K1918I	ITPR1_ENST00000443694.2_Missense_Mutation_p.K1918I|ITPR1_ENST00000302640.8_Missense_Mutation_p.K1918I|ITPR1_ENST00000357086.4_Missense_Mutation_p.K1885I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.K1870I|ITPR1_ENST00000423119.2_Missense_Mutation_p.K1885I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1933					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCACCAGGAAAGCCTTCACC	0.587000													8	77					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033808	228033808	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:228033808A>G	ENST00000366757.3	+	5	904	c.880A>G	c.(880-882)Atc>Gtc	p.I294V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	294					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TAACATAGAAATCACGCCCAC	0.557000													15	62					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32949131	32949131	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:32949131T>C	ENST00000340811.4	-	11	2377	c.2269A>G	c.(2269-2271)Aac>Gac	p.N757D	PKP2_ENST00000070846.6_Missense_Mutation_p.N801D	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	801					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGATTATGTTGTTCAATGTG	0.458000													22	49					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177143571	177143571	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:177143571C>A	ENST00000296525.3	-	3	390	c.276_splice	c.e3-1	p.G93_splice	ASB5_ENST00000512254.1_Splice_Site_p.G40_splice|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	93					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACATTATAACCCTAAATGTGG	0.398000													4	46					0.014758	0.0150571	1	1	0
TMCO3	55002	broad.mit.edu	37	13	114150319	114150319	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr13:114150319C>T	ENST00000434316.2	+	2	782	c.423C>T	c.(421-423)gcC>gcT	p.A141A	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.A141A	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	141						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCCTGGAGGCCCTGAGAGAGG	0.567000													6	9					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322092	52322092	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:52322092G>T	ENST00000356297.4	-	17	2192	c.2092C>A	c.(2092-2094)Cgc>Agc	p.R698S	PXDNL_ENST00000543296.1_Missense_Mutation_p.R698S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	698					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGAGGGAGCGCGGGGACACC	0.607000													7	27					1.12685e-05	1.26744e-05	1	1	0
LALBA	3906	broad.mit.edu	37	12	48962359	48962359	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:48962359G>A	ENST00000549817.1	-	3	354	c.309C>T	c.(307-309)gaC>gaT	p.D103D	LALBA_ENST00000301046.2_Silent_p.D103D			P00709	LALBA_HUMAN	lactalbumin, alpha-	103					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CATCAGTAATGTCATCATCCA	0.433000													16	94					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18731233	18731233	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:18731233C>A	ENST00000600490.1	+	9	1101	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	TMEM59L_ENST00000262817.3_Missense_Mutation_p.Q306K			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	306						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GACCCTGGAGCAGCACAAGGG	0.642000													5	28					0.184627	0.185241	1	1	0
TRPM4	54795	broad.mit.edu	37	19	49671869	49671869	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:49671869C>T	ENST00000252826.5	+	6	798	c.672C>T	c.(670-672)ccC>ccT	p.P224P	TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Silent_p.P224P	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	224					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCCAGTTTCCCCTGGACTACA	0.652000													12	32					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)			36	40					2.75727e-19	4.17392e-19	1	1	0
CLEC4G	339390	broad.mit.edu	37	19	7794707	7794707	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:7794707C>T	ENST00000328853.5	-	8	811	c.743_splice	c.e8+1	p.S248_splice		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	248	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TTTCCCTCACCTGAAGCTGAG	0.622000													24	21					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9459603	9459603	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:9459603C>A	ENST00000378501.2	+	36	3547	c.3532C>A	c.(3532-3534)Cga>Aga	p.R1178R	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.A1177A|PLCB4_ENST00000378493.1_Silent_p.A1165A|PLCB4_ENST00000414679.2_Silent_p.A1177A|PLCB4_ENST00000334005.3_Silent_p.R1178R|PLCB4_ENST00000278655.4_Silent_p.A1165A	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATTGGAAGCCGAGATGGACC	0.443000													6	24					8.12818e-05	8.8778e-05	1	1	0
ZNF10	7556	broad.mit.edu	37	12	133732504	133732504	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:133732504C>T	ENST00000248211.6	+	5	894	c.672C>T	c.(670-672)caC>caT	p.H224H	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Silent_p.H224H|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	224				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAAACATTCACCTTATTCAGT	0.348000													11	50					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94046493	94046493	+	Splice_Site	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:94046493A>T	ENST00000553484.1	+	19	2587		c.e19-1		UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATGTCTTTCAGATGGAGTTA	0.398000													25	31					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174781	150174781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:150174781G>T	ENST00000307271.3	+	5	2485	c.1911G>T	c.(1909-1911)caG>caT	p.Q637H		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	637						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCCATACACAGGAGAACGTCA	0.423000													32	76					4.66903e-05	5.15556e-05	1	1	0
CATSPER3	347732	broad.mit.edu	37	5	134345148	134345148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:134345148C>T	ENST00000282611.6	+	6	990	c.904C>T	c.(904-906)Cag>Tag	p.Q302*		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	302					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCGGCAGCAGGAGGAGAT	0.562000													12	63					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51005287	51005287	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:51005287T>C	ENST00000396153.2	-	14	1833	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S	FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.N461S|FAF1_ENST00000545823.1_Missense_Mutation_p.N219S	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	461					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CAACACTTCATTAGATGATCG	0.398000													9	33					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466763	51466763	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:51466763C>A	ENST00000376851.3	-	4	679	c.240G>T	c.(238-240)agG>agT	p.R80S	KLK6_ENST00000594641.1_Missense_Mutation_p.R80S|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000424910.2_Missense_Mutation_p.G28V|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R80S	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	80	Peptidase S1.	Cleavage; by autolysis.			amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGGAACTCTCCCTTTGCCGAA	0.582000													4	57					1.76689e-08	2.15162e-08	1	1	0
GPR112	139378	broad.mit.edu	37	X	135405179	135405179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:135405179G>T	ENST00000394143.1	+	5	604	c.313G>T	c.(313-315)Gga>Tga	p.G105*	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.G105*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.G42*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	105					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATACAGATTGGGAAAGACCTT	0.438000													70	44					5.61366e-43	9.41847e-43	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86377098	86377098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:86377098C>A	ENST00000370571.2	-	25	2947	c.2581G>T	c.(2581-2583)Gga>Tga	p.G861*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.G861*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	861	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAACTTCTCCAGGTAAGCCA	0.343000													37	70					9.88483e-10	1.25429e-09	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	39					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333962	220333962	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:220333962G>T	ENST00000312358.7	+	13	3708	c.3576G>T	c.(3574-3576)cgG>cgT	p.R1192R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1192	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACTTCCTGCGGCCACTGCAGG	0.627000													9	24					0.000274275	0.000293727	1	1	0
KLHL22	84861	broad.mit.edu	37	22	20819800	20819800	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr22:20819800G>C	ENST00000328879.4	-	4	613	c.457C>G	c.(457-459)Ctc>Gtc	p.L153V	KLHL22_ENST00000440659.2_Missense_Mutation_p.L10V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	153					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TAGACATCGAGAATGTTCTCT	0.502000													36	60					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145725977	145725977	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:145725977C>A	ENST00000292539.4	+	7	1730	c.813C>A	c.(811-813)gcC>gcA	p.A271A	PPP1R16A_ENST00000435887.1_Silent_p.A271A			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	271						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCTGCACGCCGCGGCCTACT	0.721000													10	15					2.80697e-09	3.51017e-09	1	1	0
PDGFRB	5159	broad.mit.edu	37	5	149505025	149505025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:149505025C>A	ENST00000261799.4	-	12	2259	c.1790G>T	c.(1789-1791)cGg>cTg	p.R597L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	597					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.R597Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGCTGGTCCCGCGGCAGCTC	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								6	35					0.00116845	0.00123166	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10602767	10602767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:10602767C>A	ENST00000171111.5	-	3	1358	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	KEAP1_ENST00000393623.2_Missense_Mutation_p.V271L|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	271	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGCAGCGCACGGCCCGCAGC	0.617000													24	25					1.1804e-14	1.68151e-14	1	1	0
FAT1	2195	broad.mit.edu	37	4	187525712	187525712	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:187525712C>A	ENST00000441802.2	-	18	10576	c.10367G>T	c.(10366-10368)gGc>gTc	p.G3456V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3456	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACGCTGAAGCCCACTGGCTT	0.398000										HNSCC(5;0.00058)			4	15					0.00909568	0.0093911	1	1	0
TM2D3	80213	broad.mit.edu	37	15	102191914	102191914	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:102191914C>A	ENST00000333202.3	-	2	159	c.154G>T	c.(154-156)Gtt>Ttt	p.V52F	TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.V52F	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	52						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCTGGGAACTACTGTGAAT	0.388000													24	110					3.01185e-09	3.75084e-09	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40790168	40790168	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:40790168C>A	ENST00000373198.3	-	18	2807	c.2572G>T	c.(2572-2574)Ggg>Tgg	p.G858W	PTPRT_ENST00000356100.2_Missense_Mutation_p.G845W|PTPRT_ENST00000373201.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373187.1_Missense_Mutation_p.G836W|PTPRT_ENST00000373193.3_Missense_Mutation_p.G839W|PTPRT_ENST00000373184.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373190.1_Missense_Mutation_p.G835W	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	836					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S856fs*21(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAAAGCTCCCCGCGGCTGCCA	0.592000													25	55					7.87624e-14	1.11151e-13	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98744862	98744862	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:98744862C>A	ENST00000477737.1	+	6	1067	c.863C>A	c.(862-864)aCc>aAc	p.T288N	VWA3B_ENST00000435344.1_Missense_Mutation_p.T288N|VWA3B_ENST00000451075.2_Missense_Mutation_p.T138N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	288										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGTGCCAAGACCCACAGCAGG	0.522000													21	30					3.62473e-10	4.65817e-10	1	1	0
COPA	1314	broad.mit.edu	37	1	160283840	160283840	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:160283840T>A	ENST00000241704.7	-	9	1011	c.782A>T	c.(781-783)cAa>cTa	p.Q261L	COPA_ENST00000368069.3_Missense_Mutation_p.Q261L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	261					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATCAACTCTTGGCGAGGGTG	0.463000													30	29					0	0	1	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612708	228612708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:228612708C>T	ENST00000366696.1	-	1	318	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	107					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGGTTGGTGTCCTCAAACAGC	0.617000													15	77					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26446316	26446316	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:26446316G>C	ENST00000265944.5	+	26	3037	c.2871G>C	c.(2869-2871)gaG>gaC	p.E957D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	957	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAATAGTGAGCGTCAGGCAA	0.398000													19	46					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573272	57573272	+	Silent	SNP	C	C	T	rs141892093	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:57573272C>T	ENST00000243077.3	+	29	5365	c.4899C>T	c.(4897-4899)gaC>gaT	p.D1633D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1633					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTGGTCTGACGTGCGGACAC	0.592000													18	46					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48232097	48232097	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:48232097C>T	ENST00000394747.1	-	15	2521	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G	ABCC11_ENST00000356608.2_Silent_p.G724G|ABCC11_ENST00000353782.5_Silent_p.G724G|ABCC11_ENST00000394748.1_Silent_p.G724G|ABCC11_ENST00000537808.1_Silent_p.G724G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	724	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGCATATTTCCCCTTTTTCT	0.473000													36	38					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725670	12725670	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:12725670T>A	ENST00000380682.1	+	13	1876	c.1370T>A	c.(1369-1371)cTg>cAg	p.L457Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	457	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAACCAATCTGGTGGCTCTT	0.512000													46	34					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827787	1827787	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:1827787A>G	ENST00000170168.4	-	2	1095	c.1001T>C	c.(1000-1002)cTg>cCg	p.L334P	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	334						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTCCCGCAGGCCGCCCCC	0.726000													6	4					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1471285	1471285	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:1471285G>A	ENST00000331035.4	+	6	851	c.502G>A	c.(502-504)Gat>Aat	p.D168N	IL3RA_ENST00000381469.2_Missense_Mutation_p.D90N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	168						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGTCGTTTCGATGACATCTC	0.557000													68	79					0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139225158	139225158	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:139225158A>T	ENST00000422142.2	+	3	429	c.357A>T	c.(355-357)agA>agT	p.R119S		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	119	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					AGGAACCCAGAGACTGGAACA	0.602000													4	11					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812830	141812830	+	Splice_Site	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:141812830T>A	ENST00000389484.3	-	10	2380		c.e10-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.?(1)		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)		GGCTTCTGACTACAACAAATA	0.398000										TSP Lung(27;0.18)			14	35					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192973578	192973578	+	Splice_Site	SNP	G	G	T	rs149064282	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:192973578G>T	ENST00000264735.2	+	2	548	c.454_splice	c.e2+1	p.D152_splice	HRASLS_ENST00000602513.1_Splice_Site_p.D47_splice	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	47										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		AGCACCTGTAGGTGAGGTTTA	0.448000													54	57					3.73128e-16	5.43059e-16	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30318686	30318686	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:30318686G>T	ENST00000375377.1	-	3	492	c.391C>A	c.(391-393)Cac>Aac	p.H131N		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	131										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGTTTTCGTGCTCCCTCGGC	0.607000													27	112					7.92952e-12	1.06196e-11	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46332379	46332379	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:46332379C>T	ENST00000245934.7	-	14	2078	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	612					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGCCCGCACATCCTCCAGG	0.637000													37	51					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905851	57905851	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:57905851C>G	ENST00000262644.4	-	1	552	c.294G>C	c.(292-294)acG>acC	p.T98T		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	98						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CTCCCTCGCGCGTCTTCCCCT	0.657000													11	18					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997430	144997430	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:144997430G>A	ENST00000322810.4	-	31	7247	c.7078C>T	c.(7078-7080)Cgc>Tgc	p.R2360C	PLEC_ENST00000354958.2_Missense_Mutation_p.R2201C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2209C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2250C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2227C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2223C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2246C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2223C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2191C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2360	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTGGCTGCGCTGGCGTGCG	0.652000													5	32					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108057231	108057231	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:108057231G>A	ENST00000278612.8	-	8	809	c.704C>T	c.(703-705)cCa>cTa	p.P235L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	235	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAAAGCGTTTGGATCTTGGAA	0.328000													29	44					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48801538	48801538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:48801538C>A	ENST00000315396.7	-	11	1871	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	397										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCTTGACCCCAAGGAGGTCA	0.602000													12	71					0.00010058	0.000109263	1	1	0
C11orf84	144097	broad.mit.edu	37	11	63594606	63594606	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:63594606G>T	ENST00000294244.4	+	6	1440	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	381										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGGAATGGAGTGTAAATTCT	0.587000													19	21					5.35267e-07	6.20539e-07	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45784046	45784046	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr21:45784046G>T	ENST00000397928.1	+	3	749	c.304G>T	c.(304-306)Gct>Tct	p.A102S	TRPM2_ENST00000300481.9_Missense_Mutation_p.A102S|TRPM2_ENST00000300482.5_Missense_Mutation_p.A102S|TRPM2_ENST00000397932.2_Missense_Mutation_p.A102S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	102						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTTGGAGGAGGCTACCAAGCC	0.587000													4	45					0.00909568	0.0093911	1	1	0
MIR520H	574493	broad.mit.edu	37	19	54245850	54245850	+	RNA	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr19:54245850G>C	ENST00000385126.1	+	0	85					NR_030215.1																						GTTACTGTTTGGGAAAAGCAG	0.403000													13	47					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029263	32029263	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr6:32029263C>A	ENST00000375244.3	-	21	7604	c.7403G>T	c.(7402-7404)gGc>gTc	p.G2468V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2468V			P22105	TENX_HUMAN	tenascin XB	2528					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						AGGCTCCAGGCCCCCCACGGT	0.687000													59	43					3.53049e-34	5.82627e-34	1	1	0
PDE6B	5158	broad.mit.edu	37	4	647648	647648	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:647648T>A	ENST00000429163.2	+	0	148				RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.L240Q|PDE6B_ENST00000255622.6_Missense_Mutation_p.L240Q	NM_001145292.1	NP_001138764.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta						cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGGTGCTGCTGTGGTCGGCC	0.622000													3	44					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103432	53103432	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:53103432T>C	ENST00000408890.4	+	1	84	c.68T>C	c.(67-69)cTg>cCg	p.L23P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	23								p.L23R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GAACCCCTGCTGCAAGGCCCC	0.711000													9	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237780595	237780595	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:237780595C>A	ENST00000366574.2	+	38	6042	c.5725C>A	c.(5725-5727)Ctg>Atg	p.L1909M	RYR2_ENST00000542537.1_Missense_Mutation_p.L1893M|RYR2_ENST00000360064.6_Missense_Mutation_p.L1907M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1909	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTGCCTACTGCTTCAGTA	0.388000													3	23					0.004672	0.00487373	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219895442	219895442	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:219895442T>A	ENST00000341552.5	-	9	1213	c.1130A>T	c.(1129-1131)gAg>gTg	p.E377V	CCDC108_ENST00000453220.1_Missense_Mutation_p.E377V|CCDC108_ENST00000410037.1_Missense_Mutation_p.E312V|CCDC108_ENST00000441968.1_Missense_Mutation_p.E377V|CCDC108_ENST00000409865.3_Missense_Mutation_p.E366V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	377						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCTGCCTCTCCGAGGTGCA	0.602000													13	43					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379409	220379409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:220379409G>C	ENST00000358078.4	+	1	358	c.344G>C	c.(343-345)gGc>gCc	p.G115A	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Missense_Mutation_p.G115A			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	115						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GAGGGACAGGGCAGGGAGGCT	0.612000													5	33					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992542	19992542	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:19992542G>T	ENST00000289753.1	+	1	763	c.296G>T	c.(295-297)tGc>tTc	p.C99F		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	99					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGCGGCCTCTGCCTGCTCTGG	0.667000													20	43					1.56452e-12	2.12832e-12	1	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22446888	22446888	+	RNA	SNP	C	C	T	rs2075483	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr14:22446888C>T	ENST00000390443.3	+	0	190																											CCGCCCAGCTCAAGGTCCTGC	0.532000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	84					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933226	83933226	+	Silent	SNP	T	T	C	rs138172246		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:83933226T>C	ENST00000345382.2	-	4	862	c.777A>G	c.(775-777)tcA>tcG	p.S259S	BNC1_ENST00000569704.1_Silent_p.S252S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	259					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTCGGGCAATGACCCTATCA	0.502000													15	66					0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594069	9594069	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:9594069C>A	ENST00000287585.6	-	2	580	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	99						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GAGAGCAGCACGAAGAAGGCG	0.632000													17	34					3.52763e-06	4.02017e-06	1	1	0
SORL1	6653	broad.mit.edu	37	11	121489536	121489536	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:121489536G>T	ENST00000260197.7	+	42	5787	c.5658G>T	c.(5656-5658)aaG>aaT	p.K1886N	SORL1_ENST00000532694.1_Missense_Mutation_p.K732N|SORL1_ENST00000525532.1_Missense_Mutation_p.K830N|SORL1_ENST00000527934.1_Missense_Mutation_p.K501N|SORL1_ENST00000534286.1_Missense_Mutation_p.K796N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1886	Fibronectin type-III 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCAACCCGAAGAGCTTGACTA	0.443000													116	141					9.06123e-46	1.52877e-45	1	1	0
CEP70	80321	broad.mit.edu	37	3	138244343	138244343	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:138244343C>T	ENST00000264982.3	-	11	1199	c.933G>A	c.(931-933)aaG>aaA	p.K311K	CEP70_ENST00000542237.1_Silent_p.K291K|CEP70_ENST00000489254.1_Silent_p.K159K|CEP70_ENST00000484888.1_Silent_p.K311K|CEP70_ENST00000481834.1_Silent_p.K311K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	311					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TGACGTTTTTCTTAAGGGCTT	0.229000													7	42					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940853	144940853	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:144940853G>C	ENST00000525985.1	-	2	6640	c.6569C>G	c.(6568-6570)gCc>gGc	p.A2190G				P58107	EPIPL_HUMAN	epiplakin 1	2190						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGATTATGGCTGAGCTGAG	0.542000													26	287					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139753	50139753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:50139753G>A	ENST00000371564.3	-	2	1246	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	NFATC2_ENST00000396009.3_Missense_Mutation_p.R343C|NFATC2_ENST00000414705.1_Missense_Mutation_p.R323C	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	343					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TAGATGTGGCGAGGCAGGCCG	0.682000													44	75					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418879	178418879	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:178418879G>A	ENST00000231188.5	-	2	888	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GRM6_ENST00000517717.1_Missense_Mutation_p.S237F	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	237					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AGCCTCTCGGGAGATCTGAAC	0.622000													9	31					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320915	27320915	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:27320915C>T	ENST00000407991.1	-	6	1653	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.V334M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.V349M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	349						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACATTGAGCACGAAGACGGTG	0.627000													14	80					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065337	55065337	+	RNA	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:55065337G>T	ENST00000526016.1	-	0	371					NR_038174.2																						TCACTTACCCGGCGTTCCTCA	0.483000													9	33					5.68852e-11	7.48555e-11	1	1	0
GLDN	342035	broad.mit.edu	37	15	51689763	51689763	+	Missense_Mutation	SNP	G	G	T	rs143383924	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:51689763G>T	ENST00000335449.6	+	6	841	c.785G>T	c.(784-786)cGg>cTg	p.R262L	GLDN_ENST00000396399.2_Missense_Mutation_p.R138L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	262	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AAAGGCCCTCGGCAGCCAAGC	0.642000													5	29					0.014758	0.0150571	1	1	0
EFHB	151651	broad.mit.edu	37	3	19975305	19975305	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:19975305C>A	ENST00000295824.9	-	1	367	c.206G>T	c.(205-207)gGg>gTg	p.G69V	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	69					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CATTTCAAGCCCCTTGCTCAA	0.458000													34	79					1.62565e-12	2.2065e-12	1	1	0
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr13:48947629G>T	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	53					1.04121e-07	1.23554e-07	1	1	0
TENM3	55714	broad.mit.edu	37	4	183714045	183714045	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr4:183714045G>T	ENST00000511685.1	+	26	6343	c.6220G>T	c.(6220-6222)Gta>Tta	p.V2074L	TENM3_ENST00000406950.2_Missense_Mutation_p.V2074L					teneurin transmembrane protein 3																		TTCTACAGCTGTAATGACCTA	0.358000													18	25					1.02788e-11	1.37051e-11	1	1	0
FZD1	8321	broad.mit.edu	37	7	90895895	90895895	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:90895895G>T	ENST00000287934.2	+	1	2113	c.1700G>T	c.(1699-1701)cGc>cTc	p.R567L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	567					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGTGGGAACGCAGCTGGGTG	0.667000													16	33					1.15088e-07	1.34977e-07	1	1	0
ZNF569	148266	broad.mit.edu	37	19	37904008	37904008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:37904008C>A	ENST00000316950.6	-	6	2109	c.1552G>T	c.(1552-1554)Gga>Tga	p.G518*	ZNF569_ENST00000392149.2_Nonsense_Mutation_p.G518*|ZNF569_ENST00000392150.2_Nonsense_Mutation_p.G359*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTTTCTCTCCAGTATGAACT	0.368000													41	71					1.30998e-17	1.97152e-17	1	1	0
ZNF638	27332	broad.mit.edu	37	2	71633387	71633387	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:71633387A>T	ENST00000409544.1	+	19	3760	c.3130A>T	c.(3130-3132)Aac>Tac	p.N1044Y	ZNF638_ENST00000355812.3_Missense_Mutation_p.N1044Y|ZNF638_ENST00000264447.4_Missense_Mutation_p.N1044Y	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1044					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGTAATAGAAACAAGGTAAC	0.353000													8	52					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21894003	21894003	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:21894003G>C	ENST00000328843.6	+	69	11184	c.11153G>C	c.(11152-11154)aGa>aCa	p.R3718T	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3711T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3718					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGCAGCAAGAGCATCTCTT	0.378000									Kartagener syndrome				14	23					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167308	64167308	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:64167308T>C	ENST00000395391.1	+	4	2001	c.626T>C	c.(625-627)aTt>aCt	p.I209T	ZNF107_ENST00000423627.1_Missense_Mutation_p.I209T|ZNF107_ENST00000344930.3_Missense_Mutation_p.I209T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATAAAATAATTCATACTGGA	0.373000													4	64					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569468	142569468	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:142569468G>C	ENST00000359396.3	-	15	2415	c.2170C>G	c.(2170-2172)Cag>Gag	p.Q724E		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	724					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGTCAGATCTGATATTCCCAG	0.522000													15	53					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177143572	177143572	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:177143572C>A	ENST00000296525.3	-	3	390		c.e3-1		ASB5_ENST00000512254.1_Splice_Site|ASB5_ENST00000511879.1_Splice_Site	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5						intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CATTATAACCCTAAATGTGGC	0.393000													4	45					0.014758	0.0150327	1	1	0
PCDHB11	56125	broad.mit.edu	37	5	140579376	140579376	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140579376A>G	ENST00000354757.3	+	1	29	c.29A>G	c.(28-30)cAg>cGg	p.Q10R	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		10					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q10L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACTCAGCAGATAAGGCAA	0.507000													18	39					0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48292536	48292536	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:48292536A>G	ENST00000285737.4	+	4	701	c.608A>G	c.(607-609)gAt>gGt	p.D203G	LONP2_ENST00000535754.1_Missense_Mutation_p.D159G	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	203	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGATTTTAGATGCTGTGAGC	0.398000													15	29					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621413	76621413	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:76621413G>T	ENST00000264917.5	+	3	494	c.449G>T	c.(448-450)tGg>tTg	p.W150L	PDE8B_ENST00000333194.4_Missense_Mutation_p.W150L|PDE8B_ENST00000342343.4_Missense_Mutation_p.W130L|PDE8B_ENST00000346042.3_Missense_Mutation_p.W150L|PDE8B_ENST00000340978.3_Missense_Mutation_p.W150L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	150					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGCTTCTGGTGGGCCTGCGAC	0.413000													19	101					1.33834e-09	1.68552e-09	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97717496	97717496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:97717496G>T	ENST00000375315.2	+	7	1699	c.1699G>T	c.(1699-1701)Gga>Tga	p.G567*	C9orf3_ENST00000297979.5_Nonsense_Mutation_p.G468*	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	567					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAGTGACTCGGGAGCATCTGT	0.373000													17	25					1.67942e-08	2.06328e-08	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113249468	113249468	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:113249468C>A	ENST00000297405.5	-	67	10822	c.10578G>T	c.(10576-10578)ggG>ggT	p.G3526G	CSMD3_ENST00000352409.3_Silent_p.G3456G|CSMD3_ENST00000343508.3_Silent_p.G3486G|CSMD3_ENST00000455883.2_Silent_p.G3357G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3526						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGTTAACTCTCCCAGTGGAAG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			35	99					8.73648e-17	1.28906e-16	1	1	0
DMBX1	127343	broad.mit.edu	37	1	46977961	46977961	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:46977961T>A	ENST00000371956.4	+	4	959	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	DMBX1_ENST00000360032.3_Missense_Mutation_p.L310Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	315					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTGGGCTCACTGCACTGCCAG	0.682000													22	39					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75706659	75706659	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:75706659C>G	ENST00000409445.3	-	8	881	c.685G>C	c.(685-687)Gca>Cca	p.A229P	CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.A179P	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	229							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ACTTGCTCTGCAACAATCTGT	0.343000													18	33					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943569	98943569	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:98943569G>T	ENST00000254898.5	+	3	762	c.531G>T	c.(529-531)gtG>gtT	p.V177V	MATN2_ENST00000520016.1_Silent_p.V177V|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Silent_p.V177V|MATN2_ENST00000521689.1_Silent_p.V177V	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	177	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGGACTCCGTGGCCGAGGTGG	0.577000													11	37					4.68919e-08	5.62329e-08	1	1	0
FAM175A	84142	broad.mit.edu	37	4	84393381	84393381	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:84393381G>A	ENST00000321945.7	-	4	384	c.276C>T	c.(274-276)gtC>gtT	p.V92V	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Silent_p.V43V	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	92	MPN-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ATACCTTTTTGACATTTGATA	0.284000													4	0					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706075	30706075	+	Silent	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:30706075A>G	ENST00000256246.2	-	1	533	c.459T>C	c.(457-459)ggT>ggC	p.G153G		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	153										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGAAAAATTACCTTGGTCCT	0.453000													39	92					0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37367788	37367788	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:37367788A>T	ENST00000529555.1	+	2	844	c.56A>T	c.(55-57)gAa>gTa	p.E19V	ZNF345_ENST00000420450.1_Missense_Mutation_p.E19V|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E19V|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	19					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.E19G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGATTGGGAATGTAAAAAC	0.368000													42	81					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819926	50819926	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:50819926C>T	ENST00000374115.3	+	1	1580	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	380					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.F380F(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCGCTCCTTCGCGCCGCTAG	0.677000													7	25					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726726	63726726	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:63726726C>A	ENST00000421025.1	+	5	984	c.715C>A	c.(715-717)Ccc>Acc	p.P239T	ZNF679_ENST00000255746.4_Missense_Mutation_p.P239T	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGGAGAGAAACCCTACAGATG	0.408000													8	31					5.18039e-06	5.89527e-06	1	1	0
CLEC6A	93978	broad.mit.edu	37	12	8628779	8628779	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:8628779C>A	ENST00000382073.3	+	5	614	c.428C>A	c.(427-429)cCa>cAa	p.P143Q		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	143	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ctttcagacccacaaggtaat	0.383000													16	86					1.99824e-07	2.33128e-07	1	1	0
NCDN	23154	broad.mit.edu	37	1	36026118	36026118	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:36026118C>A	ENST00000373243.2	+	3	749	c.366C>A	c.(364-366)gcC>gcA	p.A122A	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.A122A|NCDN_ENST00000373253.3_Silent_p.A105A	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	122					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACTGGCCGCCCATCCCCAAG	0.627000													33	165					8.4185e-14	1.18134e-13	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554325	20554325	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:20554325C>T	ENST00000329697.6	-	12	1588	c.1420G>A	c.(1420-1422)Gga>Aga	p.G474R	ACSM2B_ENST00000565232.1_Missense_Mutation_p.G474R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G395R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G474R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	474					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCCGAGGGTCCAATCCGGTAC	0.567000													9	105					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508475	144508475	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:144508475G>A	ENST00000367568.4	+	2	894	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	237	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TGGTGGAGAAGCAGGCCGACA	0.632000									Familial Hemophagocytic Lymphohistiocytosis				24	10					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94046494	94046494	+	Splice_Site	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:94046494G>A	ENST00000553484.1	+	19	2587		c.e19-1		UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGTCTTTCAGATGGAGTTAC	0.398000													25	31					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559860	33559860	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:33559860A>T	ENST00000228567.3	-	3	1237	c.941T>A	c.(940-942)cTa>cAa	p.L314Q	SYT10_ENST00000535526.1_Missense_Mutation_p.L133Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	314	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACTGAAATGTAGTTTTCGGTT	0.358000													31	51					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102376422	102376422	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:102376422C>A	ENST00000369138.1	+	13	2490	c.2000C>A	c.(1999-2001)cCt>cAt	p.P667H	GRIK2_ENST00000421544.1_Missense_Mutation_p.P667H|GRIK2_ENST00000318991.6_Missense_Mutation_p.P667H|GRIK2_ENST00000413795.1_Missense_Mutation_p.P667H|GRIK2_ENST00000369134.4_Missense_Mutation_p.P618H|GRIK2_ENST00000369137.3_Missense_Mutation_p.P591H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	667					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	atggaatcccctattgactct	0.423000													37	28					4.65686e-17	6.93919e-17	1	1	0
AFP	174	broad.mit.edu	37	4	74308073	74308073	+	Nonsense_Mutation	SNP	G	G	A	rs121912685		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:74308073G>A	ENST00000395792.2	+	5	643	c.543G>A	c.(541-543)tgG>tgA	p.W181*	AFP_ENST00000226359.2_Nonsense_Mutation_p.W181*	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	181	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTCTTTGGGCTGCTCGCT	0.373000									Alpha-Fetoprotein, Hereditary Persistence of				15	51					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483287	56483287	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:56483287T>C	ENST00000370765.6	-	23	5652	c.5545A>G	c.(5545-5547)Atg>Gtg	p.M1849V	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1264					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTGGTCCATTTTTTGCTTC	0.408000													23	103					0	0	1	0	0
C6orf106	64771	broad.mit.edu	37	6	34614531	34614531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:34614531C>A	ENST00000374023.3	-	3	601	c.358G>T	c.(358-360)Gga>Tga	p.G120*	C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Nonsense_Mutation_p.G46*	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	120										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AATTGGTCTCCCCCGACATAT	0.517000													83	105					2.00703e-41	3.35619e-41	1	1	0
MUC2	4583	broad.mit.edu	37	11	1099771	1099771	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:1099771G>T	ENST00000441003.2	+	40	7395	c.7368G>T	c.(7366-7368)gtG>gtT	p.V2456V		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4818						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TAGGCTGTGTGGGACCTGACA	0.572000													26	40					2.44723e-14	3.47461e-14	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113276039	113276039	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:113276039C>A	ENST00000297405.5	-	61	9935	c.9691G>T	c.(9691-9693)Gtt>Ttt	p.V3231F	CSMD3_ENST00000352409.3_Missense_Mutation_p.V3161F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3191F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V3062F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3231	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGCAGGTAACAGCTGCAATT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	44					1.67942e-08	2.06328e-08	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44929567	44929567	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:44929567A>G	ENST00000377967.4	+	17	2708	c.2667A>G	c.(2665-2667)atA>atG	p.I889M	KDM6A_ENST00000543216.1_Missense_Mutation_p.I810M|KDM6A_ENST00000536777.1_Missense_Mutation_p.I844M|KDM6A_ENST00000382899.4_Missense_Mutation_p.I896M	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	889					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTGTGTCCATATACCCCAGCT	0.438000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								14	6					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100779054	100779054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:100779054G>T	ENST00000223095.4	+	7	1216	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D	SERPINE1_ENST00000445463.2_Missense_Mutation_p.E338D	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	353					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGTGAACGAGAGTGGCACGG	0.592000													9	38					1.12685e-05	1.27034e-05	1	1	0
KDM2A	22992	broad.mit.edu	37	11	67020928	67020928	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:67020928G>A	ENST00000529006.2	+	19	3383	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	KDM2A_ENST00000530342.1_Silent_p.L540L|KDM2A_ENST00000308783.5_Silent_p.L437L|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTGCAGGACTGAAAGACCTCC	0.517000													63	126					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073595	134073595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:134073595G>T	ENST00000264360.4	+	1	3126	c.2300G>T	c.(2299-2301)gGt>gTt	p.G767V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	767	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGCGGAGGTTCGACCTGC	0.587000													7	30					1.06961e-07	1.26753e-07	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99932018	99932018	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:99932018C>G	ENST00000524871.1	+	10	1345	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G	CNTN5_ENST00000418526.2_Missense_Mutation_p.A278G|CNTN5_ENST00000527185.1_Missense_Mutation_p.A352G|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352G|CNTN5_ENST00000528682.1_Missense_Mutation_p.A352G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	352	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A352V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCTCAGGCGGTGCTGGAA	0.433000													8	113					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558992	140558992	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140558992G>T	ENST00000239444.2	+	1	1622	c.1377G>T	c.(1375-1377)ctG>ctT	p.L459L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		459	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTACACCCTGTTCGTCCGCG	0.612000													26	125					2.08457e-15	3.00938e-15	1	1	0
ZNF264	9422	broad.mit.edu	37	19	57723702	57723702	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:57723702T>A	ENST00000263095.6	+	4	1651	c.1237T>A	c.(1237-1239)Tac>Aac	p.Y413N	ZNF264_ENST00000536056.1_Missense_Mutation_p.Y413N	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCACCGATCCTACCTCAAGAG	0.522000													17	69					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477605	6477605	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:6477605G>T	ENST00000525074.1	-	6	1745	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S	TRIM3_ENST00000537602.1_Missense_Mutation_p.R373S|TRIM3_ENST00000536344.1_Missense_Mutation_p.R332S|TRIM3_ENST00000359518.3_Missense_Mutation_p.R451S|TRIM3_ENST00000345851.3_Missense_Mutation_p.R451S|TRIM3_ENST00000529058.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	451					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCTACGCACTGCCTTC	0.642000													19	46					1.56452e-12	2.12606e-12	1	1	0
PRB1	5542	broad.mit.edu	37	12	11506889	11506889	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:11506889G>T	ENST00000500254.2	-	3	185	c.148C>A	c.(148-150)Ccc>Acc	p.P50T	PRB1_ENST00000546254.1_Missense_Mutation_p.P50T|PRB1_ENST00000545626.1_Missense_Mutation_p.P50T	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	233						extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGTGGGGGGCCCTGGGGC	0.567000													103	60					1.26289e-39	2.10598e-39	1	1	0
IP6K3	117283	broad.mit.edu	37	6	33703157	33703157	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:33703157T>A	ENST00000451316.1	-	3	632	c.97A>T	c.(97-99)Aag>Tag	p.K33*	IP6K3_ENST00000293756.4_Nonsense_Mutation_p.K33*	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	33					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCGTCATACTTCATCACGCTC	0.617000													5	37					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530472	5530472	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:5530472G>C	ENST00000311659.4	-	2	464	c.317C>G	c.(316-318)tCt>tGt	p.S106C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	106										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGGGACAGAGGCAGCTGG	0.607000													18	44					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70461988	70461988	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:70461988G>A	ENST00000503640.1	-	3	1031	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	UGT2A2_ENST00000457664.2_Missense_Mutation_p.L335F|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000502343.1_Intron|UGT2A1_ENST00000512704.1_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	326					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATCTGGGCAAGGGCTGAGGCA	0.428000													14	43					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018104	58018104	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:58018104C>T	ENST00000282292.4	+	4	781	c.641C>T	c.(640-642)aCt>aTt	p.T214I	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.T213I|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGACTGCACACTGGGGAAAAG	0.418000													45	58					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857638	90857638	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:90857638C>A	ENST00000394980.1	+	7	3126	c.2807C>A	c.(2806-2808)aCa>aAa	p.T936K	MMRN1_ENST00000264790.2_Missense_Mutation_p.T936K|MMRN1_ENST00000508372.1_Missense_Mutation_p.T678K|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	936					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AATGCTTCTACAAGTGTGTCA	0.373000													27	60					2.79863e-10	3.63098e-10	1	1	0
BMP6	654	broad.mit.edu	37	6	7845549	7845549	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:7845549C>A	ENST00000283147.6	+	2	1000	c.841C>A	c.(841-843)Cag>Aag	p.Q281K		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	281					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCAAGTCTTACAGGAGCATCA	0.483000													12	56					0.000978159	0.00103671	1	1	0
TFAP2D	83741	broad.mit.edu	37	6	50683039	50683039	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:50683039G>A	ENST00000008391.3	+	2	478	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	84							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGCCACCCGGCCGTCACCCC	0.592000													46	31					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972069	56972069	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:56972069A>G	ENST00000591790.1	-	3	1577	c.149T>C	c.(148-150)cTg>cCg	p.L50P	ZNF667_ENST00000504904.3_Missense_Mutation_p.L50P|ZNF667_ENST00000342634.3_Missense_Mutation_p.L143P|ZNF667_ENST00000292069.6_Missense_Mutation_p.L50P			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAGCGAGACCAGGTTCCGGTA	0.517000													20	50					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643137	37643137	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:37643137C>G	ENST00000356958.4	-	5	1922	c.1664G>C	c.(1663-1665)tGt>tCt	p.C555S	ZNF585A_ENST00000392157.2_Missense_Mutation_p.C500S|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.C500S			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCTTTCCCACATTCGTGGCA	0.398000													30	45					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108371675	108371675	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:108371675C>T	ENST00000263054.6	-	22	3034	c.3027G>A	c.(3025-3027)ctG>ctA	p.L1009L	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Silent_p.L544L|SORCS1_ENST00000344440.6_Silent_p.L1009L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1009						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCACTTCCACCAGGGATTTTT	0.483000													7	29					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798420	185798420	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:185798420C>A	ENST00000302277.6	+	3	940	c.346C>A	c.(346-348)Cgc>Agc	p.R116S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGCACTCCAACGCCTGCACAA	0.398000													15	36					6.31663e-08	7.51504e-08	1	1	0
COL21A1	81578	broad.mit.edu	37	6	56035587	56035587	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:56035587C>A	ENST00000244728.5	-	5	1283	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	COL21A1_ENST00000535941.1_Missense_Mutation_p.D296Y|COL21A1_ENST00000370819.1_Missense_Mutation_p.D296Y	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	296	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCATAAATCCCAAATTTTC	0.328000													11	3					3.86212e-05	4.28176e-05	1	1	0
PDE6B	5158	broad.mit.edu	37	4	647649	647649	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:647649G>A	ENST00000255622.6	+	4	763	c.720G>A	c.(718-720)ctG>ctA	p.L240L	PDE6B_ENST00000429163.2_5'UTR|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Silent_p.L240L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	240					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGGTGCTGCTGTGGTCGGCCA	0.622000													3	45					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976822	106976822	+	Silent	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:106976822A>T	ENST00000369701.3	+	19	2903	c.2676A>T	c.(2674-2676)acA>acT	p.T892T	SORCS3_ENST00000369699.4_Silent_p.T178T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	892	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCAGGTGACAGCCTATGCAG	0.527000													13	34					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89028371	89028371	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:89028371C>G	ENST00000263321.5	+	5	1929	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	476					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGGATCTGGTCATGGCTCCTT	0.498000													23	46					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573455	140573455	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140573455G>T	ENST00000239446.4	+	1	1514	c.1330G>T	c.(1330-1332)Gtc>Ttc	p.V444F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.587000													23	70					1.03484e-13	1.44877e-13	1	1	0
MIR154	406946	broad.mit.edu	37	14	101526156	101526156	+	RNA	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:101526156G>T	ENST00000385243.1	+	0	65					NR_029704.1																						ATACACGGTTGACCTATTTTT	0.507000													38	39					2.05212e-20	3.17577e-20	1	1	0
MUC16	94025	broad.mit.edu	37	19	9047471	9047471	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:9047471G>T	ENST00000397910.4	-	5	34363	c.34160C>A	c.(34159-34161)gCc>gAc	p.A11387D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11389	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTGAAGTGGCTTCTGCCCC	0.473000													33	53					1.08312e-15	1.5674e-15	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67133539	67133539	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:67133539C>T	ENST00000284425.2	-	3	373	c.199G>A	c.(199-201)Gta>Ata	p.V67I	ABCA6_ENST00000590645.1_Missense_Mutation_p.V67I	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	67					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AATTTATCTACCCTTCCCAGA	0.388000													49	30					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181664	57181664	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:57181664G>T	ENST00000504228.1	+	6	2101	c.1996G>T	c.(1996-1998)Gca>Tca	p.A666S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A666S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A659S			Q6ZU35	K1211_HUMAN	KIAA1211	666										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTCCGCACTCGCAGAATGGGC	0.682000													14	27					7.93312e-07	9.18411e-07	1	1	0
FIBCD1	84929	broad.mit.edu	37	9	133799182	133799182	+	Silent	SNP	C	C	A	rs114210057	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:133799182C>A	ENST00000372338.4	-	4	1040	c.798G>T	c.(796-798)ccG>ccT	p.P266P	FIBCD1_ENST00000448616.1_Silent_p.P266P|FIBCD1_ENST00000372337.2_Silent_p.P108P|FIBCD1_ENST00000253018.4_Silent_p.P108P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	266	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGAAGCCGGCCGGGTAGTGGG	0.692000													14	24					4.93089e-13	6.85542e-13	1	1	0
TMEM57	55219	broad.mit.edu	37	1	25785233	25785233	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:25785233G>A	ENST00000374343.4	+	6	1183	c.1004G>A	c.(1003-1005)aGt>aAt	p.S335N	TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	335						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTCGAAGTCATAGCGCC	0.423000													26	180					0	0	1	0	0
LOC643733	643733	broad.mit.edu	37	11	104774251	104774251	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:104774251C>A	ENST00000532510.1	-	0	3285																											TGGACTGTTGCCTCCGGACTT	0.423000													3	22					0.004672	0.00486599	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140711949	140711949	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:140711949G>T	ENST00000460843.1	+	24	3460	c.3433G>T	c.(3433-3435)Gac>Tac	p.D1145Y		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1145	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GTCCCTGCAGGACATCCCACC	0.607000													31	34					8.16721e-17	1.211e-16	1	1	0
CYP3A4	1576	broad.mit.edu	37	7	99377624	99377624	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:99377624G>A	ENST00000336411.2	-	2	339	c.156C>T	c.(154-156)tcC>tcT	p.S52S	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	52					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCTTATGGTAGGACAAAATAT	0.423000													7	37					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283226	238283226	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:238283226C>A	ENST00000295550.4	-	8	3960	c.3508G>T	c.(3508-3510)Gct>Tct	p.A1170S	COL6A3_ENST00000392003.2_Missense_Mutation_p.A763S|COL6A3_ENST00000409809.1_Missense_Mutation_p.A964S|COL6A3_ENST00000472056.1_Missense_Mutation_p.A563S|COL6A3_ENST00000392004.3_Missense_Mutation_p.A964S|COL6A3_ENST00000347401.3_Missense_Mutation_p.A969S|COL6A3_ENST00000353578.4_Missense_Mutation_p.A964S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A970S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1170	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGATGTCAGCGTTCCCGATG	0.607000													22	42					6.44725e-10	8.24044e-10	1	1	0
ALS2CL	259173	broad.mit.edu	37	3	46730923	46730923	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:46730923T>G	ENST00000318962.4	-	2	91	c.8A>C	c.(7-9)aAc>aCc	p.N3T	ALS2CL_ENST00000415953.1_Missense_Mutation_p.N3T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	3					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTCCTCAGGGTTGCACATGGC	0.637000													7	8					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013698	247013698	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:247013698C>T	ENST00000366508.1	-	33	5851	c.5715G>A	c.(5713-5715)agG>agA	p.R1905R	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.R1879R|AHCTF1_ENST00000391829.2_Silent_p.R1870R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1870	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCTAGGAGTCCTTTTTGTAA	0.328000													38	40					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	472913	472913	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:472913T>C	ENST00000217244.3	-	9	981	c.606A>G	c.(604-606)ctA>ctG	p.L202L	CSNK2A1_ENST00000349736.5_Silent_p.L202L|CSNK2A1_ENST00000400227.3_Silent_p.L202L|CSNK2A1_ENST00000400217.1_Silent_p.L66L|CSNK2A1_ENST00000460062.1_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	202	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AGTCTACAAGTAGCTCAGGAC	0.398000													19	34					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73544146	73544146	+	Missense_Mutation	SNP	G	G	A	rs111033491		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:73544146G>A	ENST00000224721.6	+	41	5491	c.5486G>A	c.(5485-5487)cGt>cAt	p.R1829H		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1824	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCTGTGCCCGTGACCGGGGG	0.617000													8	33					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618902	7618902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:7618902C>A	ENST00000256861.6	-	10	1570	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.A280S|ITIH5_ENST00000397145.2_Missense_Mutation_p.A498S|ITIH5_ENST00000397146.2_Missense_Mutation_p.A498S|ITIH5_ENST00000298441.6_Missense_Mutation_p.A284S	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	498					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTCTTGGTGGCCTGCACCACT	0.587000													17	34					3.52763e-06	4.02967e-06	1	1	0
USH2A	7399	broad.mit.edu	37	1	216498862	216498862	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:216498862G>A	ENST00000366943.2	-	6	1314	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	USH2A_ENST00000307340.3_Missense_Mutation_p.R310W|USH2A_ENST00000366942.3_Missense_Mutation_p.R310W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	310	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGTGGACCCGCGGGTGGCTG	0.532000										HNSCC(13;0.011)			14	62					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32339229	32339229	+	Silent	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr13:32339229A>C	ENST00000298386.2	+	4	446	c.375A>C	c.(373-375)gtA>gtC	p.V125V	RXFP2_ENST00000380314.1_Silent_p.V125V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	125						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGAATGTGTAAATGGTGACT	0.333000													14	49					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648250	112648250	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:112648250C>A	ENST00000471858.1	-	3	470	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	CD200R1_ENST00000440122.2_Missense_Mutation_p.G103C|CD200R1_ENST00000295863.4_Missense_Mutation_p.G58C|CD200R1_ENST00000490004.1_Missense_Mutation_p.G80C|CD200R1_ENST00000308611.3_Missense_Mutation_p.G103C	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	80	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GAAGGCTGGCCTCTCAGGATT	0.428000													22	84					7.41877e-09	9.18951e-09	1	1	0
NPAT	4863	broad.mit.edu	37	11	108043050	108043050	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:108043050T>A	ENST00000278612.8	-	13	2766	c.2661A>T	c.(2659-2661)gtA>gtT	p.V887V		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	887					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCAACACCACTACATTAGACT	0.448000													53	135					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390103	27390103	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:27390103C>A	ENST00000379214.4	-	18	2610	c.2167G>T	c.(2167-2169)Gtt>Ttt	p.V723F	LGR4_ENST00000389858.4_Missense_Mutation_p.V699F	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	723						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GTGTAGATAACGGCCATTAAT	0.388000													47	60					1.8453e-21	2.8779e-21	1	1	0
KCNV1	27012	broad.mit.edu	37	8	110980758	110980758	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:110980758G>T	ENST00000524391.1	-	4	2094	c.1062C>A	c.(1060-1062)tcC>tcA	p.S354S	KCNV1_ENST00000297404.1_Silent_p.S354S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	354						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGATTCCCACGGATAGAAATA	0.468000													26	47					1.64293e-13	2.28946e-13	1	1	0
MAP4	4134	broad.mit.edu	37	3	47960230	47960230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:47960230C>A	ENST00000426837.2	-	7	769	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	MAP4_ENST00000395734.3_Nonsense_Mutation_p.E211*|MAP4_ENST00000360240.6_Nonsense_Mutation_p.E211*|MAP4_ENST00000383737.4_Nonsense_Mutation_p.E211*			P27816	MAP4_HUMAN	microtubule-associated protein 4	211					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGAGGAGGTTCTGCAACAGCC	0.443000													22	44					5.26018e-13	7.2796e-13	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8376715	8376715	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:8376715G>T	ENST00000381196.4	-	35	4941	c.4398C>A	c.(4396-4398)gaC>gaA	p.D1466E	PTPRD_ENST00000356435.5_Missense_Mutation_p.D1466E|PTPRD_ENST00000355233.5_Missense_Mutation_p.D1060E|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1444E|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1466E|PTPRD_ENST00000537002.1_Missense_Mutation_p.D1056E|PTPRD_ENST00000397617.3_Missense_Mutation_p.D1059E|PTPRD_ENST00000397606.3_Missense_Mutation_p.D1059E|PTPRD_ENST00000397611.3_Missense_Mutation_p.D1056E|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1453E|PTPRD_ENST00000486161.1_Missense_Mutation_p.D1059E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1466	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCAATACTGGTCACACTTCA	0.443000										TSP Lung(15;0.13)			18	23					6.49762e-13	8.93052e-13	1	1	0
KALRN	8997	broad.mit.edu	37	3	124437978	124437978	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:124437978G>T	ENST00000360013.3	+	60	8749	c.8622G>T	c.(8620-8622)ctG>ctT	p.L2874L	KALRN_ENST00000428018.2_Silent_p.L1145L|KALRN_ENST00000291478.4_Silent_p.L1177L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2873	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGTCATGCTGAGTGGGGTCT	0.532000													17	46					3.52763e-06	4.02967e-06	1	1	0
PGAM4	441531	broad.mit.edu	37	X	77224974	77224974	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:77224974G>C	ENST00000458128.1	-	1	161	c.162C>G	c.(160-162)atC>atG	p.I54M	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	54					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						AGGTGAGGCAGATGTCAAACT	0.617000													69	24					0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166033914	166033914	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:166033914C>A	ENST00000306480.5	-	1	157	c.12G>T	c.(10-12)ggG>ggT	p.G4G	TMEM192_ENST00000506087.1_Intron	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	4						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCATCCTGCCCCCCGCCGCCA	0.706000													10	11					0.000442599	0.000473259	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157660142	157660142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:157660142G>T	ENST00000368184.3	-	9	1884	c.1593C>A	c.(1591-1593)aaC>aaA	p.N531K	FCRL3_ENST00000368186.5_Missense_Mutation_p.N531K|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	531	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCAGAGAGAGGTTGAAGGATG	0.532000													21	80					4.96729e-08	5.9214e-08	1	1	0
DDX1	1653	broad.mit.edu	37	2	15747309	15747309	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:15747309G>C	ENST00000381341.2	+	14	1217	c.828G>C	c.(826-828)caG>caC	p.Q276H	DDX1_ENST00000233084.3_Missense_Mutation_p.Q276H			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	276	Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTAATGCACAGGTGACACAAA	0.353000													32	62					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110083	98110083	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:98110083C>A	ENST00000383695.1	+	1	574	c.574C>A	c.(574-576)Cct>Act	p.P192T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTGTATTAACCCTTATATCAA	0.299000													18	66					5.01169e-05	5.52571e-05	1	1	0
CDH18	1016	broad.mit.edu	37	5	19544072	19544072	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:19544072G>T	ENST00000507958.1	-	11	2286	c.1296C>A	c.(1294-1296)aaC>aaA	p.N432K	CDH18_ENST00000506372.1_Missense_Mutation_p.N432K|CDH18_ENST00000274170.4_Missense_Mutation_p.N432K|CDH18_ENST00000502796.1_Missense_Mutation_p.N432K|CDH18_ENST00000382275.1_Missense_Mutation_p.N432K|CDH18_ENST00000511273.1_Missense_Mutation_p.N432K			Q13634	CAD18_HUMAN	cadherin 18, type 2	432	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGCATCAATGTTGAAAAATC	0.353000													26	59					9.57634e-11	1.25598e-10	1	1	0
TPSB2	64499	broad.mit.edu	37	16	1279674	1279674	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:1279674C>A	ENST00000430512.2	-	0	177				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCTGCCAGGGCCACTTGCTCC	0.697000													6	35					0.0293803	0.029726	1	1	0
ANKRD33	341405	broad.mit.edu	37	12	52284470	52284470	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:52284470T>A	ENST00000301190.6	+	5	967	c.740T>A	c.(739-741)cTg>cAg	p.L247Q	ANKRD33_ENST00000340970.4_Missense_Mutation_p.L122Q|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.L53Q	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	122										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGGCAGCTGCTGAGGCGGCCC	0.677000													9	21					0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122718566	122718566	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:122718566C>A	ENST00000306467.5	-	13	2182	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	CEP120_ENST00000328236.5_Missense_Mutation_p.Q626H|CEP120_ENST00000306481.6_Missense_Mutation_p.Q600H			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	626						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ACGGCTTTTGCTGTACGGCAG	0.393000													18	46					6.94344e-10	8.85583e-10	1	1	0
DNAJB11	51726	broad.mit.edu	37	3	186299189	186299189	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:186299189G>T	ENST00000439351.1	+	6	1415	c.486G>T	c.(484-486)caG>caT	p.Q162H	DNAJB11_ENST00000265028.3_Missense_Mutation_p.Q162H			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	162					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TGGCAAGGCAGGCTCCTGGCA	0.512000													7	43					0.0293803	0.029726	1	1	0
TENM2	57451	broad.mit.edu	37	5	167674518	167674518	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:167674518C>T	ENST00000519204.1	+	26	6329	c.6211C>T	c.(6211-6213)Ctg>Ttg	p.L2071L	TENM2_ENST00000403607.2_Silent_p.L2016L|TENM2_ENST00000520394.1_Silent_p.L1953L|TENM2_ENST00000518659.1_Silent_p.L2192L|TENM2_ENST00000545108.1_Silent_p.L2191L					teneurin transmembrane protein 2																		GGAGCTAAAACTGGGGCCCTA	0.572000													12	24					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108388547	108388547	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:108388547G>C	ENST00000361582.3	+	22	2673	c.2443G>C	c.(2443-2445)Gct>Cct	p.A815P	DZIP3_ENST00000463306.1_Missense_Mutation_p.A815P	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	815					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCAAATCCATGCTAAAGATAA	0.343000													12	36					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55626470	55626470	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:55626470A>T	ENST00000373965.2	-	28	4064	c.3670T>A	c.(3670-3672)Tac>Aac	p.Y1224N	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y1222N|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y1195N|PCDH15_ENST00000409834.1_Missense_Mutation_p.Y828N|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y1217N|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y1217N|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y1217N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Y1146N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y1180N|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y1224N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1217	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACTTGAAGTAGGATCTCCTC	0.398000										HNSCC(58;0.16)			9	45					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130586703	130586703	+	Silent	SNP	G	G	T	rs45439096		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:130586703G>T	ENST00000344849.3	-	8	1294	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ENG_ENST00000373203.4_Silent_p.P338P|ENG_ENST00000480266.1_5'UTR			P17813	EGLN_HUMAN	endoglin	338	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATCGGTGCGGGTGAGGTCT	0.587000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				11	22					4.68919e-08	5.62329e-08	1	1	0
PEG3	5178	broad.mit.edu	37	19	57328491	57328491	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:57328491G>T	ENST00000326441.9	-	10	1682	c.1319C>A	c.(1318-1320)aCc>aAc	p.T440N	PEG3_ENST00000593695.1_Missense_Mutation_p.T314N|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.T440N|PEG3_ENST00000598410.1_Missense_Mutation_p.T316N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	440					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGTGACTCGGTAAAGGAGGG	0.498000													47	129					2.77807e-22	4.3552e-22	1	1	0
FSCB	84075	broad.mit.edu	37	14	44974065	44974065	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:44974065G>T	ENST00000340446.4	-	1	2417	c.2126C>A	c.(2125-2127)gCa>gAa	p.A709E		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	709						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGCCTCTTCTGCAGGGACATC	0.537000													20	23					4.96729e-08	5.9214e-08	1	1	0
REXO1	57455	broad.mit.edu	37	19	1827786	1827786	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:1827786C>A	ENST00000170168.4	-	2	1096	c.1002G>T	c.(1000-1002)ctG>ctT	p.L334L	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	334						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCTCCCGCAGGCCGCCCC	0.726000													6	4					0.00116845	0.00123188	1	1	0
LGALS4	3960	broad.mit.edu	37	19	39292721	39292721	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:39292721C>T	ENST00000307751.4	-	9	1213	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	246	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCCGGACCACGGTACCGTTG	0.557000													31	60					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103119905	103119905	+	Splice_Site	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:103119905A>G	ENST00000295269.4	+	3	1177		c.e3-1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTTTTGCCTAGGTCTTATAC	0.338000													4	21					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158581118	158581118	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:158581118C>G	ENST00000368148.3	-	52	7376	c.7196G>C	c.(7195-7197)cGg>cCg	p.R2399P	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2396P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2399					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCGACCCCGTGGGTCCAT	0.443000													48	50					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78329134	78329134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:78329134G>T	ENST00000255189.3	-	8	1319	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	DMGDH_ENST00000380311.4_Missense_Mutation_p.R230S|DMGDH_ENST00000540686.1_Missense_Mutation_p.R51S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	431					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTGCCATAGCGATTAGGATCC	0.423000													38	63					8.73648e-17	1.28906e-16	1	1	0
VCAN	1462	broad.mit.edu	37	5	82836456	82836456	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:82836456T>C	ENST00000265077.3	+	8	8199	c.7634T>C	c.(7633-7635)aTa>aCa	p.I2545T	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I1558T|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2545	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATATTATCATAGACCTGGAC	0.378000													21	76					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298716	158298716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:158298716C>A	ENST00000368168.3	-	5	1082	c.975G>T	c.(973-975)agG>agT	p.R325S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	325					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.R325R(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTCACCGGCGCCTCATATACC	0.383000													8	37					0.27861	0.279074	1	1	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253728	32253728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr21:32253728C>A	ENST00000332378.4	-	1	146	c.116G>T	c.(115-117)gGc>gTc	p.G39V		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	39						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAAACAGATGCCGCCCAGGCA	0.572000													17	28					2.35188e-11	3.11172e-11	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85731139	85731139	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:85731139T>A	ENST00000322366.6	-	14	2653	c.2246A>T	c.(2245-2247)gAg>gTg	p.E749V	WDFY3_ENST00000295888.4_Missense_Mutation_p.E749V|WDFY3-AS1_ENST00000510449.1_RNA			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	749						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACATCTTCCTCTAAAAGTCT	0.398000													38	86					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109893983	109893983	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:109893983C>G	ENST00000228495.6	-	6	944	c.663G>C	c.(661-663)cgG>cgC	p.R221R	KCTD10_ENST00000540411.1_Silent_p.R195R|KCTD10_ENST00000540089.1_Silent_p.R40R|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Silent_p.R40R	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	221					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CAGCAATCTTCCGGCCCTGAC	0.478000													10	76					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29627993	29627993	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:29627993C>A	ENST00000318184.5	-	14	1600		c.e14+1		OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1						proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTATACTCACCTGAGGGCAA	0.348000													3	11					0.004672	0.00486599	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34149551	34149551	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:34149551C>T	ENST00000346193.3	-	1	896	c.845G>A	c.(844-846)gGc>gAc	p.G282D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	282										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTCTCCCGGCCCTCACAAGG	0.582000													19	15					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087389	55087389	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:55087389C>A	ENST00000251377.3	+	7	1201	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	LILRA2_ENST00000251376.3_Silent_p.T356T|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.T344T|LILRA2_ENST00000391738.3_Silent_p.T356T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCTTCTGACCAAGGAGGGGG	0.612000													24	58					4.16121e-05	4.60487e-05	1	1	0
TULP3	7289	broad.mit.edu	37	12	3018726	3018726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:3018726C>T	ENST00000448120.2	+	2	124	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	TULP3_ENST00000397132.2_Nonsense_Mutation_p.Q25*	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	25					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GAAGATGCGACAGGCTAAGCT	0.378000													41	180					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41762287	41762287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:41762287C>A	ENST00000196371.5	-	14	1424	c.1264G>T	c.(1264-1266)Gga>Tga	p.G422*	OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000512084.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000510634.1_Nonsense_Mutation_p.G25*|OXCT1_ENST00000509987.1_Nonsense_Mutation_p.G236*	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	422					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CCTCCCATTCCTTTCACCATC	0.393000													28	137					2.61193e-14	3.69972e-14	1	1	0
ARHGAP4	393	broad.mit.edu	37	X	153184454	153184454	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:153184454C>T	ENST00000370028.3	-	8	1041	c.984G>A	c.(982-984)acG>acA	p.T328T	ARHGAP4_ENST00000537206.1_Silent_p.T265T|ARHGAP4_ENST00000370016.1_Silent_p.T267T|ARHGAP4_ENST00000350060.5_Silent_p.T288T|ARHGAP4_ENST00000393721.1_Intron	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	288					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCAGCGGCCGTGTAGCTCC	0.642000													37	12					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367063	248367063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:248367063G>T	ENST00000456743.1	+	1	732	c.694G>T	c.(694-696)Gag>Tag	p.E232*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232K(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			GGGATCTGGAGAGGGTCGTCG	0.448000													10	271					2.27111e-07	2.6445e-07	1	1	0
CCT6P1	643253	broad.mit.edu	37	7	65219610	65219610	+	RNA	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:65219610G>C	ENST00000442266.1	+	0	282																											CCTAATCATTGGAGAGCTGCT	0.413000													21	51					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196887415	196887415	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:196887415A>G	ENST00000367416.2	+	10	1750	c.1613A>G	c.(1612-1614)tAt>tGt	p.Y538C	CFHR4_ENST00000367418.1_Missense_Mutation_p.Y292C|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.Y292C	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATAAAATATTATGCAAAAACA	0.299000													30	86					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333230	227333230	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:227333230G>A	ENST00000366769.3	-	8	2394	c.1103C>T	c.(1102-1104)aCa>aTa	p.T368I	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T368I|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T368I|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T368I	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	368	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAAATTCGATGTATCTGTTGG	0.343000													19	97					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116887422	116887422	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:116887422A>G	ENST00000355044.3	+	4	683	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.Y186C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	186	CUB.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACATCTGGCTATGCACTGTTA	0.318000													6	16					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63662049	63662049	+	Silent	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:63662049G>C	ENST00000279873.7	+	2	563	c.153G>C	c.(151-153)ccG>ccC	p.P51P		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	51					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAAGGATCCGATTTGCATAG	0.458000													13	46					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131797653	131797653	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:131797653C>A	ENST00000286355.5	-	16	5221	c.3129G>T	c.(3127-3129)gtG>gtT	p.V1043V	ADCY8_ENST00000377928.3_Silent_p.V912V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1043					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACAGGCCTGACACGGCCATGT	0.502000										HNSCC(32;0.087)			10	66					2.17888e-05	2.43807e-05	1	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875806	75875806	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:75875806G>C	ENST00000266659.3	+	2	568	c.367G>C	c.(367-369)Gac>Cac	p.D123H		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	123					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CGAAATCCAGGACTATGACTT	0.443000													60	73					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405887	20405887	+	RNA	SNP	C	C	T	rs147457236	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:20405887C>T	ENST00000580113.1	-	0	976																											GCTGCTGTGCCGGGTCCTTCA	0.577000													3	46					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21751848	21751848	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:21751848A>T	ENST00000382254.1	-	15	3469	c.2383T>A	c.(2383-2385)Taa>Aaa	p.*795K	CDH12_ENST00000522262.1_Nonstop_Mutation_p.*755K|CDH12_ENST00000504376.2_Nonstop_Mutation_p.*795K|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGACTCCCTTAAGTGACTTTA	0.413000										HNSCC(59;0.17)			36	93					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784198	9784198	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:9784198G>T	ENST00000304374.2	+	1	941	c.545G>T	c.(544-546)aGg>aTg	p.R182M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	182					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AACTGGCACAGGGACCAGGCG	0.617000													18	48					1.33834e-09	1.68552e-09	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116616637	116616637	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:116616637T>G	ENST00000395715.3	-	4	2136	c.1559A>C	c.(1558-1560)aAg>aCg	p.K520T	TRPS1_ENST00000520276.1_Missense_Mutation_p.K511T|TRPS1_ENST00000220888.5_Missense_Mutation_p.K507T|TRPS1_ENST00000519674.1_Missense_Mutation_p.K507T|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	507					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGTCCTTCTTTTTAGCCCC	0.453000									Langer-Giedion syndrome				32	124					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811050	123811050	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:123811050C>A	ENST00000307033.2	+	1	801	c.727C>A	c.(727-729)Cac>Aac	p.H243N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTGCCTCTCACATTGCTGT	0.537000													37	200					1.36161e-19	2.08573e-19	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18625005	18625005	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:18625005C>A	ENST00000406451.3	+	3	274	c.124C>A	c.(124-126)Cgt>Agt	p.R42S	HDAC9_ENST00000428307.2_Missense_Mutation_p.R42S|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84S|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42S|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42S|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42S|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11S|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70S|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCCTGTTGTCCGTGAGAAGCA	0.493000													38	88					1.836e-18	2.77707e-18	1	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475710	140475710	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140475710G>T	ENST00000194155.4	+	1	1484	c.1336G>T	c.(1336-1338)Gtc>Ttc	p.V446F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.602000													14	154					3.62473e-10	4.66258e-10	1	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72004858	72004858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:72004858C>A	ENST00000378743.3	-	33	6107	c.5749G>T	c.(5749-5751)Gtt>Ttt	p.V1917F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1917					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCCTTTAGAACAATCTCAGCA	0.303000													47	141					1.38658e-30	2.256e-30	1	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37095392	37095392	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:37095392G>A	ENST00000421307.1	-	29	2538	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	LRRFIP2_ENST00000396428.2_Missense_Mutation_p.R488W|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.R706W|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.R385W|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.R409W|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.R409W	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	706					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TTCTCCAGCCGCTTGGCCAGG	0.542000													14	87					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915629	126915629	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:126915629G>T	ENST00000398112.1	+	2	341	c.101G>T	c.(100-102)tGg>tTg	p.W34L		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TCAACCCCCTGGGTGGCCATG	0.612000													5	18					0.014758	0.0150327	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128351131	128351131	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:128351131A>T	ENST00000389524.4	+	18	2209	c.2156A>T	c.(2155-2157)aAg>aTg	p.K719M	MYO7B_ENST00000428314.1_Missense_Mutation_p.K719M|MYO7B_ENST00000409816.2_Missense_Mutation_p.K719M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	719	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGCAAGGCAAGCTCCGCCAG	0.612000													27	27					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163131739	163131739	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:163131739C>A	ENST00000313961.5	-	3	460	c.183G>T	c.(181-183)tgG>tgT	p.W61C	RGS5_ENST00000367903.3_Missense_Mutation_p.W81C|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.W61C	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	61					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGGAATCACGCCACTGCAGGG	0.413000													4	46					0.00909568	0.00937603	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324356	31324356	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:31324356C>G	ENST00000269197.5	+	12	4544	c.4544C>G	c.(4543-4545)gCg>gGg	p.A1515G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGCCCGTGGCGTGTCCTCAG	0.542000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	68					0	0	1	0	0
LENG1	79165	broad.mit.edu	37	19	54659539	54659539	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:54659539G>A	ENST00000222224.3	-	4	901	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	239										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCCGCCGCCGGTCATCCGTC	0.677000													4	15					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121622337	121622337	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:121622337T>G	ENST00000328963.5	+	12	1464	c.1010T>G	c.(1009-1011)aTc>aGc	p.I337S	P2RX7_ENST00000535250.1_Missense_Mutation_p.I417S|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000546057.1_Missense_Mutation_p.I507S|P2RX7_ENST00000541446.1_Missense_Mutation_p.I218S			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	507						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGCCTGCATCACCACCTCA	0.622000													4	24					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774867	31774867	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:31774867G>C	ENST00000396556.2	-	6	1099	c.977C>G	c.(976-978)tCc>tGc	p.S326C	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.S262C	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	326					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTGCTCTGTGGAATGTGACTT	0.423000													33	100					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243628	56243628	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:56243628T>A	ENST00000332836.2	-	2	1596	c.1569A>T	c.(1567-1569)atA>atT	p.I523I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	523						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGCATTGGGTTATTTCCTGCT	0.398000													32	95					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55253825	55253825	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:55253825T>C	ENST00000337526.6	-	3	1653	c.1410A>G	c.(1408-1410)gcA>gcG	p.A470A	RTN4_ENST00000357376.3_Silent_p.A264A|RTN4_ENST00000354474.6_Silent_p.A238A|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Silent_p.A264A|RTN4_ENST00000405240.1_Silent_p.A264A|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Silent_p.A264A|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	470					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TCTCAGTTGCTGCTGGGTTAA	0.388000													65	97					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601647	31601647	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:31601647G>T	ENST00000170150.3	+	5	535	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	114						extracellular region	lipid binding										GACGCTGCCTGTGGAACTGCT	0.627000													18	33					4.75885e-15	6.85365e-15	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717137	222717137	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:222717137C>A	ENST00000343410.6	-	2	774	c.716G>T	c.(715-717)gGa>gTa	p.G239V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	239					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACACCACTCCTACCTGCTC	0.612000													35	37					8.4185e-14	1.18134e-13	1	1	0
BNIPL	149428	broad.mit.edu	37	1	151010080	151010080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:151010080G>T	ENST00000368931.3	+	2	235	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S	BNIPL_ENST00000295294.7_5'UTR	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	27					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTAGGAGCAGCCCTGAGACA	0.512000													3	11					0.004672	0.00486599	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158735719	158735719	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:158735719A>G	ENST00000335094.2	-	1	773	c.754T>C	c.(754-756)Tat>Cat	p.Y252H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGCTCCCATAGAAGATGAGA	0.537000													63	110					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128561257	128561257	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:128561257C>A	ENST00000368227.3	-	5	982	c.616G>T	c.(616-618)Gtg>Ttg	p.V206L	PTPRK_ENST00000368210.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368215.3_Missense_Mutation_p.V206L|PTPRK_ENST00000368213.5_Missense_Mutation_p.V206L|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.V206L|PTPRK_ENST00000368207.3_Missense_Mutation_p.V206L|PTPRK_ENST00000532331.1_Missense_Mutation_p.V206L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	206	Ig-like C2-type.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCTGCATTCACCTCTACATCC	0.433000													12	17					0.00185496	0.00194884	1	1	0
TGM3	7053	broad.mit.edu	37	20	2320589	2320589	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:2320589G>T	ENST00000381458.5	+	12	1953	c.1890G>T	c.(1888-1890)ctG>ctT	p.L630L		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	630					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L630fs*5(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCGTGCTGATGGTGGAGG	0.647000													5	8					0.014758	0.0150327	1	1	0
CCDC112	153733	broad.mit.edu	37	5	114607027	114607027	+	Silent	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:114607027G>C	ENST00000379611.5	-	7	1502	c.1215C>G	c.(1213-1215)acC>acG	p.T405T	CCDC112_ENST00000512261.1_Silent_p.T322T|CCDC112_ENST00000506442.1_Silent_p.T322T|CCDC112_ENST00000395557.4_Silent_p.T322T	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	322										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCTTCTGCTGGGTATAACTTT	0.358000													24	94					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813921	123813921	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:123813921C>T	ENST00000321252.2	-	1	659	c.625G>A	c.(625-627)Ggc>Agc	p.G209S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGTGAGCCCAGTAACACC	0.547000													19	76					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105732770	105732770	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:105732770A>G	ENST00000393127.2	+	5	954	c.508A>G	c.(508-510)Att>Gtt	p.I170V	GRIA4_ENST00000525187.1_Missense_Mutation_p.I170V|GRIA4_ENST00000428631.2_Missense_Mutation_p.I170V|GRIA4_ENST00000530497.1_Missense_Mutation_p.I170V|GRIA4_ENST00000282499.5_Missense_Mutation_p.I170V|GRIA4_ENST00000393125.2_Missense_Mutation_p.I170V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	170					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACTCCAAGCTATTATGGAAAA	0.368000													18	63					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149																											GGTACGTGCCCCGCGCTGTGC	0.711000													3	47					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29725152	29725152	+	Splice_Site	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:29725152C>G	ENST00000256062.5	-	9	1568		c.e9-1		TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000319685.8_Splice_Site|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000551659.1_Splice_Site	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AACTCCAGACCTAAAATGAAT	0.358000													13	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596793	179596793	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:179596793C>T	ENST00000589042.1	-	57	17127	c.16903_splice	c.e57+1	p.E5635_splice	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E4391_splice|TTN_ENST00000591111.1_Splice_Site_p.E5318_splice|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5318	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACACAAACCTTTGACTATT	0.453000													57	118					0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596967	48596967	+	Missense_Mutation	SNP	G	G	T	rs139314602	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:48596967G>T	ENST00000310248.2	-	1	203	c.109C>A	c.(109-111)Ctc>Atc	p.L37I		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GCCATGGTGAGGCTGTAGAGG	0.532000													5	53					0.000602214	0.000642789	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67170797	67170797	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:67170797T>A	ENST00000269081.4	-	25	3908	c.2999A>T	c.(2998-3000)tAc>tTc	p.Y1000F	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1000					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAATATGAAGTAGTAAATTAA	0.368000													51	46					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49722300	49722300	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:49722300C>A	ENST00000449682.2	-	15	2001	c.1640G>T	c.(1639-1641)gGc>gTc	p.G547V	AC099668.5_ENST00000563780.1_RNA	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	533	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACCTCATAGCCCGTGAGAGG	0.582000													5	42					0.014758	0.0150327	1	1	0
CD300E	342510	broad.mit.edu	37	17	72610148	72610148	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:72610148G>A	ENST00000392619.1	-	3	529	c.494C>T	c.(493-495)aCa>aTa	p.T165I	CD300E_ENST00000426295.2_Missense_Mutation_p.T179I|CD300E_ENST00000328630.3_Missense_Mutation_p.T138I	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	138						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTGGATGTGTGGTCCTCCT	0.562000													19	13					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158487537	158487537	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:158487537G>T	ENST00000355585.4	+	12	1662	c.1587G>T	c.(1585-1587)cgG>cgT	p.R529R	SYNJ2_ENST00000367122.2_Silent_p.R529R|SYNJ2_ENST00000367121.3_Silent_p.R529R|SYNJ2_ENST00000449859.2_Silent_p.R457R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	529							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATTTCAAGCGGATCCGGATTG	0.537000													46	28					2.37825e-27	3.82809e-27	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67205172	67205172	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:67205172T>C	ENST00000371037.4	+	22	2263	c.2186T>C	c.(2185-2187)aTc>aCc	p.I729T	SGIP1_ENST00000371035.3_Missense_Mutation_p.I519T|SGIP1_ENST00000371036.3_Missense_Mutation_p.I531T|SGIP1_ENST00000371039.1_Missense_Mutation_p.I532T|SGIP1_ENST00000237247.6_Missense_Mutation_p.I760T|SGIP1_ENST00000435165.2_Missense_Mutation_p.I234T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	729					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTGGTCCCCATCGACGGAGGA	0.532000													12	33					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020392	90020392	+	Silent	SNP	G	G	C	rs147663877		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:90020392G>C	ENST00000268122.4	-	8	1226	c.1158C>G	c.(1156-1158)acC>acG	p.T386T	RHCG_ENST00000544600.1_Silent_p.T386T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	386					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTGTTCTTGCGGTCCAGTCCC	0.567000													32	55					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834434	101834434	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:101834434G>T	ENST00000506729.1	-	1	286	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P39T|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P39T|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P39T			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	39						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAGGACTTCGGGGTTCCCTTG	0.597000													88	128					1.3466e-33	2.22097e-33	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37431000	37431000	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:37431000C>G	ENST00000374660.1	+	7	1106	c.1007C>G	c.(1006-1008)cCt>cGt	p.P336R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P336R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P336R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P336R(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGACACACCTAGGGAAATT	0.428000													14	72					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6263054	6263054	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:6263054T>A	ENST00000533426.1	+	5	769	c.618T>A	c.(616-618)ggT>ggA	p.G206G	CNGA4_ENST00000379936.2_Intron			Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	564					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGTGGGGTAGGGGGGAAC	0.532000													36	32					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30991502	30991502	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:30991502G>T	ENST00000262519.8	+	14	5081	c.4395G>T	c.(4393-4395)tgG>tgT	p.W1465C		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1465	Interaction with ASH2L, RBBP5 and WDR5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACACTCACTGGGTCCATCACA	0.632000													10	11					2.17888e-05	2.43807e-05	1	1	0
POU6F2	11281	broad.mit.edu	37	7	39379567	39379567	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:39379567C>A	ENST00000518318.2	+	5	880	c.838C>A	c.(838-840)Cca>Aca	p.P280T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.P280T|POU6F2_ENST00000559001.1_Missense_Mutation_p.P272T			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	280	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGTCAGTCTCCAGGACATGG	0.612000													18	45					7.45023e-12	9.98894e-12	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103433	53103433	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:53103433G>T	ENST00000408890.4	+	1	85	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	23										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AACCCCTGCTGCAAGGCCCCG	0.711000													9	16					0.0477658	0.0482466	1	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683432	140683432	+	Translation_Start_Site	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140683432T>C	ENST00000239451.4	-	1	180	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	1					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCGGACTTCATGTTCGCTCAC	0.632000													14	18					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109475613	109475613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr13:109475613C>A	ENST00000356711.2	+	9	1144	c.1018C>A	c.(1018-1020)Ctg>Atg	p.L340M	MYO16_ENST00000251041.5_Missense_Mutation_p.L340M|MYO16_ENST00000357550.2_Missense_Mutation_p.L340M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	340					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTTCCCGTACTGTCGAGTAA	0.433000													47	36					1.00953e-15	1.46443e-15	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21926000	21926000	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:21926000T>C	ENST00000542643.2	-	23	2143	c.1841A>G	c.(1840-1842)gAg>gGg	p.E614G	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.E673G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.E588G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.E652G|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.E619G	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	588					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCCTGTGTCCTCTCCGTCCAC	0.657000													10	61					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391044	391044	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:391044C>T	ENST00000256509.2	+	10	1493	c.851C>T	c.(850-852)cCa>cTa	p.P284L	CHL1_ENST00000397491.2_Missense_Mutation_p.P268L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	268	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ttttGCAGGCCAACTCCACAG	0.343000													22	49					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55782795	55782795	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:55782795C>G	ENST00000373965.2	-	20	2798	c.2404G>C	c.(2404-2406)Gca>Cca	p.A802P	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A800P|PCDH15_ENST00000395438.1_Missense_Mutation_p.A795P|PCDH15_ENST00000395433.1_Missense_Mutation_p.A773P|PCDH15_ENST00000409834.1_Missense_Mutation_p.A406P|PCDH15_ENST00000320301.6_Missense_Mutation_p.A795P|PCDH15_ENST00000361849.3_Missense_Mutation_p.A795P|PCDH15_ENST00000395430.1_Missense_Mutation_p.A795P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A724P|PCDH15_ENST00000373955.1_Missense_Mutation_p.A795P|PCDH15_ENST00000395432.2_Missense_Mutation_p.A758P|PCDH15_ENST00000395445.1_Missense_Mutation_p.A802P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	795	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGTGTACTGCTCCATCTGTT	0.428000										HNSCC(58;0.16)			24	59					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765733	50765733	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:50765733G>T	ENST00000404971.1	-	11	3260	c.1921C>A	c.(1921-1923)Cct>Act	p.P641T	NRXN1_ENST00000405472.3_Missense_Mutation_p.P593T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406316.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P601T|NRXN1_ENST00000402717.3_Missense_Mutation_p.P593T|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	601	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCTCACCAGGAGCAGTGTAG	0.483000													13	64					5.50884e-06	6.25721e-06	1	1	0
C2orf57	165100	broad.mit.edu	37	2	232457722	232457722	+	Silent	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:232457722A>T	ENST00000313965.2	+	1	148	c.60A>T	c.(58-60)ccA>ccT	p.P20P		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	20										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGGACAGCCCAGCAGGAGAGC	0.617000													21	54					0	0	1	0	0
HCST	10870	broad.mit.edu	37	19	36394674	36394674	+	Splice_Site	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:36394674G>A	ENST00000246551.4	+	3	224	c.109_splice	c.e3-1	p.G37_splice	HCST_ENST00000437550.2_Splice_Site_p.G37_splice			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	37					regulation of immune response	integral to membrane|plasma membrane				lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCTCCAGGCTCTTGTTCC	0.667000													8	28					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404183	197404183	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:197404183A>G	ENST00000367397.1	+	5	2191	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	CRB1_ENST00000535699.1_Missense_Mutation_p.S1040G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.S952G|CRB1_ENST00000367400.3_Missense_Mutation_p.S1064G|CRB1_ENST00000544212.1_Missense_Mutation_p.S545G			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1064	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTTGTGACCAGCACAATTGC	0.468000													30	97					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570230	248570230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:248570230C>A	ENST00000366474.1	+	1	935	c.935C>A	c.(934-936)cCa>cAa	p.P312Q		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACATGCTGCCACATTCTTAC	0.517000													64	73					5.5144e-22	8.62252e-22	1	1	0
KCNB2	9312	broad.mit.edu	37	8	73850036	73850036	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:73850036T>C	ENST00000523207.1	+	3	3034	c.2446T>C	c.(2446-2448)Tta>Cta	p.L816L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	816					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGAAGACTTCTTAGAGCTCCC	0.517000													36	56					0	0	1	0	0
BCL2L1	598	broad.mit.edu	37	20	30309575	30309575	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:30309575T>C	ENST00000307677.4	-	2	857	c.447A>G	c.(445-447)gcA>gcG	p.A149A	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000376062.2_Silent_p.A149A|BCL2L1_ENST00000420653.1_Silent_p.A149A	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	149					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CCACGCACAGTGCCCCGCCGA	0.537000													63	160					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884783	24884783	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:24884783G>T	ENST00000382554.3	+	9	4146	c.3828G>T	c.(3826-3828)caG>caT	p.Q1276H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1276					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTCCTCCAGGGCCTGCTGG	0.632000													37	31					1.42033e-22	2.23248e-22	1	1	0
SERF2	10169	broad.mit.edu	37	15	44085915	44085915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:44085915G>T	ENST00000381359.1	+	5	1053	c.124G>T	c.(124-126)Gag>Tag	p.E42*	SERF2_ENST00000402131.1_Nonsense_Mutation_p.E28*|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Silent_p.R86R|SERF2_ENST00000409614.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000403425.1_Nonsense_Mutation_p.E28*|SERF2_ENST00000594896.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000249786.4_Nonsense_Mutation_p.E42*|SERF2_ENST00000339624.5_Silent_p.R49R	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	42						cytosol|nucleus				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGGACTCGGAGATCATGCA	0.537000													30	61					1.2476e-16	1.83632e-16	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37353530	37353530	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:37353530C>A	ENST00000217420.1	+	1	426	c.163C>A	c.(163-165)Cgc>Agc	p.R55S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	55					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTTGAGCACCGCCAGGGCCT	0.647000													12	22					1.08611e-07	1.28455e-07	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39679175	39679175	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:39679175A>G	ENST00000265708.4	-	5	377	c.274T>C	c.(274-276)Tgc>Cgc	p.C92R	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.C92R|ADAM2_ENST00000347580.4_Missense_Mutation_p.C92R|ADAM2_ENST00000521880.1_Missense_Mutation_p.C92R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	92					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGGTAGTGGCAGAAATTCTGA	0.303000													9	28					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580183	140580183	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140580183A>G	ENST00000354757.3	+	1	836	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		279	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATATGCTATACCTTTTCC	0.378000													38	165					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61022232	61022232	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:61022232C>G	ENST00000373867.3	-	11	1414	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	FAM13C_ENST00000422313.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000373868.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.E400Q|FAM13C_ENST00000442566.3_Missense_Mutation_p.E421Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.E317Q|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Missense_Mutation_p.E421Q	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	400										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTCTTCTCTCCTTCAGGCAT	0.532000													12	45					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44859700	44859700	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:44859700T>A	ENST00000261866.7	-	36	6692	c.6676A>T	c.(6676-6678)Agc>Tgc	p.S2226C	SPG11_ENST00000535302.2_Missense_Mutation_p.S2113C|SPG11_ENST00000427534.2_Missense_Mutation_p.S2226C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2226					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGGCACATGCTGAAGCACAGG	0.552000													22	33					0	0	1	0	0
CEBPG	1054	broad.mit.edu	37	19	33870449	33870449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:33870449G>T	ENST00000284000.3	+	2	966	c.304G>T	c.(304-306)Gaa>Taa	p.E102*		NM_001252296.1|NM_001806.3	NP_001239225.1|NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma	102	Leucine-zipper.				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					AGAAGAGAATGAACGGTTGGA	0.433000													18	27					1.99824e-07	2.33128e-07	1	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140737010	140737010	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140737010C>A	ENST00000571252.1	+	1	2243	c.2243C>A	c.(2242-2244)gCt>gAt	p.A748D	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGTTCGGGCTTTCCTGCAG	0.612000													40	46					1.66425e-11	2.21165e-11	1	1	0
LEPREL2	10536	broad.mit.edu	37	12	6938928	6938928	+	RNA	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:6938928G>A	ENST00000251761.8	+	0	531				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						GGCACCCAGAGTGTGTGTCTG	0.647000											OREG0021637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	31					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022774	12022774	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:12022774G>T	ENST00000396373.4	+	5	1154	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	294						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGCTCTCCGAGGACGGGCT	0.587000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								68	67					1.1794e-34	1.95593e-34	1	1	0
C8A	731	broad.mit.edu	37	1	57372451	57372451	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:57372451G>T	ENST00000361249.3	+	8	1304	c.1208G>T	c.(1207-1209)gGa>gTa	p.G403V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	403	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AAAAAATTTGGAGGTGGCAAA	0.403000													23	111					9.95505e-16	1.44757e-15	1	1	0
RTDR1	27156	broad.mit.edu	37	22	23401822	23401822	+	Missense_Mutation	SNP	G	G	T	rs145071477		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:23401822G>T	ENST00000216036.4	-	7	1061	c.865C>A	c.(865-867)Cgc>Agc	p.R289S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	289							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCATTCAGGCGCGCTATGGTC	0.657000													25	79					3.01185e-09	3.7539e-09	1	1	0
LRGUK	136332	broad.mit.edu	37	7	133932320	133932320	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:133932320A>G	ENST00000285928.2	+	17	2065	c.1996A>G	c.(1996-1998)Ata>Gta	p.I666V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	666							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAGAGATTCTATACACAGACA	0.378000													14	54					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078207	157078207	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:157078207C>G	ENST00000265007.6	-	1	1221	c.880G>C	c.(880-882)Gtg>Ctg	p.V294L	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.V294L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	294					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTAGTAGGCACTGGTGTCAGG	0.547000													19	76					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25395985	25395985	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:25395985G>C	ENST00000315368.3	+	12	1072	c.930G>C	c.(928-930)tgG>tgC	p.W310C	ANAPC4_ENST00000510092.1_Missense_Mutation_p.W310C	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGCTATTATGGGGGAAAGCAA	0.303000													11	27					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115405668	115405668	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:115405668T>C	ENST00000369358.4	-	11	1270	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	NRAP_ENST00000369360.3_Silent_p.K342K|NRAP_ENST00000359988.3_Silent_p.K342K|NRAP_ENST00000360478.3_Silent_p.K342K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	342						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGCAGCGCCTTTCATCTTAT	0.458000													13	54					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50856618	50856618	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:50856618C>T	ENST00000395562.2	+	10	1570	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	CHAT_ENST00000351556.3_Silent_p.V331V|CHAT_ENST00000337653.2_Silent_p.V449V|CHAT_ENST00000395559.2_Silent_p.V331V|CHAT_ENST00000455728.2_Silent_p.V331V|CHAT_ENST00000339797.1_Silent_p.V331V	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	449					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ATGGCATCGTCCTGGTGCAGT	0.602000													5	8					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70092042	70092042	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:70092042A>G	ENST00000282570.3	+	11	1404	c.1153A>G	c.(1153-1155)Atc>Gtc	p.I385V		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	385					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCTCAAGAAATCAATAAAGA	0.313000													12	49					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994828	11994828	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:11994828T>A	ENST00000333796.3	-	1	1758	c.1442A>T	c.(1441-1443)gAa>gTa	p.E481V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	481					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCTTTGCTGTTCAGGATGATG	0.512000													7	94					0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57215643	57215643	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:57215643C>A	ENST00000205214.6	-	11	2454	c.2274G>T	c.(2272-2274)agG>agT	p.R758S	AASDH_ENST00000434343.2_Missense_Mutation_p.R273S|AASDH_ENST00000451613.1_Missense_Mutation_p.R758S|AASDH_ENST00000502617.1_Missense_Mutation_p.R758S|AASDH_ENST00000602986.1_Missense_Mutation_p.R605S|AASDH_ENST00000513376.1_Missense_Mutation_p.R658S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	758					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGACCTCCACCTCACATGTA	0.438000													38	75					6.90743e-12	9.30262e-12	1	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338633	13338633	+	RNA	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:13338633G>A	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						TATTGGTAGGGGTACCAAAGT	0.478000													35	49					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35616947	35616947	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:35616947C>A	ENST00000287272.2	+	13	2086	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	UNC5D_ENST00000420357.1_Missense_Mutation_p.P691H|UNC5D_ENST00000404895.2_Missense_Mutation_p.P758H|UNC5D_ENST00000416672.1_Missense_Mutation_p.P763H|UNC5D_ENST00000453357.2_Missense_Mutation_p.P753H|UNC5D_ENST00000449677.1_Missense_Mutation_p.P334H			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	758					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTGATATTCCCCCATTCCTC	0.448000													26	170					2.79863e-10	3.63098e-10	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140588594	140588594	+	Missense_Mutation	SNP	T	T	G	rs113934136		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140588594T>G	ENST00000239450.2	+	1	304	c.115T>G	c.(115-117)Ttg>Gtg	p.L39V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		39	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGGAGGAATTGCAGAGCGG	0.517000													12	89					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355345	31355345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:31355345G>T	ENST00000542188.1	-	7	1305	c.992C>A	c.(991-993)gCg>gAg	p.A331E	TRPM1_ENST00000397795.2_Missense_Mutation_p.A292E|TRPM1_ENST00000256552.6_Missense_Mutation_p.A314E	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	292					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTACTTGTGCGCAAAGGACAG	0.547000													15	46					3.27435e-08	3.95815e-08	1	1	0
TNR	7143	broad.mit.edu	37	1	175360538	175360538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:175360538C>A	ENST00000367674.1	-	7	2101	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	TNR_ENST00000263525.2_Missense_Mutation_p.D465Y	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	465	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GACGTAACATCGCTGGGGACC	0.527000													7	26					8.12818e-05	8.88052e-05	1	1	0
PKD2	5311	broad.mit.edu	37	4	88959523	88959523	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:88959523C>T	ENST00000237596.2	+	4	1030	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	322			R -> Q (in ADPKD2).|R -> W (in ADPKD2).			basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCCACGAATACGGCAACTCCG	0.478000													33	49					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2415130	2415130	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:2415130G>T	ENST00000360876.4	+	14	2052	c.1996G>T	c.(1996-1998)Gtc>Ttc	p.V666F	EIF3B_ENST00000397011.2_Missense_Mutation_p.V666F	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	666					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TGGGCGCTACGTCGTCACCTC	0.567000													27	70					4.59853e-10	5.90259e-10	1	1	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334658	122334658	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:122334658T>G	ENST00000398250.1	+	6	813	c.461T>G	c.(460-462)cTt>cGt	p.L154R	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.L154R|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L144R|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L91R	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	154					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTTTCGGGCCTTGGCTTCACG	0.597000													6	63					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529268	113529268	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:113529268C>G	ENST00000297405.5	-	28	4995	c.4751G>C	c.(4750-4752)tGt>tCt	p.C1584S	CSMD3_ENST00000352409.3_Missense_Mutation_p.C1584S|CSMD3_ENST00000343508.3_Missense_Mutation_p.C1544S|CSMD3_ENST00000455883.2_Missense_Mutation_p.C1480S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1584	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATACCTATACAGACTGGTGG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	62					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590105	158590105	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:158590105G>A	ENST00000368148.3	-	44	6452	c.6272C>T	c.(6271-6273)tCc>tTc	p.S2091F	SPTA1_ENST00000368147.3_Missense_Mutation_p.S2088F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2091					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTAGCCAGGGAGGCCAAGAA	0.493000													44	56					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055960	154055960	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:154055960A>T	ENST00000389740.2	-	4	1823	c.1724T>A	c.(1723-1725)gTa>gAa	p.V575E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	575						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTGCGCTTACCTCATAGGT	0.463000													67	124					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133768	177133768	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:177133768C>A	ENST00000367654.2	-	1	58	c.45G>T	c.(43-45)ggG>ggT	p.G15G	ASTN1_ENST00000361833.2_Silent_p.G15G|ASTN1_ENST00000424564.2_Silent_p.G15G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.G15G			O14525	ASTN1_HUMAN	astrotactin 1	15					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCGCCGCCGGCCCCCAGCAGC	0.697000													10	10					1.76689e-08	2.15318e-08	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163241264	163241264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:163241264C>A	ENST00000332142.5	-	13	2995	c.2896G>T	c.(2896-2898)Gat>Tat	p.D966Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	966					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCAAAATCGAGCCCAGAT	0.438000													68	102					1.02487e-32	1.67655e-32	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71234983	71234983	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:71234983A>T	ENST00000418814.2	+	15	2810	c.2196A>T	c.(2194-2196)ttA>ttT	p.L732F	FAM135A_ENST00000457062.2_Missense_Mutation_p.L519F|FAM135A_ENST00000505868.1_Missense_Mutation_p.L732F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.L536F|FAM135A_ENST00000370479.3_Missense_Mutation_p.L519F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	732										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAACTAAATTACGAAGTAATC	0.318000													21	66					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882805	43882805	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:43882805T>C	ENST00000443950.2	-	3	1014	c.528A>G	c.(526-528)atA>atG	p.I176M	HNRNPF_ENST00000337970.3_Missense_Mutation_p.I176M|HNRNPF_ENST00000356053.3_Missense_Mutation_p.I176M|HNRNPF_ENST00000544000.1_Missense_Mutation_p.I176M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.I176M	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	176	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.I176M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACCTGTGCCCTATCCTCTCCT	0.552000													26	73					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924844	188924844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:188924844C>G	ENST00000326866.4	+	4	1291	c.883C>G	c.(883-885)Cac>Gac	p.H295D	ZFP42_ENST00000509524.1_Missense_Mutation_p.H295D	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	295					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCTGAAAGCCCACATCCTAAC	0.463000													17	24					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897927	36897927	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:36897927C>G	ENST00000429976.2	-	12	3401	c.3154G>C	c.(3154-3156)Gtt>Ctt	p.V1052L	TRANK1_ENST00000428977.2_Missense_Mutation_p.V502L|TRANK1_ENST00000301807.6_Missense_Mutation_p.V502L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1052					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.V502I(2)|p.V1052I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCCAGTAAACGTGGAATTTC	0.532000													8	32					0	0	1	0	0
UBE2I	7329	broad.mit.edu	37	16	1370587	1370587	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:1370587G>T	ENST00000402301.1	+	5	518	c.482G>T	c.(481-483)cGg>cTg	p.R161L	UBE2I_ENST00000397515.2_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000355803.4_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000325437.5_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	39					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTGGCAGGACGGGAGTGGAGG	0.662000													4	21					1.02788e-11	1.369e-11	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55582052	55582052	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:55582052G>A	ENST00000361849.3	-	34	5834	c.5440C>T	c.(5440-5442)Cct>Tct	p.P1814S	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1789S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1812S|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1809S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1743S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1772S|PCDH15_ENST00000395445.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1812					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaaatggaggtagaagaggt	0.507000										HNSCC(58;0.16)			3	33					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45269868	45269868	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:45269868T>A	ENST00000372201.4	+	11	1531	c.1292T>A	c.(1291-1293)gTg>gAg	p.V431E	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	431						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCCACAGTAGTGGAGTCAGCC	0.562000													27	58					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863450	128863450	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:128863450C>A	ENST00000274487.4	+	5	1223	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	360	Peptidase M12B.		L -> I (in a breast cancer sample; somatic mutation).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L360I(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGTATTTAACCTTTTCCAACA	0.313000													27	42					3.73808e-20	5.77007e-20	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134075509	134075509	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:134075509C>T	ENST00000264360.4	+	2	3505	c.2679C>T	c.(2677-2679)cgC>cgT	p.R893R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	893					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R893R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACAGACCTCGCCGAGTTAACA	0.358000													7	21					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137642728	137642728	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:137642728G>T	ENST00000371817.3	+	13	2076	c.1662_splice	c.e13+1	p.R554_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	554	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCAGGCCAGGGTGAGTACTG	0.642000													4	14					0.00024832	0.000266944	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187626732	187626732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:187626732C>T	ENST00000304698.5	+	8	1866	c.1663C>T	c.(1663-1665)Cat>Tat	p.H555Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	555						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGAACAATTACATACTGCTAA	0.443000													19	48					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2523057	2523057	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:2523057A>T	ENST00000288709.6	-	23	2392	c.2152T>A	c.(2152-2154)Tac>Aac	p.Y718N	MMEL1_ENST00000378412.3_Missense_Mutation_p.Y727N|MMEL1_ENST00000502556.1_Missense_Mutation_p.Y570N	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	727					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TCGGGCCGGTAGGACCCGCAC	0.637000													18	57					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30133047	30133047	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:30133047T>C	ENST00000331968.5	-	4	783	c.554A>G	c.(553-555)cAt>cGt	p.H185R	PRKD1_ENST00000415220.2_Missense_Mutation_p.H185R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	185					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACATCTCTTATGGTAATTCAG	0.378000													46	53					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41751562	41751562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:41751562G>T	ENST00000352645.4	+	18	2381	c.2124G>T	c.(2122-2124)gaG>gaT	p.E708D	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E708D	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	724					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGGTGGTGGAGCCTGACAAGG	0.622000													16	21					3.41278e-10	4.41827e-10	1	1	0
FCGR2B	2213	broad.mit.edu	37	1	161642892	161642892	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:161642892A>C	ENST00000367962.4	+	4	646	c.519A>C	c.(517-519)aaA>aaC	p.K173N	FCGR2B_ENST00000367961.4_Missense_Mutation_p.K166N|FCGR2B_ENST00000358671.5_Missense_Mutation_p.K173N|FCGR2B_ENST00000428605.2_Missense_Mutation_p.K173N|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K166N|FCGR2B_ENST00000403078.3_Missense_Mutation_p.K173N|FCGR2B_ENST00000236937.9_Missense_Mutation_p.K173N|RP11-25K21.1_ENST00000453111.1_RNA			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	173	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AATCCAAGAAATTTTCCCGTT	0.498000			T	?	ALL								10	70					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301839	11301839	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:11301839G>T	ENST00000284486.4	-	2	620	c.82C>A	c.(82-84)Cgg>Agg	p.R28R	FAM167A_ENST00000534308.1_Silent_p.R28R|FAM167A_ENST00000528897.1_Silent_p.R28R	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	28										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TTCAGGCTCCGGAGGTGGTCA	0.647000													19	111					4.96729e-08	5.9214e-08	1	1	0
ASPHD2	57168	broad.mit.edu	37	22	26830398	26830398	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:26830398G>T	ENST00000215906.5	+	2	1255	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	273					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GTGCATCTCTGTGCTGAGCCC	0.552000													53	56					2.0833e-19	3.18311e-19	1	1	0
PIWIL1	9271	broad.mit.edu	37	12	130831129	130831129	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:130831129G>T	ENST00000245255.3	+	5	803	c.531_splice	c.e5+1	p.K177_splice		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	177					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)		TACAGCAAAAGGTTATTTGGG	0.413000													23	31					1.10513e-12	1.50859e-12	1	1	0
FABP12	646486	broad.mit.edu	37	8	82441685	82441685	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:82441685G>T	ENST00000360464.4	-	2	296	c.234C>A	c.(232-234)ggC>ggA	p.G78G	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	78							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						TTGTTTTGTGGCCACCTGGCG	0.388000													39	91					5.04308e-16	7.35093e-16	1	1	0
TNFSF10	8743	broad.mit.edu	37	3	172232740	172232740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:172232740C>A	ENST00000241261.2	-	2	303	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	TNFSF10_ENST00000420541.2_Missense_Mutation_p.D61Y	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	61					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.D61N(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TAACTGTCATCTTCTTTTAAG	0.418000													53	81					5.39261e-20	8.28151e-20	1	1	0
MN1	4330	broad.mit.edu	37	22	28193502	28193502	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:28193502C>G	ENST00000302326.4	-	1	3984	c.3030G>C	c.(3028-3030)tgG>tgC	p.W1010C		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1010							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCCCTTCCCCCAGGATGGCG	0.692000			T	ETV6	"""AML, meningioma"""								20	28					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675783	102675783	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:102675783C>T	ENST00000335263.5	+	3	1356	c.1276C>T	c.(1276-1278)Ccg>Tcg	p.P426S	WDR20_ENST00000499851.2_Missense_Mutation_p.P169S|WDR20_ENST00000454394.2_Missense_Mutation_p.P457S|WDR20_ENST00000424963.2_Missense_Mutation_p.P302S|WDR20_ENST00000556807.1_Missense_Mutation_p.P365S|WDR20_ENST00000556511.2_Missense_Mutation_p.P365S|WDR20_ENST00000342702.3_Missense_Mutation_p.P426S|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.P253S	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	426										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GAACTCTGTGCCGCCTCCTCT	0.552000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	33					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181690944	181690944	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:181690944C>G	ENST00000526775.1	+	16	2172	c.2007C>G	c.(2005-2007)tcC>tcG	p.S669S	CACNA1E_ENST00000367570.1_Silent_p.S669S|CACNA1E_ENST00000358338.5_Silent_p.S620S|CACNA1E_ENST00000357570.5_Silent_p.S620S|CACNA1E_ENST00000367573.2_Silent_p.S669S|CACNA1E_ENST00000360108.3_Silent_p.S669S|CACNA1E_ENST00000367567.4_Silent_p.S276S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	669					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGATCCGCTCCCAGGGTGGGG	0.512000													22	107					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119434506	119434506	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:119434506G>C	ENST00000273390.5	+	6	675	c.598G>C	c.(598-600)Gtt>Ctt	p.V200L	MAATS1_ENST00000463700.1_Missense_Mutation_p.V200L	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GGATGCTGACGTTCAAACAGA	0.463000													53	116					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106090834	106090834	+	RNA	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:106090834G>A	ENST00000390543.2	-	0	962																											GAGACAGGGAGAGGCTCTTCT	0.622000													4	78					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132037881	132037881	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:132037881A>C	ENST00000378746.4	-	13	1919	c.1701T>G	c.(1699-1701)caT>caG	p.H567Q	KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.H594Q|KIF3A_ENST00000378735.1_Missense_Mutation_p.H570Q	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	567					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCCCTCTGATGTTCTTGTT	0.393000													8	40					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176522578	176522578	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:176522578C>A	ENST00000292408.4	+	13	1920	c.1675C>A	c.(1675-1677)Cgg>Agg	p.R559R	FGFR4_ENST00000292410.3_Silent_p.R519R|FGFR4_ENST00000393648.2_Silent_p.R491R|FGFR4_ENST00000393637.1_Silent_p.R519R|FGFR4_ENST00000502906.1_Silent_p.R559R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	559	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GGGAAACCTGCGGGAGTTCCT	0.701000										TSP Lung(9;0.080)			5	14					0.0215528	0.0219168	1	1	0
OR8B12	219858	broad.mit.edu	37	11	124413323	124413323	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:124413323G>T	ENST00000306842.2	-	1	252	c.228C>A	c.(226-228)atC>atA	p.I76I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TTTTGGGAGTGATGGTAGTGG	0.428000													30	60					2.65835e-16	3.89373e-16	1	1	0
MFAP3L	9848	broad.mit.edu	37	4	170912590	170912590	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:170912590G>C	ENST00000361618.3	-	3	1476	c.1169C>G	c.(1168-1170)gCc>gGc	p.A390G	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.A287G	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	390						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGGCTCTGTGGCTTCCAGGTA	0.478000													33	62					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343493	38343493	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:38343493G>T	ENST00000374618.3	+	5	619	c.441G>T	c.(439-441)atG>atT	p.M147I	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.M146I|ZNF33A_ENST00000432900.2_Missense_Mutation_p.M153I|ZNF33A_ENST00000458705.2_Missense_Mutation_p.M146I	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	146						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CATGTGGAATGAGTTTCAACA	0.323000													17	58					3.52763e-06	4.02967e-06	1	1	0
TMEM159	57146	broad.mit.edu	37	16	21181851	21181851	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:21181851G>C	ENST00000233047.4	+	3	658	c.190G>C	c.(190-192)Gtt>Ctt	p.V64L	TMEM159_ENST00000451578.2_Missense_Mutation_p.V88L|TMEM159_ENST00000572599.1_Missense_Mutation_p.V64L|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Missense_Mutation_p.V64L|TMEM159_ENST00000572258.1_Missense_Mutation_p.V64L			Q96B96	TM159_HUMAN	transmembrane protein 159	64						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CATGTCGGCCGTTCCTGTTGG	0.537000													49	83					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1077668	1077668	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:1077668C>G	ENST00000441003.2	+	3	445	c.418C>G	c.(418-420)Cgc>Ggc	p.R140G	MUC2_ENST00000359061.5_Missense_Mutation_p.R140G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	140	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTCTACTCCCGCGCCGGCCT	0.667000													5	12					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132199366	132199366	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:132199366G>T	ENST00000261674.4	+	3	529		c.e3-1		SFSWAP_ENST00000541286.1_Splice_Site	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)						mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTTTATTCAAGAGGAAGAATA	0.373000													15	24					2.31682e-05	2.58762e-05	1	1	0
CCT6A	908	broad.mit.edu	37	7	56126391	56126391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:56126391G>T	ENST00000275603.4	+	8	1183	c.964G>T	c.(964-966)Gag>Tag	p.E322*	CCT6A_ENST00000540286.1_Nonsense_Mutation_p.E291*|CCT6A_ENST00000335503.3_Nonsense_Mutation_p.E277*	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	322					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGAAATATGGAGAGGTATCC	0.328000													11	39					4.3838e-07	5.09469e-07	1	1	0
RAB2A	5862	broad.mit.edu	37	8	61504476	61504476	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:61504476A>G	ENST00000262646.7	+	6	773	c.422A>G	c.(421-423)cAt>cGt	p.H141R	RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000531289.1_Missense_Mutation_p.H117R|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	141					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GCACGAGAACATGGACTCATC	0.348000													28	74					0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23420981	23420981	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:23420981A>G	ENST00000347397.1	+	2	323	c.77A>G	c.(76-78)cAa>cGa	p.Q26R	CSTL1_ENST00000246020.2_Missense_Mutation_p.Q26R|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	26						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GGTCACTTCCAAAGGTGGGAG	0.507000													20	55					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857205	140857205	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140857205C>A	ENST00000308177.3	+	1	1626	c.1522C>A	c.(1522-1524)Cgc>Agc	p.R508S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGTGGGTCGCTATTTCAC	0.488000													11	70					3.86212e-05	4.28176e-05	1	1	0
PIPSL	266971	broad.mit.edu	37	10	95719896	95719896	+	RNA	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:95719896C>T	ENST00000480546.1	-	0	1401					NR_002319.2																						CTGGAGCCTGCTCGCTGAGAG	0.502000													10	49					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57164480	57164480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:57164480C>T	ENST00000504228.1	+	2	190	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q29*|KIAA1211_ENST00000541073.1_Silent_p.H14H			Q6ZU35	K1211_HUMAN	KIAA1211	29										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAATGTCACAGGACAACAT	0.478000													27	22					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466764	51466764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:51466764C>A	ENST00000376851.3	-	4	678	c.239G>T	c.(238-240)aGg>aTg	p.R80M	KLK6_ENST00000424910.2_Missense_Mutation_p.G28W|KLK6_ENST00000391808.1_De_novo_Start_InFrame|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.R80M|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.R80M	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	80	Peptidase S1.	Cleavage; by autolysis.			amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGAACTCTCCCTTTGCCGAAG	0.582000													4	57					1.76689e-08	2.15318e-08	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161520839	161520839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:161520839C>A	ENST00000356592.3	+	2	573	c.113C>A	c.(112-114)aCt>aAt	p.T38N	GABRG2_ENST00000361925.4_Missense_Mutation_p.T38N|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000414552.2_Missense_Mutation_p.T38N	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTTAGCTTCACTAGCCAGAAA	0.363000													11	50					4.68919e-08	5.62329e-08	1	1	0
HOXA10	3206	broad.mit.edu	37	7	27213351	27213351	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:27213351G>A	ENST00000283921.4	-	1	574	c.575C>T	c.(574-576)cCg>cTg	p.P192L	RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	192				P -> R (in Ref. 1; CAB86198).	spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CGGGCCCCGCGGGAAGGGAGC	0.682000													4	2					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001203	27001203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:27001203G>T	ENST00000344420.5	+	6	1002	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	SLC35F6_ENST00000416475.2_Missense_Mutation_p.A231S|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		GGGCTGGGAGGCCTTCCATGC	0.617000													30	70					2.80507e-11	3.70319e-11	1	1	0
MZT2B	80097	broad.mit.edu	37	2	130948088	130948088	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:130948088G>A	ENST00000281871.6	+	3	721	c.366G>A	c.(364-366)gcG>gcA	p.A122A	MZT2B_ENST00000409255.1_Silent_p.A182A	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	122						centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						TGGCCCTGGCGGAACGCAGCA	0.657000													14	20					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515674	51515674	+	Missense_Mutation	SNP	G	G	T	rs143619747		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:51515674G>T	ENST00000328188.1	+	1	393	c.393G>T	c.(391-393)atG>atT	p.M131I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCACTATATGACTATCATGA	0.478000													54	113					5.08636e-23	8.01568e-23	1	1	0
PLBD2	196463	broad.mit.edu	37	12	113824843	113824843	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:113824843G>A	ENST00000280800.3	+	10	1419	c.1388G>A	c.(1387-1389)cGg>cAg	p.R463Q	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431Q	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602000													13	83					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166961995	166961995	+	Missense_Mutation	SNP	G	G	C	rs113109340	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:166961995G>C	ENST00000367872.4	+	4	642	c.398G>C	c.(397-399)cGc>cCc	p.R133P	MAEL_ENST00000367870.2_Missense_Mutation_p.R102P|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	133					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TGTGAACAGCGCTTCCTCCCT	0.368000													39	61					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49854623	49854623	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:49854623C>T	ENST00000377214.4	-	6	899		c.e6-1		TEAD2_ENST00000593945.1_Splice_Site|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000311227.2_Splice_Site|TEAD2_ENST00000601519.1_Splice_Site|TEAD2_ENST00000598810.1_Splice_Site|TEAD2_ENST00000598397.1_Splice_Site			Q15562	TEAD2_HUMAN	TEA domain family member 2						hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGGCTTCACACTGAGGGAAAA	0.527000													4	16					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44750496	44750496	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:44750496A>T	ENST00000372285.3	+	2	161	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	CD40_ENST00000372276.3_Missense_Mutation_p.Q30L|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	30					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	AGAGAAAAACAGTACCTAATA	0.483000									Immune Deficiency with Hyper-IgM				30	62					0	0	1	0	0
C9orf170	401535	broad.mit.edu	37	9	89763778	89763778	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:89763778G>A	ENST00000375941.2	+	1	220	c.133G>A	c.(133-135)Gcc>Acc	p.A45T		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	45										large_intestine(3)|lung(2)|prostate(1)	6						GGGAGGCCTGGCCTCCTGCTC	0.602000													14	21					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46067503	46067503	+	Silent	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:46067503A>C	ENST00000295452.4	-	4	587	c.420T>G	c.(418-420)gtT>gtG	p.V140V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	140					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAATTTTTCCAACCATATTAC	0.343000													7	51					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885901	88885901	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:88885901C>T	ENST00000319675.3	-	1	395	c.299G>A	c.(298-300)gGc>gAc	p.G100D		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	100										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGTGATGATGCCGTACTTGGA	0.547000													39	92					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1278086	1278086	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:1278086C>A	ENST00000378888.5	-	2	507	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	DVL1_ENST00000378891.5_Missense_Mutation_p.G75C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	75	DIX.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCACGCGGCCGTTGAAGCAG	0.657000													18	20					6.49762e-13	8.93052e-13	1	1	0
TTC12	54970	broad.mit.edu	37	11	113234603	113234603	+	Silent	SNP	G	G	T	rs34940277	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:113234603G>T	ENST00000393020.1	+	20	2175	c.1770G>T	c.(1768-1770)acG>acT	p.T590T	TTC12_ENST00000483239.2_Silent_p.T596T|TTC12_ENST00000314756.3_Silent_p.T590T|TTC12_ENST00000529221.1_Silent_p.T590T			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	590							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CTATCTGCACGAATAGTTATC	0.388000													21	26					1.87028e-06	2.15692e-06	1	1	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21195337	21195337	+	RNA	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:21195337A>G	ENST00000591761.1	-	0	119				RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA																							CAAGGGAACAAGGTAACTATT	0.403000													14	32					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204971852	204971852	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:204971852G>A	ENST00000367172.4	+	29	3914	c.3586G>A	c.(3586-3588)Gtc>Atc	p.V1196I	NFASC_ENST00000360049.4_Intron|NFASC_ENST00000401399.1_Missense_Mutation_p.V1089I|NFASC_ENST00000338586.6_Missense_Mutation_p.V1073I|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.V1181I|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.V1117I|NFASC_ENST00000339876.6_Missense_Mutation_p.V1089I			O94856	NFASC_HUMAN	neurofascin	1196	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCAGTACCGTCATCACCTT	0.557000													3	45					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55979502	55979502	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:55979502G>T	ENST00000263923.4	-	7	1240	c.945C>A	c.(943-945)acC>acA	p.T315T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	315	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCTTCTTGGTCATCAGCC	0.418000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	92					7.45023e-12	9.98894e-12	1	1	0
PER2	8864	broad.mit.edu	37	2	239164312	239164312	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:239164312T>A	ENST00000254657.3	-	18	2585	c.2306A>T	c.(2305-2307)cAg>cTg	p.Q769L	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	769	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTCACTTGGCTGCCCCTTGGA	0.408000													49	157					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44856266	44856266	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:44856266C>T	ENST00000372262.3	-	3	951	c.550_splice	c.e3-1	p.G184_splice	CDH22_ENST00000537909.1_Splice_Site_p.G184_splice	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CACCGACGTGCCTGGGCCCGG	0.682000													8	13					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72432719	72432719	+	Splice_Site	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:72432719A>G	ENST00000340595.3	+	22	3260		c.e22-1		SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTATTTTCCAGGAGAAAGAT	0.353000													13	40					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091115	74091115	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:74091115T>A	ENST00000443185.2	-	4	3272	c.2955A>T	c.(2953-2955)ccA>ccT	p.P985P	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGCAGGAGGTGGACCCTGAG	0.662000													7	18					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897386	38897386	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:38897386C>G	ENST00000359357.3	+	73	10821	c.10567C>G	c.(10567-10569)Cca>Gca	p.P3523A	DNAH8_ENST00000449981.2_Missense_Mutation_p.P3740A|DNAH8_ENST00000441566.1_Missense_Mutation_p.P3487A|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGCTGGATCCAGCCTTGGA	0.383000													19	83					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75186957	75186957	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:75186957C>A	ENST00000336926.6	-	16	1608		c.e16+1		HIP1_ENST00000434438.2_Splice_Site	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTCCCACTCACCTTCCGCTGG	0.592000			T	PDGFRB	CMML								45	137					4.44401e-20	6.84219e-20	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24447324	24447324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:24447324G>T	ENST00000398319.2	+	8	1079	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Nonsense_Mutation_p.E232*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	232					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGTGCAGCTGAGACACAGGC	0.478000													20	44					6.33239e-15	9.05486e-15	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55111539	55111539	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:55111539G>C	ENST00000314721.2	+	1	913	c.863G>C	c.(862-864)aGa>aCa	p.R288T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TACTCGTTGAGACAATCAGAG	0.313000													12	45					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3111787	3111787	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:3111787C>A	ENST00000263650.7	-	20	2558		c.e20+1		OSBPL5_ENST00000348039.5_Splice_Site|OSBPL5_ENST00000542243.1_Splice_Site|OSBPL5_ENST00000478260.1_Splice_Site|OSBPL5_ENST00000389989.3_Splice_Site|OSBPL5_ENST00000525498.1_Splice_Site	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5						cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGGGGGCTCACCAGGGACAAA	0.662000													29	24					1.68575e-08	2.06685e-08	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187610	58187610	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:58187610G>C	ENST00000318203.5	+	3	794	c.97G>C	c.(97-99)Gtt>Ctt	p.V33L		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	33					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGACCTGCTGTTCAGAGAGA	0.383000													26	61					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78737817	78737817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:78737817C>A	ENST00000436010.2	-	7	2031	c.1034G>T	c.(1033-1035)tGg>tTg	p.W345L	ROBO1_ENST00000467549.1_Missense_Mutation_p.W348L|ROBO1_ENST00000495273.1_Missense_Mutation_p.W348L|ROBO1_ENST00000464233.1_Missense_Mutation_p.W384L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	384	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTCTCCTCCAGAAAATAGC	0.408000													4	7					0.00024832	0.000266944	1	1	0
MEIS3	56917	broad.mit.edu	37	19	47912374	47912374	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:47912374C>G	ENST00000331559.5	-	8	1230	c.789G>C	c.(787-789)tgG>tgC	p.W263C	MEIS3_ENST00000561096.1_Missense_Mutation_p.W368C|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000559524.1_Missense_Mutation_p.W280C|MEIS3_ENST00000561293.1_Missense_Mutation_p.W280C|MEIS3_ENST00000441740.2_Missense_Mutation_p.W263C|MEIS3_ENST00000558555.1_Missense_Mutation_p.W280C	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	280						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)		GCTGGAACAACCAGGCTCGCA	0.592000													22	69					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111105	145111105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:145111105C>A	ENST00000426825.1	-	15	2122	c.2041G>T	c.(2041-2043)Gag>Tag	p.E681*	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	681							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TAGCCCAGCTCTGCCAGCAGG	0.642000													9	72					0.000673444	0.000716278	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107642164	107642164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:107642164G>A	ENST00000393561.1	-	1	308	c.124C>T	c.(124-126)Cga>Tga	p.R42*	LAMB1_ENST00000222399.6_Nonsense_Mutation_p.R18*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.R18*			P07942	LAMB1_HUMAN	laminin, beta 1	18	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCGCACTCGGGCTCTGCAC	0.642000													5	9					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959230	53959230	+	RNA	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:53959230G>T	ENST00000454407.1	+	0	1922							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATTCATACTGGAGAGAAACCA	0.408000													32	78					9.65021e-13	1.32333e-12	1	1	0
PRSS55	203074	broad.mit.edu	37	8	10390478	10390478	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:10390478G>C	ENST00000328655.3	+	4	701	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	PRSS55_ENST00000522210.1_Missense_Mutation_p.E221Q|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	221	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGACTGGGAGGAGTGTTCAAA	0.478000													21	55					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769170	247769170	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:247769170G>A	ENST00000320002.2	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATCACTTACGGTGGTTGTGT	0.473000													45	261					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110700	33110700	+	Silent	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr13:33110700T>C	ENST00000267068.3	-	2	629	c.465A>G	c.(463-465)caA>caG	p.Q155Q	N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Silent_p.Q155Q|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	155										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTTTCTCTTTTTGTCCTCCTC	0.338000													52	60					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78452838	78452838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:78452838C>T	ENST00000397909.2	+	12	2752	c.2579C>T	c.(2578-2580)gCa>gTa	p.A860V	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.A860V|NAV3_ENST00000228327.6_Missense_Mutation_p.A860V|NAV3_ENST00000536525.2_Missense_Mutation_p.A860V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	860						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						CCAGACACAGCAACTTCCCGG	0.413000										HNSCC(70;0.22)			26	57					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33449548	33449548	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:33449548G>T	ENST00000256261.4	-	4	1136	c.619C>A	c.(619-621)Cag>Aag	p.Q207K	DUSP26_ENST00000523956.1_Missense_Mutation_p.Q207K	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	207						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCCAGACCCTGCCGCAGCCTG	0.657000													6	32					2.0095e-06	2.31304e-06	1	1	0
ADAM32	203102	broad.mit.edu	37	8	39103643	39103643	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:39103643G>A	ENST00000379907.4	+	17	1987	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K	ADAM32_ENST00000519315.1_Silent_p.K514K|ADAM32_ENST00000437682.2_Silent_p.K521K	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	620					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GGATAATTAAGGCTTCAGCAC	0.373000													10	65					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44778629	44778629	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:44778629T>A	ENST00000391958.2	+	5	1943	c.1816T>A	c.(1816-1818)Tat>Aat	p.Y606N	ZNF233_ENST00000334152.1_Missense_Mutation_p.Y588N|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTGGAACTCATATCTTCATGT	0.443000													47	100					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13230969	13230969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:13230969G>T	ENST00000378694.1	+	9	1379	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	MCM10_ENST00000484800.2_Missense_Mutation_p.G436V|MCM10_ENST00000378714.3_Missense_Mutation_p.G435V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	436					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCTTCTCTGGAGGACGAATT	0.532000													24	63					1.64293e-13	2.28946e-13	1	1	0
GPR83	10888	broad.mit.edu	37	11	94113874	94113874	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:94113874T>A	ENST00000243673.2	-	4	884	c.713A>T	c.(712-714)tAc>tTc	p.Y238F	GPR83_ENST00000539203.2_Missense_Mutation_p.Y196F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	238						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAGTCCAGGTACTTCCAGAA	0.577000													11	46					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	601625	601625	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:601625G>A	ENST00000219611.2	+	9	2669	c.2306G>A	c.(2305-2307)aGt>aAt	p.S769N	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CACGGCAGCAGTGAGGGTGTC	0.682000													31	43					0	0	1	0	0
EGLN2	112398	broad.mit.edu	37	19	41307019	41307019	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:41307019A>G	ENST00000593726.1	+	1	1570	c.542A>G	c.(541-543)tAt>tGt	p.Y181C	EGLN2_ENST00000303961.4_Missense_Mutation_p.Y181C|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.Y181C			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	181					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCCCTGGACTATATCGTGCCC	0.672000													41	91					0	0	1	0	0
BANF1	8815	broad.mit.edu	37	11	65770766	65770766	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:65770766G>T	ENST00000312175.2	+	2	553	c.45G>T	c.(43-45)atG>atT	p.M15I	BANF1_ENST00000445560.2_Missense_Mutation_p.M15I|BANF1_ENST00000527348.1_Missense_Mutation_p.M15I|BANF1_ENST00000533166.1_Missense_Mutation_p.M15I|BANF1_ENST00000524628.1_Intron	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	15					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						CAGAGCCCATGGGGGAGAAGC	0.547000													12	27					2.80697e-09	3.51309e-09	1	1	0
NTNG2	84628	broad.mit.edu	37	9	135042385	135042385	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:135042385C>T	ENST00000393229.3	+	2	943	c.167C>T	c.(166-168)cCc>cTc	p.P56L	NTNG2_ENST00000360670.3_Missense_Mutation_p.P56L|NTNG2_ENST00000372179.3_Missense_Mutation_p.P56L|NTNG2_ENST00000393228.4_Missense_Mutation_p.P56L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	56	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AAGGTGGAGCCCTCAGGCATC	0.582000													29	42					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845321	62845321	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:62845321C>A	ENST00000512091.1	+	17	3389	c.2642C>A	c.(2641-2643)aCg>aAg	p.T881K	LPHN3_ENST00000514591.1_Missense_Mutation_p.T881K|LPHN3_ENST00000514996.1_Missense_Mutation_p.T881K|LPHN3_ENST00000504896.1_Missense_Mutation_p.T881K|LPHN3_ENST00000511324.1_Missense_Mutation_p.T949K|LPHN3_ENST00000509896.1_Missense_Mutation_p.T949K|LPHN3_ENST00000507625.1_Missense_Mutation_p.T949K|LPHN3_ENST00000506720.1_Missense_Mutation_p.T949K|LPHN3_ENST00000514157.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506700.1_Missense_Mutation_p.T881K|LPHN3_ENST00000508946.1_Missense_Mutation_p.T881K|LPHN3_ENST00000545650.1_Missense_Mutation_p.T881K|LPHN3_ENST00000506746.1_Missense_Mutation_p.T949K|LPHN3_ENST00000508693.1_Missense_Mutation_p.T949K|LPHN3_ENST00000507164.1_Missense_Mutation_p.T949K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.T881M(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGTGATCACGTGGGTTGGA	0.448000													74	133					7.62465e-47	1.28934e-46	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87692376	87692376	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:87692376C>G	ENST00000436978.1	+	31	5351	c.4871C>G	c.(4870-4872)tCt>tGt	p.S1624C	PTPN13_ENST00000427191.2_Missense_Mutation_p.S1600C|PTPN13_ENST00000411767.2_Missense_Mutation_p.S1619C|PTPN13_ENST00000511467.1_Missense_Mutation_p.S1624C|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1428C	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1619						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAAGACTCTTCTCAGCCATCA	0.413000													4	10					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78350072	78350072	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:78350072T>C	ENST00000255189.3	-	4	503	c.475A>G	c.(475-477)Aca>Gca	p.T159A	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	159					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TACTGTTCTGTTGCATGCCAG	0.398000													31	50					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785627	140785627	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:140785627T>C	ENST00000370515.3	-	2	622	c.289A>G	c.(289-291)Aag>Gag	p.K97E		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTGCTACTTTGCAGGTATT	0.458000													73	39					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48575090	48575090	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:48575090A>G	ENST00000342988.3	+	3	822	c.284A>G	c.(283-285)tAt>tGt	p.Y95C	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y95C|SMAD4_ENST00000452201.2_Missense_Mutation_p.Y95C|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y95C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	95	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)|p.Y95S(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATGTGATCTATGCCCGTCTC	0.368000													26	16					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152212286	152212286	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:152212286C>A	ENST00000455694.2	+	5	670	c.668C>A	c.(667-669)cCt>cAt	p.P223H	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.P80H	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	223	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TCTGGAGGGCCTCTGTCGTGT	0.418000													8	41					0.000157383	0.000170098	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35365814	35365814	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:35365814G>A	ENST00000373347.1	-	4	1436	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R390C			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	390					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGCATCCTGCGGCAGGGGATC	0.627000													39	90					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885745	88885745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:88885745G>T	ENST00000319675.3	-	1	551	c.455C>A	c.(454-456)aCt>aAt	p.T152N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	152										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACAGCTTGGAGTATCTGCAAG	0.552000													32	68					1.13719e-10	1.48824e-10	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124350194	124350194	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:124350194G>T	ENST00000338354.3	+	18	2227	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.R697R|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Silent_p.R697R|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Silent_p.R707R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	707					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCAGTCCCGGTCGACGCCCA	0.517000													39	261					5.20837e-25	8.31681e-25	1	1	0
CNTN5	53942	broad.mit.edu	37	11	99872827	99872827	+	Silent	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:99872827T>G	ENST00000524871.1	+	9	1229	c.939T>G	c.(937-939)gcT>gcG	p.A313A	CNTN5_ENST00000418526.2_Silent_p.A239A|CNTN5_ENST00000527185.1_Silent_p.A313A|CNTN5_ENST00000279463.3_Silent_p.A313A|CNTN5_ENST00000528682.1_Silent_p.A313A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	313	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTACAGCTGCTAAAGGAACAA	0.338000													4	6					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309335	248309335	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:248309335G>A	ENST00000366476.1	+	1	886	c.886G>A	c.(886-888)Gag>Aag	p.E296K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCGCAACAAGGAGGTGACCAG	0.473000													54	53					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76763649	76763649	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:76763649G>A	ENST00000538941.2	-	25	3183	c.2244C>T	c.(2242-2244)taC>taT	p.Y748Y	SCAPER_ENST00000563290.1_Silent_p.Y994Y|SCAPER_ENST00000324767.7_Silent_p.Y994Y	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	993	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGGTGAGGTTGTAAACATTGA	0.353000													6	19					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104924380	104924380	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:104924380G>C	ENST00000507740.1	+	4	1452	c.1216G>C	c.(1216-1218)Gga>Cga	p.G406R	RIMS2_ENST00000262231.10_Missense_Mutation_p.G453R|RIMS2_ENST00000406091.3_Missense_Mutation_p.G598R|RIMS2_ENST00000436393.2_Missense_Mutation_p.G376R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	676					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCGAGATTCAGGAGCAATGCT	0.378000										HNSCC(12;0.0054)			24	66					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962511	69962511	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:69962511G>T	ENST00000305231.7	+	1	319	c.273G>T	c.(271-273)atG>atT	p.M91I	UGT2B7_ENST00000508661.1_Missense_Mutation_p.M91I|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	91					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTTCATCATGCAACAGATTA	0.333000													11	50					0.00829132	0.00860582	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784199	9784199	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:9784199G>T	ENST00000304374.2	+	1	942	c.546G>T	c.(544-546)agG>agT	p.R182S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	182					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACTGGCACAGGGACCAGGCGG	0.617000													18	49					1.33834e-09	1.68552e-09	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116616668	116616668	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:116616668T>A	ENST00000395715.3	-	4	2105	c.1528A>T	c.(1528-1530)Aag>Tag	p.K510*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.K501*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.K497*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.K497*|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	497					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTGTCTGTCTTGGTCATTGTC	0.448000									Langer-Giedion syndrome				49	99					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089450	12089450	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:12089450T>A	ENST00000343949.5	+	4	875	c.720T>A	c.(718-720)ttT>ttA	p.F240L	ZNF763_ENST00000590798.1_Missense_Mutation_p.F257L|ZNF763_ENST00000358987.3_Missense_Mutation_p.F237L|ZNF763_ENST00000538752.1_Missense_Mutation_p.F257L|ZNF763_ENST00000545530.1_Missense_Mutation_p.F115L	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTAAATCCTTTAGTTATTCTG	0.378000													27	31					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40080634	40080634	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:40080634C>T	ENST00000373233.3	-	22	3532	c.3355G>A	c.(3355-3357)Ggc>Agc	p.G1119S	CHD6_ENST00000309279.7_Missense_Mutation_p.G602S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1119					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGAATCGGCCATGAGTCAGG	0.552000													18	37					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:45353208C>A	ENST00000303230.4	-	5	1428	c.1371G>T	c.(1369-1371)ctG>ctT	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343000													11	89					4.68919e-08	5.62329e-08	1	1	0
RND1	27289	broad.mit.edu	37	12	49255801	49255801	+	Silent	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:49255801T>A	ENST00000309739.5	-	3	439	c.309A>T	c.(307-309)gcA>gcT	p.A103A		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	103					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CCTTCTTGAGTGCGCTGTCCA	0.468000													20	31					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48339650	48339650	+	Splice_Site	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:48339650A>T	ENST00000221996.7	+	3	457	c.252_splice	c.e3+1	p.Q84_splice	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Splice_Site_p.Q84_splice	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	84					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCAGGGTTCAGGTGGGGTGG	0.597000													19	33					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537122	27537122	+	RNA	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:27537122C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCATTGCTGTCTGAGGCTGCC	0.473000													37	92					0	0	1	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116464	28116464	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:28116464G>T	ENST00000330236.6	+	2	463	c.279G>T	c.(277-279)ctG>ctT	p.L93L	ZKSCAN8_ENST00000457389.2_Silent_p.L93L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		TCCTGGAGCTGCTGGTGCTGG	0.542000													28	35					2.79863e-10	3.63098e-10	1	1	0
TOP2B	7155	broad.mit.edu	37	3	25640955	25640955	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:25640955C>A	ENST00000435706.2	-	35	4867	c.4666G>T	c.(4666-4668)Ggc>Tgc	p.G1556C	TOP2B_ENST00000264331.4_Missense_Mutation_p.G1561C|TOP2B_ENST00000542520.1_Missense_Mutation_p.G413C|TOP2B_ENST00000540199.1_Missense_Mutation_p.G413C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1561					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTTTTCCTGCCAGGGTTATAA	0.393000													8	18					0.00621372	0.00646055	1	1	0
PASD1	139135	broad.mit.edu	37	X	150832662	150832662	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:150832662G>A	ENST00000370357.4	+	11	1158	c.913G>A	c.(913-915)Gag>Aag	p.E305K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	305						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGGACCTGGAGTTCTCGGT	0.577000													42	18					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77406722	77406722	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:77406722C>G	ENST00000560626.2	-	7	5492	c.5017G>C	c.(5017-5019)Gat>Cat	p.D1673H	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1673H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1673	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGGAAGAGATCTTCGCGGGGG	0.562000													32	57					0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118905627	118905627	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:118905627C>A	ENST00000264234.3	+	2	188	c.39C>A	c.(37-39)ggC>ggA	p.G13G	RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000460625.1_Silent_p.G13G|UPK1B_ENST00000497685.1_Intron	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	13					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GCTTCCAGGGCCTGCTGATTT	0.383000													26	49					4.7796e-09	5.94488e-09	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74091117	74091117	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:74091117G>A	ENST00000443185.2	-	4	3270	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGGAGGTGGACCCTGAGGC	0.657000													7	20					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978706	138978706	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:138978706C>T	ENST00000288561.8	+	17	3973	c.3724C>T	c.(3724-3726)Cac>Tac	p.H1242Y	UBN2_ENST00000473989.2_Missense_Mutation_p.H1325Y	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1325										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCTGCCTGCACACTTACAGCA	0.433000													27	38					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689186	45689186	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:45689186C>A	ENST00000216211.4	+	5	728	c.696C>A	c.(694-696)ctC>ctA	p.L232L	UPK3A_ENST00000396082.2_Silent_p.L111L	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	232					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCATTGCCCTCAGCCTCGTGT	0.627000													7	49					0.00448238	0.00470103	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23524578	23524578	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:23524578C>A	ENST00000296682.3	+	10	1268	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	362	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGAATACGGCCAGGAACTGG	0.512000										HNSCC(3;0.000094)			33	61					2.42023e-17	3.62433e-17	1	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834545	94834545	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:94834545C>A	ENST00000371531.1	+	3	595	c.217C>A	c.(217-219)Cgg>Agg	p.R73R	CYP26A1_ENST00000394139.1_Silent_p.R73R|CYP26A1_ENST00000224356.4_Silent_p.R142R	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	142					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GGTGATTATGCGGGCCTTCAG	0.657000													7	19					8.12818e-05	8.88052e-05	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166533	140166533	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140166533C>G	ENST00000504120.2	+	1	658	c.658C>G	c.(658-660)Ccg>Gcg	p.P220A	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P220A|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P220A	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGGCAAACCGGAGCTGCA	0.453000													34	64					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996076	19996076	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:19996076G>A	ENST00000391403.2	-	1	1802	c.1699C>T	c.(1699-1701)Ccg>Tcg	p.P567S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	567						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGTTCCCACGGAGGTGCCAGG	0.488000													165	50					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237942060	237942060	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:237942060A>T	ENST00000366574.2	+	88	12187	c.11870A>T	c.(11869-11871)aAg>aTg	p.K3957M	RYR2_ENST00000360064.6_Missense_Mutation_p.K3963M|RYR2_ENST00000542537.1_Missense_Mutation_p.K3941M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3957					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCAGATGAAGCTGTCGCAG	0.448000													17	31					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115963186	115963186	+	Missense_Mutation	SNP	G	G	T	rs138005760		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:115963186G>T	ENST00000251864.2	+	8	994	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.V281L|TDRD1_ENST00000369282.1_Missense_Mutation_p.V281L|TDRD1_ENST00000369281.2_Missense_Mutation_p.V281L	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	281					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGACTTCTACGTGCAGTTATA	0.348000													12	55					0.00010058	0.000109294	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182026493	182026493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:182026493C>A	ENST00000339948.3	-	2	860	c.653G>T	c.(652-654)aGc>aTc	p.S218I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCAGCCAGGCTGGCTGGGGT	0.667000													12	13					5.16669e-11	6.80601e-11	1	1	0
DEFA5	1670	broad.mit.edu	37	8	6914088	6914088	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:6914088G>T	ENST00000330590.2	-	1	168	c.132C>A	c.(130-132)atC>atA	p.I44I		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	44					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTGCAAAGGAGATAGCAAGGT	0.498000													27	104					2.79863e-10	3.63098e-10	1	1	0
OR2A2	442361	broad.mit.edu	37	7	143807143	143807143	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:143807143G>T	ENST00000408979.2	+	1	537	c.468G>T	c.(466-468)ctG>ctT	p.L156L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCCTGTCCCTGGTACATGAAA	0.542000													41	41					3.38236e-24	5.38672e-24	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248113083	248113083	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:248113083C>T	ENST00000357191.3	+	1	924	c.924C>T	c.(922-924)tgC>tgT	p.C308C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAGAATCTGCTCTGTGAAAA	0.448000													7	73					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806361	33806361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:33806361G>T	ENST00000260908.7	-	2	985	c.868C>A	c.(868-870)Cct>Act	p.P290T	SLFN12L_ENST00000449046.1_Missense_Mutation_p.P321T|SLFN12L_ENST00000361112.4_Missense_Mutation_p.P319T	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	322						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGATGCACAGGCAGTTTCCCA	0.363000													9	5					1.12685e-05	1.27034e-05	1	1	0
BTD	686	broad.mit.edu	37	3	15686094	15686094	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:15686094C>T	ENST00000383778.4	+	4	1029	c.671C>T	c.(670-672)aCa>aTa	p.T224I	BTD_ENST00000303498.5_Missense_Mutation_p.T244I|BTD_ENST00000449107.1_Missense_Mutation_p.T246I|BTD_ENST00000437172.1_Missense_Mutation_p.T246I			P43251	BTD_HUMAN	biotinidase	244	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGCATCTTCACATGCTTTGAT	0.468000													45	71					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225729344	225729344	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:225729344T>A	ENST00000409592.3	-	13	1623	c.1510A>T	c.(1510-1512)Aaa>Taa	p.K504*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.K510*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	510							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTTCGATTTTGGCCACCAAA	0.363000													19	34					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100492147	100492147	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:100492147C>A	ENST00000279907.7	-	5	723	c.511G>T	c.(511-513)Gat>Tat	p.D171Y	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D171Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	171										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCTGTGGATCCTGAATACGA	0.348000													32	64					1.61788e-16	2.37552e-16	1	1	0
C3AR1	719	broad.mit.edu	37	12	8211766	8211766	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:8211766G>C	ENST00000307637.4	-	2	1219	c.1016C>G	c.(1015-1017)aCt>aGt	p.T339S		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	339					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CACTAGCCTAGTGATCGTTAT	0.488000													5	144					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186389478	186389478	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:186389478G>A	ENST00000232003.4	+	4	538	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	153	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GATACTGAGCGCTACAGAAAA	0.453000													33	30					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616666	116616666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:116616666C>A	ENST00000395715.3	-	4	2107	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	TRPS1_ENST00000520276.1_Missense_Mutation_p.K501N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K497N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K497N|TRPS1_ENST00000519076.1_Intron	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	497					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTTGTCTGTCTTGGTCATTG	0.453000									Langer-Giedion syndrome				49	97					6.18754e-15	8.86881e-15	1	1	0
ABL1	25	broad.mit.edu	37	9	133760658	133760658	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:133760658G>T	ENST00000318560.5	+	11	3362	c.2981G>T	c.(2980-2982)gGg>gTg	p.G994V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	994	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCCTGGCAGGGGACCAGCCG	0.667000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								18	75					1.99824e-07	2.33128e-07	1	1	0
OR51D1	390038	broad.mit.edu	37	11	4661210	4661210	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:4661210G>A	ENST00000357605.2	+	1	266	c.190G>A	c.(190-192)Gtg>Atg	p.V64M		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCATTCGTGTGGAGAGGCG	0.532000													22	83					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100151103	100151103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:100151103G>T	ENST00000300176.4	+	4	687	c.565G>T	c.(565-567)Gct>Tct	p.A189S	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	189					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTCTCAGTTGCTGCCTCCAC	0.547000													23	60					1.10513e-12	1.50859e-12	1	1	0
XPO1	7514	broad.mit.edu	37	2	61721088	61721088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:61721088C>A	ENST00000401558.2	-	12	1913	c.1186G>T	c.(1186-1188)Gga>Tga	p.G396*	XPO1_ENST00000406957.1_Nonsense_Mutation_p.G396*|XPO1_ENST00000404992.2_Nonsense_Mutation_p.G396*	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	396	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGTTGACTTCCAGAAAGCAAC	0.408000			Mis		CLL								64	117					1.72039e-30	2.79158e-30	1	1	0
CARD18	59082	broad.mit.edu	37	11	105009794	105009794	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:105009794G>A	ENST00000530950.1	-	2	18	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	CARD18_ENST00000526823.1_5'UTR|CARD18_ENST00000532895.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	7	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						CTCTTTTTACGCAAGAGTTGG	0.373000													16	54					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239185819	239185819	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:239185819G>T	ENST00000254657.3	-	3	525	c.246C>A	c.(244-246)agC>agA	p.S82R	PER2_ENST00000440245.1_Missense_Mutation_p.S82R|PER2_ENST00000254658.3_Missense_Mutation_p.S82R|PER2_ENST00000355768.2_Missense_Mutation_p.S82R	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	82					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCATCATCAGGCTAAAGGTAT	0.383000													79	172					2.51111e-31	4.09671e-31	1	1	0
LRRC57	255252	broad.mit.edu	37	15	42839596	42839596	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:42839596G>C	ENST00000323443.2	-	3	722	c.355C>G	c.(355-357)Caa>Gaa	p.Q119E	LRRC57_ENST00000563454.1_Missense_Mutation_p.Q119E|LRRC57_ENST00000397130.3_Missense_Mutation_p.Q119E			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	119										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		GCTCCCAGTTGGTTCCCAGAG	0.502000													24	29					0	0	1	0	0
DAZAP1	26528	broad.mit.edu	37	19	1430307	1430307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:1430307G>A	ENST00000336761.6	+	10	1022	c.817G>A	c.(817-819)Ggc>Agc	p.G273S	DAZAP1_ENST00000233078.4_Missense_Mutation_p.G273S	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	273	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCCTGGAGGCTTTCCCCC	0.672000													11	5					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566354	45566354	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:45566354C>A	ENST00000588982.1	-	3	1626	c.1125G>T	c.(1123-1125)ggG>ggT	p.G375G	ZBTB7C_ENST00000590800.1_Silent_p.G375G|ZBTB7C_ENST00000332053.2_Silent_p.G375G|ZBTB7C_ENST00000586438.1_Silent_p.G375G|ZBTB7C_ENST00000535628.2_Silent_p.G375G			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	375						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCTTCCCGGCCCCCATGATGA	0.637000													31	38					4.3181e-19	6.54785e-19	1	1	0
TAAR9	134860	broad.mit.edu	37	6	132859982	132859982	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:132859982C>A	ENST00000434551.1	+	0	554					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GTTGCTCTAACCTGTGTAGGA	0.418000													75	45					1.7488e-33	2.8686e-33	1	1	0
FBXO32	114907	broad.mit.edu	37	8	124546959	124546959	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:124546959C>T	ENST00000517956.1	-	2	403	c.212G>A	c.(211-213)aGc>aAc	p.S71N	FBXO32_ENST00000443022.2_Missense_Mutation_p.S71N	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	71								p.S71T(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGGTTTTGCTATTCAGCAT	0.358000													15	57					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814834	106814834	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:106814834C>A	ENST00000407775.2	+	8	2774	c.2524C>A	c.(2524-2526)Cgg>Agg	p.R842R	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.R573R|ZFPM2_ENST00000517361.1_Silent_p.R710R|ZFPM2_ENST00000520492.1_Silent_p.R710R|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	842					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGTCTGAGCGGACGACCAC	0.463000													7	16					1	1	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144892528	144892528	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:144892528C>T	ENST00000369359.4	-	25	3326	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	PDE4DIP_ENST00000369351.3_Silent_p.E959E|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369349.3_Silent_p.E959E|PDE4DIP_ENST00000530740.1_Silent_p.E1096E|PDE4DIP_ENST00000313431.9_Silent_p.E1122E|PDE4DIP_ENST00000369354.3_Silent_p.E959E|PDE4DIP_ENST00000313382.9_Silent_p.E1025E|PDE4DIP_ENST00000369356.4_Silent_p.E959E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	959					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTGCAGCCTCCTCCTCAATAC	0.517000			T	PDGFRB	MPD								22	133					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467011	21467011	+	Silent	SNP	G	G	A	rs143903868	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:21467011G>A	ENST00000281523.2	-	6	1343	c.825C>T	c.(823-825)caC>caT	p.H275H		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	275						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CCGAGTTGACGTGCACATCAC	0.433000													16	67					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168114087	168114087	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:168114087A>G	ENST00000519560.1	-	30	3630	c.3211T>C	c.(3211-3213)Tgt>Cgt	p.C1071R	SLIT3_ENST00000404867.3_Missense_Mutation_p.C1071R|SLIT3_ENST00000332966.8_Missense_Mutation_p.C1078R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1071	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTCTCACAGAGCTTCCCG	0.597000													9	27					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23309710	23309710	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:23309710T>C	ENST00000258733.4	+	9	1640	c.1345T>C	c.(1345-1347)Tct>Cct	p.S449P	GPNMB_ENST00000381990.2_Missense_Mutation_p.S461P|GPNMB_ENST00000453162.2_Missense_Mutation_p.S403P|GPNMB_ENST00000539136.1_Missense_Mutation_p.S350P			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	461					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTTCAATGGGTCTGGGACGTA	0.527000													4	82					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28360587	28360587	+	Silent	SNP	C	C	T	rs142882696		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:28360587C>T	ENST00000261609.7	-	89	13818	c.13710G>A	c.(13708-13710)gcG>gcA	p.A4570A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4570	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACTGAGGTCCGCGATGGTGA	0.627000													4	20					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109306360	109306360	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:109306360C>T	ENST00000299134.5	-	14	1401	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						ACCGTGCATTCCTCGGCCGAC	0.622000													100	139					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112909	197112909	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:197112909T>C	ENST00000367409.4	-	3	729	c.473A>G	c.(472-474)aAa>aGa	p.K158R	ASPM_ENST00000294732.7_Missense_Mutation_p.K158R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	158					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGCTGAAATTTTCTTCTTTTT	0.308000													7	66					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305211	54305211	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:54305211G>T	ENST00000545554.1	+	1	111	c.111G>T	c.(109-111)caG>caT	p.Q37H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q37H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q37H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	37					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGTATCGTCAGCAGAAAAAGG	0.348000													13	61					7.03913e-09	8.73723e-09	1	1	0
TBKBP1	9755	broad.mit.edu	37	17	45774121	45774121	+	Silent	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:45774121G>C	ENST00000361722.3	+	2	1119	c.270G>C	c.(268-270)ctG>ctC	p.L90L		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	90					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCTTTTCTCTGTATGAAATCA	0.592000													19	14					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856094	12856094	+	Silent	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:12856094T>G	ENST00000332296.7	+	4	1477	c.1374T>G	c.(1372-1374)ccT>ccG	p.P458P	PRAMEF1_ENST00000400814.3_Silent_p.P213P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	458										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCTGCCCTTCCTGTGGCT	0.562000													6	137					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151378855	151378855	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:151378855T>C	ENST00000271715.2	-	19	2970	c.2656A>G	c.(2656-2658)Act>Gct	p.T886A	POGZ_ENST00000392723.1_Missense_Mutation_p.T833A|POGZ_ENST00000409503.1_Missense_Mutation_p.T877A|POGZ_ENST00000361398.3_Missense_Mutation_p.T833A|POGZ_ENST00000368863.2_Missense_Mutation_p.T791A|POGZ_ENST00000540984.1_Missense_Mutation_p.T248A|POGZ_ENST00000531094.1_Missense_Mutation_p.T824A|POGZ_ENST00000491586.1_Missense_Mutation_p.T842A	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	886	Pro-rich.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GATTTCACAGTGGCAGCTTTG	0.577000													26	67					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21947876	21947876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:21947876C>T	ENST00000406877.3	-	4	832	c.553G>A	c.(553-555)Gac>Aac	p.D185N	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D139N|CDCA7L_ENST00000356195.5_Missense_Mutation_p.D151N	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	185					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TGTCTACAGTCTTTCTTTCTT	0.433000													19	41					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56101365	56101365	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:56101365A>T	ENST00000416613.1	+	8	1522	c.1450A>T	c.(1450-1452)Act>Tct	p.T484S	KTN1_ENST00000395309.3_Missense_Mutation_p.T484S|KTN1_ENST00000395311.1_Missense_Mutation_p.T484S|KTN1_ENST00000395308.1_Missense_Mutation_p.T484S|KTN1_ENST00000438792.2_Missense_Mutation_p.T484S|KTN1_ENST00000395314.3_Missense_Mutation_p.T484S|KTN1_ENST00000413890.2_Missense_Mutation_p.T484S			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	484					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCAAGCAGCTACTCAGTTGAA	0.408000			T	RET	papillary thryoid								20	13					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442438	138442438	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:138442438C>G	ENST00000344876.4	-	4	3539	c.3153G>C	c.(3151-3153)caG>caC	p.Q1051H	PCDH18_ENST00000412923.2_Missense_Mutation_p.Q1050H|PCDH18_ENST00000511115.1_Missense_Mutation_p.Q231H|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q830H|PCDH18_ENST00000510305.1_Missense_Mutation_p.Q262H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1051	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCGCTACCCCCTGTGGGTAAC	0.562000													11	40					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363758	22363758	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:22363758T>G	ENST00000397121.2	-	3	1078	c.761A>C	c.(760-762)aAa>aCa	p.K254T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTTCACATTTGTAGGGTTT	0.388000													8	108					0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191827619	191827619	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:191827619C>G	ENST00000320717.3	+	18	2175	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	GLS_ENST00000409428.1_Silent_p.L144L	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	639					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTAAAATTCTCCAAGAATACC	0.428000													23	45					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46621003	46621003	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:46621003C>G	ENST00000330070.4	-	2	1665	c.498G>C	c.(496-498)aaG>aaC	p.K166N	HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	166					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GGCACAGGTACTTATTAAAGT	0.622000													13	39					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969641	240969641	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:240969641A>T	ENST00000402971.2	-	1	265	c.206T>A	c.(205-207)cTg>cAg	p.L69Q		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCAGATCTCCAGGAAAGACAT	0.557000													37	79					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161022062	161022062	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:161022062G>T	ENST00000447678.1	-	20	3134	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	LPA_ENST00000316300.5_Missense_Mutation_p.P1005H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3513	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTGACACTGGGATCTGTTGT	0.488000													39	38					3.93418e-24	6.23257e-24	1	1	0
ZNF626	199777	broad.mit.edu	37	19	20807917	20807917	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:20807917G>T	ENST00000601440.1	-	4	912	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CACTTGTAGGGTTTCTCTCCA	0.388000													11	61					0.000673444	0.000716278	1	1	0
FAM173B	134145	broad.mit.edu	37	5	10227733	10227733	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:10227733T>A	ENST00000280330.8	-	6	636	c.30A>T	c.(28-30)gaA>gaT	p.E10D	FAM173B_ENST00000511437.1_Missense_Mutation_p.E174D|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.E157D			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	174						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAAGTTCACGTTCAAGTTTCT	0.468000													23	33					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12813732	12813732	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:12813732C>A	ENST00000425528.1	-	21	2567	c.2209_splice	c.e21-1	p.G737_splice	TNPO2_ENST00000588216.1_Splice_Site_p.G737_splice|TNPO2_ENST00000450764.2_Splice_Site_p.G737_splice|TNPO2_ENST00000592287.1_Splice_Site_p.G737_splice|TNPO2_ENST00000356861.5_Splice_Site_p.G737_splice|TNPO2_ENST00000441499.1_Splice_Site_p.G737_splice			O14787	TNPO2_HUMAN	transportin 2	737					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATCTCTGCCCCTGGGGGAGC	0.612000													46	45					5.2432e-18	7.9108e-18	1	1	0
XPO1	7514	broad.mit.edu	37	2	61721087	61721087	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:61721087C>A	ENST00000401558.2	-	12	1914	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V	XPO1_ENST00000406957.1_Missense_Mutation_p.G396V|XPO1_ENST00000404992.2_Missense_Mutation_p.G396V	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	396	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ATGTTGACTTCCAGAAAGCAA	0.413000			Mis		CLL								62	119					5.82218e-30	9.42191e-30	1	1	0
PCDHA6	56142	broad.mit.edu	37	5	140209794	140209794	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140209794G>A	ENST00000529310.1	+	1	2232	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTGCGCGGTATCCAGCC	0.697000													9	78					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819798	20819798	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:20819798G>A	ENST00000328879.4	-	4	615	c.459C>T	c.(457-459)ctC>ctT	p.L153L	KLHL22_ENST00000440659.2_Silent_p.L10L	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	153					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGTAGACATCGAGAATGTTCT	0.498000													36	60					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102593161	102593161	+	Splice_Site	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:102593161T>A	ENST00000236826.3	-	2	444	c.347_splice	c.e2+1	p.R116_splice		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	116					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGATATCACCTGTAGGTCAAG	0.458000													13	37					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125081669	125081669	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:125081669A>T	ENST00000522917.1	+	29	3993	c.3787A>T	c.(3787-3789)Aag>Tag	p.K1263*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.K1263*|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1263						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAAATGCTCAAGAAGAAACC	0.468000													9	56					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346862	48346862	+	Missense_Mutation	SNP	G	G	A	rs149944761		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:48346862G>A	ENST00000319856.4	+	1	391	c.370G>A	c.(370-372)Gct>Act	p.A124T		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGCTGCATGGCTCAGCTCTT	0.453000													48	284					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56892962	56892962	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:56892962C>A	ENST00000256857.2	+	2	476	c.378C>A	c.(376-378)ggC>ggA	p.G126G	GRP_ENST00000529320.2_Intron|GRP_ENST00000420468.2_Silent_p.G126G	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	126					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GTTCAAAAGGCAAAGGTAAAA	0.478000													86	63					1.51188e-25	2.42061e-25	1	1	0
DPP6	1804	broad.mit.edu	37	7	154564564	154564564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:154564564G>A	ENST00000404039.1	+	10	1443	c.856G>A	c.(856-858)Gag>Aag	p.E286K	DPP6_ENST00000377770.3_Missense_Mutation_p.E350K|DPP6_ENST00000332007.3_Missense_Mutation_p.E288K|DPP6_ENST00000427557.1_Missense_Mutation_p.E243K	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	350					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGCTGGAAGTGAGAACCCCAG	0.498000													8	12					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103340802	103340802	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:103340802A>C	ENST00000307584.5	+	1	442	c.377A>C	c.(376-378)aAg>aCg	p.K126T		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	126					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAAATAATGAAGAAAAACAAA	0.373000													26	27					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121890960	121890960	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:121890960C>A	ENST00000377069.4	-	13	2235	c.1829G>T	c.(1828-1830)cGc>cTc	p.R610L	KDM2B_ENST00000377071.4_Missense_Mutation_p.R641L|KDM2B_ENST00000542973.1_Missense_Mutation_p.R9L|KDM2B_ENST00000536437.1_Missense_Mutation_p.R524L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	641					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCTTCATGCGCCCGGGGCC	0.706000													6	11					0.0293803	0.029726	1	1	0
CDK15	65061	broad.mit.edu	37	2	202700438	202700438	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:202700438C>A	ENST00000450471.2	+	8	889	c.803C>A	c.(802-804)cCt>cAt	p.P268H	CDK15_ENST00000260967.2_Missense_Mutation_p.P217H|CDK15_ENST00000374598.4_Missense_Mutation_p.P268H|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Missense_Mutation_p.P217H|CDK15_ENST00000434439.1_Missense_Mutation_p.P268H	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	268	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TACCGGCCCCCTGATGCTTTG	0.522000													12	37					0.000978159	0.00103671	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11540016	11540016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:11540016C>A	ENST00000262442.3	+	9	1769	c.1701C>A	c.(1699-1701)taC>taA	p.Y567*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Y567*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	567	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGATAAATACCTGGTCCTCA	0.458000													37	26					3.93418e-24	6.23257e-24	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234106868	234106868	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:234106868G>T	ENST00000359570.5	+	27	2785	c.2785G>T	c.(2785-2787)Gcc>Tcc	p.A929S	INPP5D_ENST00000450745.1_Missense_Mutation_p.A693S|INPP5D_ENST00000455936.2_Missense_Mutation_p.A693S			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	941	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCAGCCCACAGCCTGGAGCTA	0.637000													7	42					0.000274275	0.000293796	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55110891	55110891	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:55110891C>A	ENST00000314721.2	+	1	265	c.215C>A	c.(214-216)tCc>tAc	p.S72Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72Y(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCCATATATTCCACTGCCATG	0.443000													66	161					1.55545e-33	2.55841e-33	1	1	0
ABAT	18	broad.mit.edu	37	16	8868885	8868885	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:8868885T>C	ENST00000396600.2	+	13	2031	c.1093T>C	c.(1093-1095)Ttc>Ctc	p.F365L	ABAT_ENST00000425191.2_Missense_Mutation_p.F365L|ABAT_ENST00000569156.1_Missense_Mutation_p.F365L|ABAT_ENST00000567812.1_Missense_Mutation_p.F380L|ABAT_ENST00000268251.8_Missense_Mutation_p.F365L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	365					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGGGGGCTTCTTCCACAAGGA	0.557000													4	67					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172232725	172232725	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:172232725C>T	ENST00000241261.2	-	2	318	c.196G>A	c.(196-198)Gac>Aac	p.D66N	TNFSF10_ENST00000420541.2_Missense_Mutation_p.D66N	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	66					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCATTGGGGTCCCAATAACTG	0.448000													44	69					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156268	145156268	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:145156268C>A	ENST00000558170.2	-	8	3670	c.2486G>T	c.(2485-2487)aGt>aTt	p.S829I	ZEB2_ENST00000409487.3_Missense_Mutation_p.S829I|ZEB2_ENST00000303660.4_Missense_Mutation_p.S829I|ZEB2_ENST00000539609.3_Missense_Mutation_p.S805I	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	829						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGCTATAATACTTTTGGGTTC	0.398000													46	76					1.44828e-35	2.40847e-35	1	1	0
ST18	9705	broad.mit.edu	37	8	53092835	53092835	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:53092835C>A	ENST00000276480.7	-	9	807	c.124G>T	c.(124-126)Gct>Tct	p.A42S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	42						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGATCTTCAGCTGTTCTCTTC	0.438000													39	96					3.09479e-21	4.80171e-21	1	1	0
OR9Q1	219956	broad.mit.edu	37	11	57947239	57947239	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:57947239G>C	ENST00000335397.3	+	3	639	c.323G>C	c.(322-324)gGt>gCt	p.G108A		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACCTTCTTTGGTTCCATCGAC	0.557000													22	87					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560848	44560848	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:44560848G>T	ENST00000332567.4	-	1	1140	c.788C>A	c.(787-789)cCa>cAa	p.P263Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	263					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGCATCCTTGGGGTTTCCTC	0.607000													21	43					0.000132079	0.000143264	1	1	0
CLASRP	11129	broad.mit.edu	37	19	45561077	45561077	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:45561077G>A	ENST00000544944.2	+	6	1226	c.534G>A	c.(532-534)gcG>gcA	p.A178A	CLASRP_ENST00000391953.4_Silent_p.A116A|CLASRP_ENST00000221455.3_Silent_p.A178A			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	178					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TAGAGAAGGCGGCAGAAAAGC	0.612000													30	53					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874726	144874726	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:144874726C>T	ENST00000369359.4	-	33	5328	c.5290G>A	c.(5290-5292)Gag>Aag	p.E1764K	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1764K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1628K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1584K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1628K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1628					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.E1628*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTGTGTACTCGCTGACTATG	0.527000			T	PDGFRB	MPD								47	357					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169708	169708	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:169708G>T	ENST00000283426.6	+	12	2711		c.e12+1			NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGACACGTAAGTGCAGG	0.657000													25	68					5.45024e-15	7.83065e-15	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141046008	141046008	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:141046008C>A	ENST00000239440.4	-	17	2620	c.2555G>T	c.(2554-2556)cGg>cTg	p.R852L	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R754L|ARAP3_ENST00000513878.1_Missense_Mutation_p.R514L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	852					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGTAGCCGCCGCAGATGCAC	0.622000													6	8					3.59834e-05	4.01148e-05	1	1	0
DKK2	27123	broad.mit.edu	37	4	107845814	107845814	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:107845814G>T	ENST00000285311.3	-	3	1122	c.417C>A	c.(415-417)atC>atA	p.I139I	DKK2_ENST00000510463.1_Silent_p.I93I|DKK2_ENST00000513208.1_Silent_p.I39I	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	139					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCAGAGCCGGGATGTGAGGGG	0.428000													24	91					2.21704e-12	2.99923e-12	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189936804	189936804	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:189936804G>A	ENST00000374866.3	-	18	1394	c.1120C>T	c.(1120-1122)Cca>Tca	p.P374S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	374					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GAAGAGCCTGGTATCCCAAGA	0.348000													7	17					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159091958	159091958	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:159091958G>T	ENST00000296530.8	-	2	1191	c.570C>A	c.(568-570)gcC>gcA	p.A190A	FAM198B_ENST00000592057.1_Silent_p.A190A|FAM198B_ENST00000393807.5_Silent_p.A190A|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Silent_p.A190A|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	190						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTGGGCCCCCGGCTCGCACTC	0.612000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	19					0.00185496	0.00194884	1	1	0
CAD	790	broad.mit.edu	37	2	27465789	27465789	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:27465789A>G	ENST00000264705.4	+	42	6590	c.6428A>G	c.(6427-6429)tAc>tGc	p.Y2143C	CAD_ENST00000403525.1_Missense_Mutation_p.Y2080C	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2143	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GATGTGCTCTACATGACTCGA	0.582000													18	25					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34671710	34671710	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:34671710C>A	ENST00000374789.3	-	9	1482	c.1157G>T	c.(1156-1158)aGc>aTc	p.S386I	PARD3_ENST00000374776.1_Missense_Mutation_p.S386I|PARD3_ENST00000545260.1_Missense_Mutation_p.S342I|PARD3_ENST00000346874.4_Missense_Mutation_p.S386I|PARD3_ENST00000340077.5_Missense_Mutation_p.S386I|PARD3_ENST00000374790.3_Missense_Mutation_p.S342I|PARD3_ENST00000374794.3_Missense_Mutation_p.S342I|PARD3_ENST00000374773.1_Missense_Mutation_p.S386I|PARD3_ENST00000544292.1_Missense_Mutation_p.S116I|PARD3_ENST00000350537.4_Missense_Mutation_p.S386I|PARD3_ENST00000374788.3_Missense_Mutation_p.S386I|PARD3_ENST00000545693.1_Missense_Mutation_p.S386I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	386					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AATATACTGGCTGTCAGGGCT	0.478000													14	72					3.27435e-08	3.95815e-08	1	1	0
TECTA	7007	broad.mit.edu	37	11	120984388	120984388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:120984388G>T	ENST00000392793.1	+	6	1022	c.751G>T	c.(751-753)Gga>Tga	p.G251*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.G251*			O75443	TECTA_HUMAN	tectorin alpha	251	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TAAAGTTGATGGAAAGGAAAT	0.502000													16	36					1.15088e-07	1.35054e-07	1	1	0
ZNF37A	7587	broad.mit.edu	37	10	38407051	38407051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:38407051G>T	ENST00000351773.3	+	8	1802	c.972G>T	c.(970-972)gaG>gaT	p.E324D	ZNF37A_ENST00000361085.4_Missense_Mutation_p.E324D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	324						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						ATACAGGGGAGAGACCTTATG	0.413000													26	57					3.08376e-08	3.74279e-08	1	1	0
C9	735	broad.mit.edu	37	5	39342272	39342272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:39342272C>A	ENST00000263408.4	-	2	199	c.104G>T	c.(103-105)aGt>aTt	p.S35I	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	35					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGCAGAGCCACTGCTTTCTGT	0.428000													32	34					5.60225e-13	7.73522e-13	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23866407	23866407	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:23866407G>A	ENST00000269142.5	+	7	2532	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S	TAF4B_ENST00000578121.1_Missense_Mutation_p.G512S|TAF4B_ENST00000400466.2_Missense_Mutation_p.G512S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	512	Required for interaction with P65/RELA.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TGCCCAGCCGGGCCCTGTCCT	0.443000													29	227					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163131740	163131740	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:163131740C>A	ENST00000313961.5	-	3	459	c.182G>T	c.(181-183)tGg>tTg	p.W61L	RGS5_ENST00000367903.3_Missense_Mutation_p.W81L|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.W61L	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	61					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGAATCACGCCACTGCAGGGC	0.418000													4	45					0.00909568	0.00937603	1	1	0
CDH2	1000	broad.mit.edu	37	18	25570298	25570298	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:25570298G>T	ENST00000269141.3	-	10	1784	c.1361C>A	c.(1360-1362)aCa>aAa	p.T454K	CDH2_ENST00000399380.3_Missense_Mutation_p.T423K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	454	Cadherin 3.		T -> A (in dbSNP:rs17857112).		adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CATCCTATTTGTTTCAAAGTC	0.408000													71	57					5.61366e-43	9.41343e-43	1	1	0
GNB3	2784	broad.mit.edu	37	12	6953051	6953051	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:6953051C>T	ENST00000229264.3	+	9	1013	c.608C>T	c.(607-609)gCc>gTc	p.A203V	GNB3_ENST00000435982.2_Missense_Mutation_p.A202V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	203					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATTTCGGGGGCCTGTGATGCC	0.562000													18	115					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100994546	100994546	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:100994546T>A	ENST00000193391.7	-	6	814	c.627A>T	c.(625-627)gaA>gaT	p.E209D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	209					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTGAGGCACCTTCATAGGCGT	0.428000													20	50					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16672859	16672859	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:16672859G>A	ENST00000513610.1	-	37	5702	c.5248C>T	c.(5248-5250)Cac>Tac	p.H1750Y	MYO10_ENST00000505695.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000515803.1_Missense_Mutation_p.H1089Y|MYO10_ENST00000274203.9_Missense_Mutation_p.H1107Y|MYO10_ENST00000427430.2_Missense_Mutation_p.H1107Y	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1750	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTGTCGACGTGGCCGTTGTAT	0.493000													5	47					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614103	3614103	+	RNA	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:3614103G>C	ENST00000301749.7	-	0	1240				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGTCCACCAGGCCCCCTGGG	0.592000													18	25					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799453	45799453	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:45799453G>A	ENST00000553795.1	-	4	726	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	OR13A1_ENST00000374401.2_Missense_Mutation_p.R140W|OR13A1_ENST00000536058.1_Missense_Mutation_p.R140W	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCTGCGTACCGGTCATAGGCC	0.617000													10	19					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378050	19378050	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:19378050G>A	ENST00000550708.1	+	1	529	c.457G>A	c.(457-459)Ggg>Agg	p.G153R		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCATGACTGGGCATCTCTG	0.483000													13	259					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401853	89401853	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:89401853A>T	ENST00000439576.2	+	12	6411	c.6037A>T	c.(6037-6039)Aat>Tat	p.N2013Y	ACAN_ENST00000561243.1_Missense_Mutation_p.N2013Y|ACAN_ENST00000352105.7_Missense_Mutation_p.N2013Y|ACAN_ENST00000559004.1_Missense_Mutation_p.N2013Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2013					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCACCACCAATGTAAGTGG	0.522000													8	46					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24423246	24423246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:24423246G>T	ENST00000378386.3	+	10	1282	c.1189G>T	c.(1189-1191)Gga>Tga	p.G397*	MRS2_ENST00000535061.1_Nonsense_Mutation_p.G347*|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_Nonsense_Mutation_p.G106*|MRS2_ENST00000443868.2_Nonsense_Mutation_p.G400*|MRS2_ENST00000378353.1_Nonsense_Mutation_p.G397*	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	397					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TTCATTCCTTGGACGACAGCT	0.473000													58	70					3.84483e-29	6.20534e-29	1	1	0
OR8A1	390275	broad.mit.edu	37	11	124440003	124440003	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:124440003C>G	ENST00000284287.3	+	1	111	c.39C>G	c.(37-39)ccC>ccG	p.P13P		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCAGGCCTCCCACCCAGAGGA	0.522000													19	41					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10254823	10254823	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:10254823G>T	ENST00000280326.4	+	3	624	c.204G>T	c.(202-204)gtG>gtT	p.V68V	CCT5_ENST00000503026.1_Silent_p.V47V|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Silent_p.V30V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	68					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATGGAGATGTGACTGTAACTA	0.408000													45	84					2.00842e-17	3.01513e-17	1	1	0
FPGS	2356	broad.mit.edu	37	9	130569891	130569891	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr9:130569891C>G	ENST00000373245.1	+	8	718	c.668C>G	c.(667-669)tCt>tGt	p.S223C	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.S173C|FPGS_ENST00000393706.2_Missense_Mutation_p.S197C|FPGS_ENST00000373247.2_Missense_Mutation_p.S223C			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	223					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGAGTCTCCTCTCTTGGCATC	0.632000													12	19					0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30860810	30860810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:30860810C>A	ENST00000403066.1	-	9	767	c.484G>T	c.(484-486)Gga>Tga	p.G162*	SEC14L3_ENST00000415957.2_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000402286.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000215812.4_Nonsense_Mutation_p.G221*|SEC14L3_ENST00000539629.1_Nonsense_Mutation_p.G162*|SEC14L3_ENST00000540910.1_Nonsense_Mutation_p.G144*|SEC14L3_ENST00000401751.1_Nonsense_Mutation_p.G162*			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	221	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TACTTACTTCCCAACACAATA	0.468000													37	71					4.00102e-26	6.42297e-26	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186673452	186673452	+	Silent	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:186673452A>T	ENST00000343098.5	+	17	19686	c.19686A>T	c.(19684-19686)acA>acT	p.T6562T	FSIP2_ENST00000424728.1_Silent_p.T6473T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTAACTCAACAATTTCAAATG	0.313000													21	48					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31934831	31934831	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:31934831G>A	ENST00000375394.2	+	20	2504	c.2391G>A	c.(2389-2391)gaG>gaA	p.E797E	SKIV2L_ENST00000544581.1_Silent_p.E604E	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	797						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GAGCTTTGGAGGAGCCTGACA	0.587000													43	33					0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157744	65157744	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:65157744C>T	ENST00000323544.4	+	6	1258	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	377	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCACTGCCCCCCTGGGACCTG	0.622000													17	34					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279797	163279797	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:163279797T>A	ENST00000328032.4	-	8	2393	c.2182A>T	c.(2182-2184)Ata>Tta	p.I728L	KCNH7_ENST00000332142.5_Intron	NM_173162.2	NP_775185.1	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	0					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTTTGGCTATCACTATAATG	0.418000													16	90					0	0	1	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679997	75679997	+	RNA	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:75679997C>A	ENST00000408868.1	+	0	84					NR_031714.1																						TATGCACTTTCCTGGAGGCTC	0.512000													4	55					0.014758	0.0150327	1	1	0
DHX58	79132	broad.mit.edu	37	17	40255747	40255747	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:40255747G>T	ENST00000251642.3	-	12	1855	c.1633C>A	c.(1633-1635)Cag>Aag	p.Q545K		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	545					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAACTGCTGCCGCTGGTTC	0.662000													13	47					9.31168e-06	1.05567e-05	1	1	0
CUTC	51076	broad.mit.edu	37	10	101503044	101503044	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:101503044G>T	ENST00000370476.5	+	4	457	c.328G>T	c.(328-330)Ggt>Tgt	p.G110C	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	110					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CAAGCTTTATGGTGCTGATGG	0.428000													23	94					6.44725e-10	8.24044e-10	1	1	0
SLC2A3	6515	broad.mit.edu	37	12	8074210	8074210	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:8074210G>C	ENST00000075120.7	-	10	1530	c.1290C>G	c.(1288-1290)taC>taG	p.Y430*		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	430					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TAATAAAAACGTAGGCTCCTA	0.403000													24	66					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201470324	201470324	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:201470324C>A	ENST00000374700.2	+	10	1121	c.880C>A	c.(880-882)Ctg>Atg	p.L294M		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	294	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AATTGAAGAACTGAGTGTTGT	0.343000													14	65					0.000219431	0.000236734	1	1	0
G6PC	2538	broad.mit.edu	37	17	41063082	41063082	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:41063082T>C	ENST00000253801.2	+	5	792	c.713T>C	c.(712-714)cTg>cCg	p.L238P	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	238					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTGTGGACTCTGGAGAAAGCC	0.532000													39	21					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747859	68747859	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:68747859C>G	ENST00000309106.3	-	1	596	c.597G>C	c.(595-597)ctG>ctC	p.L199L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	199						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAAAGAGGGTCAGGCTGGACA	0.592000													18	28					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605231	140605231	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140605231G>A	ENST00000239449.4	+	1	2154	c.2154G>A	c.(2152-2154)agG>agA	p.R718R	PCDHB14_ENST00000515856.2_Silent_p.R565R	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		718					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGAGCAGGGCGGCCTCGG	0.672000													33	123					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21119496	21119496	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:21119496C>A	ENST00000255882.6	-	21	2552	c.2466G>T	c.(2464-2466)ggG>ggT	p.G822G	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Silent_p.G764G	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	764					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTTCACAGACCCCCTCGTACC	0.502000													52	124					1.21353e-23	1.91745e-23	1	1	0
SPATA8	145946	broad.mit.edu	37	15	97326909	97326909	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:97326909G>T	ENST00000328504.3	+	1	291	c.24G>T	c.(22-24)ggG>ggT	p.G8G	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	8										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGATGTCAGGGGCCCAGGACA	0.557000													17	28					5.26018e-13	7.2796e-13	1	1	0
MZT2B	80097	broad.mit.edu	37	2	130948089	130948089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:130948089G>T	ENST00000281871.6	+	3	722	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	MZT2B_ENST00000409255.1_Nonsense_Mutation_p.E183*	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	123						centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						GGCCCTGGCGGAACGCAGCAG	0.657000													16	19					1.15088e-07	1.35054e-07	1	1	0
TIPRL	261726	broad.mit.edu	37	1	168148409	168148409	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:168148409G>T	ENST00000367833.2	+	1	239	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	TIPRL_ENST00000367830.3_Missense_Mutation_p.D32Y	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	32					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GAAGTCGGCGGATGTGGAGAA	0.652000													18	23					1.67942e-08	2.06328e-08	1	1	0
SLC17A3	10786	broad.mit.edu	37	6	25850032	25850032	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:25850032C>A	ENST00000397060.4	-	10	1381		c.e10+1		SLC17A3_ENST00000361703.6_Splice_Site|SLC17A3_ENST00000360657.3_Splice_Site	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3						glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGAGTCCTACCTTGGAGCAA	0.413000													14	83					1.5842e-08	1.95829e-08	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87150137	87150137	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:87150137T>A	ENST00000265724.3	-	23	3158	c.2741A>T	c.(2740-2742)cAg>cTg	p.Q914L	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q850L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	914	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCAAACTTCTGCTCCTGAGT	0.413000													26	52					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346913	29346913	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:29346913A>G	ENST00000558402.1	+	5	1425	c.826A>G	c.(826-828)Agg>Ggg	p.R276G	APBA2_ENST00000411764.1_Missense_Mutation_p.R276G|APBA2_ENST00000561069.1_Missense_Mutation_p.R276G|APBA2_ENST00000558330.1_Missense_Mutation_p.R276G|APBA2_ENST00000558259.1_Missense_Mutation_p.R276G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	276					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAGCCCCAGCAGGCACGAGGC	0.677000													5	16					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164564	139164564	+	Silent	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:139164564A>G	ENST00000395297.1	-	13	2324	c.2154T>C	c.(2152-2154)gtT>gtC	p.V718V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	718										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATGTCTTCGAACAAACGGGT	0.562000										HNSCC(54;0.14)			22	38					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115584235	115584235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:115584235G>A	ENST00000371900.4	+	9	1301	c.1213G>A	c.(1213-1215)Ggt>Agt	p.G405S		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	405					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACTCCCAGGTGGTCCATTTTG	0.363000													19	29					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101374870	101374870	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:101374870T>C	ENST00000344327.3	-	2	1254	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	TRPC6_ENST00000532133.1_Missense_Mutation_p.Y277C|TRPC6_ENST00000348423.4_Missense_Mutation_p.Y277C|TRPC6_ENST00000360497.4_Missense_Mutation_p.Y277C	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	277					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CAGGCCTTTATAGGCATTAAT	0.448000													23	180					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144464083	144464083	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:144464083C>T	ENST00000289013.6	+	14	1843	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	606	PDZ.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCGGGAGAGGCGGGCGCCAGC	0.672000													3	19					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913130	143913130	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:143913130T>A	ENST00000409869.1	+	3	248	c.71T>A	c.(70-72)gTg>gAg	p.V24E	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.V24E			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	24					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACAGGAGCTGTGCAAATGAGA	0.423000													22	30					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587496	70587496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:70587496G>T	ENST00000310961.5	+	27	4832	c.4414G>T	c.(4414-4416)Gaa>Taa	p.E1472*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.E1514*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E798*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1514	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATGGAACATGAAAAAGCTGT	0.318000													36	60					3.76114e-14	5.31503e-14	1	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51656387	51656387	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:51656387G>A	ENST00000317643.6	+	7	1358	c.1289G>A	c.(1288-1290)gGg>gAg	p.G430E	SIGLEC7_ENST00000600577.1_3'UTR|CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G337E	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	430					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CACTCCTCAGGGGAGGAAAGA	0.542000													53	109					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31355344	31355344	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:31355344C>T	ENST00000542188.1	-	7	1306	c.993G>A	c.(991-993)gcG>gcA	p.A331A	TRPM1_ENST00000397795.2_Silent_p.A292A|TRPM1_ENST00000256552.6_Silent_p.A314A	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	292					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTACTTGTGCGCAAAGGACA	0.547000													15	41					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13041496	13041496	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:13041496C>G	ENST00000588025.1	-	3	475	c.335G>C	c.(334-336)cGg>cCg	p.R112P	FARSA_ENST00000314606.4_Missense_Mutation_p.R72P|FARSA_ENST00000423140.2_Missense_Mutation_p.R72P|CTC-425F1.2_ENST00000592636.1_RNA			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	72					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GCTGCCCTCCCGGGCAATCTC	0.627000													4	29					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074344	54074344	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:54074344C>A	ENST00000373970.3	+	1	289	c.150C>A	c.(148-150)ggC>ggA	p.G50G		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	50					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CACCGCTGGGCGGCGCTGCGG	0.647000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0.00010058	0.000109294	1	1	0
DSG3	1830	broad.mit.edu	37	18	29039000	29039000	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr18:29039000C>A	ENST00000257189.4	+	5	460	c.377C>A	c.(376-378)aCa>aAa	p.T126K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	126	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.T126K(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCTAGATCACATGTCGGGCT	0.363000													31	32					2.70662e-09	3.40164e-09	1	1	0
LCE3B	353143	broad.mit.edu	37	1	152586355	152586355	+	Silent	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:152586355A>G	ENST00000335633.1	+	1	69	c.69A>G	c.(67-69)ccA>ccG	p.P23P		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	23	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGTGCCCCCCAAAGAGCTCAG	0.632000													39	43					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4810267	4810267	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:4810267A>T	ENST00000354582.6	+	45	6103	c.5753A>T	c.(5752-5754)aAa>aTa	p.K1918I	ITPR1_ENST00000423119.2_Missense_Mutation_p.K1885I|ITPR1_ENST00000357086.4_Missense_Mutation_p.K1885I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.K1918I|ITPR1_ENST00000456211.2_Missense_Mutation_p.K1870I|ITPR1_ENST00000302640.8_Missense_Mutation_p.K1918I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1933					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCACCAGGAAAGCCTTCACC	0.587000													8	77					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033808	228033808	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:228033808A>G	ENST00000366757.3	+	5	904	c.880A>G	c.(880-882)Atc>Gtc	p.I294V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	294					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TAACATAGAAATCACGCCCAC	0.557000													15	62					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32949131	32949131	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:32949131T>C	ENST00000340811.4	-	11	2377	c.2269A>G	c.(2269-2271)Aac>Gac	p.N757D	PKP2_ENST00000070846.6_Missense_Mutation_p.N801D	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	801					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGATTATGTTGTTCAATGTG	0.458000													22	49					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177143571	177143571	+	Splice_Site	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:177143571C>A	ENST00000296525.3	-	3	390	c.276_splice	c.e3-1	p.G93_splice	ASB5_ENST00000512254.1_Splice_Site_p.G40_splice|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	93					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACATTATAACCCTAAATGTGG	0.398000													4	46					0.014758	0.0150327	1	1	0
TMCO3	55002	broad.mit.edu	37	13	114150319	114150319	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr13:114150319C>T	ENST00000434316.2	+	2	782	c.423C>T	c.(421-423)gcC>gcT	p.A141A	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.A141A	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	141						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GCCTGGAGGCCCTGAGAGAGG	0.567000													6	9					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52322092	52322092	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:52322092G>T	ENST00000356297.4	-	17	2192	c.2092C>A	c.(2092-2094)Cgc>Agc	p.R698S	PXDNL_ENST00000543296.1_Missense_Mutation_p.R698S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	698					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGAGGGAGCGCGGGGACACC	0.607000													7	27					1.12685e-05	1.27034e-05	1	1	0
LALBA	3906	broad.mit.edu	37	12	48962359	48962359	+	Silent	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:48962359G>A	ENST00000549817.1	-	3	354	c.309C>T	c.(307-309)gaC>gaT	p.D103D	LALBA_ENST00000301046.2_Silent_p.D103D			P00709	LALBA_HUMAN	lactalbumin, alpha-	103					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						CATCAGTAATGTCATCATCCA	0.433000													16	94					0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18731233	18731233	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:18731233C>A	ENST00000600490.1	+	9	1101	c.916C>A	c.(916-918)Cag>Aag	p.Q306K	TMEM59L_ENST00000262817.3_Missense_Mutation_p.Q306K			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	306						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GACCCTGGAGCAGCACAAGGG	0.642000													5	28					0.184627	0.185243	1	1	0
TRPM4	54795	broad.mit.edu	37	19	49671869	49671869	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:49671869C>T	ENST00000252826.5	+	6	798	c.672C>T	c.(670-672)ccC>ccT	p.P224P	TRPM4_ENST00000427978.2_Silent_p.P224P|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	224					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCCAGTTTCCCCTGGACTACA	0.652000													12	32					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)			36	40					2.75727e-19	4.19161e-19	1	1	0
CLEC4G	339390	broad.mit.edu	37	19	7794707	7794707	+	Splice_Site	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:7794707C>T	ENST00000328853.5	-	8	811	c.743_splice	c.e8+1	p.S248_splice		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	248	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						TTTCCCTCACCTGAAGCTGAG	0.622000													24	21					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9459603	9459603	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:9459603C>A	ENST00000378501.2	+	36	3547	c.3532C>A	c.(3532-3534)Cga>Aga	p.R1178R	PLCB4_ENST00000414679.2_Silent_p.A1177A|PLCB4_ENST00000378493.1_Silent_p.A1165A|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.R1178R|PLCB4_ENST00000378473.3_Silent_p.A1177A|PLCB4_ENST00000278655.4_Silent_p.A1165A	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATTGGAAGCCGAGATGGACC	0.443000													6	24					8.12818e-05	8.88052e-05	1	1	0
ZNF10	7556	broad.mit.edu	37	12	133732504	133732504	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:133732504C>T	ENST00000248211.6	+	5	894	c.672C>T	c.(670-672)caC>caT	p.H224H	ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000402932.2_Intron|ZNF10_ENST00000426665.2_Silent_p.H224H	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	224				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAAACATTCACCTTATTCAGT	0.348000													11	50					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94046493	94046493	+	Splice_Site	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:94046493A>T	ENST00000553484.1	+	19	2587		c.e19-1		UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)							integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATGTCTTTCAGATGGAGTTA	0.398000													25	31					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174781	150174781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:150174781G>T	ENST00000307271.3	+	5	2485	c.1911G>T	c.(1909-1911)caG>caT	p.Q637H		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	637						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCCATACACAGGAGAACGTCA	0.423000													32	76					4.66903e-05	5.15735e-05	1	1	0
CATSPER3	347732	broad.mit.edu	37	5	134345148	134345148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:134345148C>T	ENST00000282611.6	+	6	990	c.904C>T	c.(904-906)Cag>Tag	p.Q302*		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	302					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGCGGCAGCAGGAGGAGAT	0.562000													12	63					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51005287	51005287	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:51005287T>C	ENST00000396153.2	-	14	1833	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S	FAF1_ENST00000371778.4_Missense_Mutation_p.N461S|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Missense_Mutation_p.N219S	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	461					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CAACACTTCATTAGATGATCG	0.398000													9	33					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466763	51466763	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:51466763C>A	ENST00000376851.3	-	4	679	c.240G>T	c.(238-240)agG>agT	p.R80S	KLK6_ENST00000424910.2_Missense_Mutation_p.G28V|KLK6_ENST00000391808.1_5'UTR|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.R80S|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.R80S	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	80	Peptidase S1.	Cleavage; by autolysis.			amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGGAACTCTCCCTTTGCCGAA	0.582000													4	57					1.76689e-08	2.15318e-08	1	1	0
GPR112	139378	broad.mit.edu	37	X	135405179	135405179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:135405179G>T	ENST00000394143.1	+	5	604	c.313G>T	c.(313-315)Gga>Tga	p.G105*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.G42*|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.G105*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	105					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATACAGATTGGGAAAGACCTT	0.438000													70	44					5.61366e-43	9.41343e-43	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86377098	86377098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:86377098C>A	ENST00000370571.2	-	25	2947	c.2581G>T	c.(2581-2583)Gga>Tga	p.G861*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.G861*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	861	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAACTTCTCCAGGTAAGCCA	0.343000													37	70					9.88483e-10	1.25541e-09	1	1	0
SPEG	10290	broad.mit.edu	37	2	220333962	220333962	+	Silent	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:220333962G>T	ENST00000312358.7	+	13	3708	c.3576G>T	c.(3574-3576)cgG>cgT	p.R1192R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1192	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACTTCCTGCGGCCACTGCAGG	0.627000													9	24					0.000274275	0.000293796	1	1	0
KLHL22	84861	broad.mit.edu	37	22	20819800	20819800	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr22:20819800G>C	ENST00000328879.4	-	4	613	c.457C>G	c.(457-459)Ctc>Gtc	p.L153V	KLHL22_ENST00000440659.2_Missense_Mutation_p.L10V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	153					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TAGACATCGAGAATGTTCTCT	0.502000													36	60					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145725977	145725977	+	Silent	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:145725977C>A	ENST00000292539.4	+	7	1730	c.813C>A	c.(811-813)gcC>gcA	p.A271A	PPP1R16A_ENST00000435887.1_Silent_p.A271A			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	271						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCTGCACGCCGCGGCCTACT	0.721000													10	15					2.80697e-09	3.51309e-09	1	1	0
PDGFRB	5159	broad.mit.edu	37	5	149505025	149505025	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:149505025C>A	ENST00000261799.4	-	12	2259	c.1790G>T	c.(1789-1791)cGg>cTg	p.R597L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	597					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.R597Q(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGCTGGTCCCGCGGCAGCTC	0.597000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								6	35					0.00116845	0.00123188	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10602767	10602767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:10602767C>A	ENST00000171111.5	-	3	1358	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.V271L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	271	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGCAGCGCACGGCCCGCAGC	0.617000													24	25					1.1804e-14	1.68388e-14	1	1	0
FAT1	2195	broad.mit.edu	37	4	187525712	187525712	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:187525712C>A	ENST00000441802.2	-	18	10576	c.10367G>T	c.(10366-10368)gGc>gTc	p.G3456V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3456	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACGCTGAAGCCCACTGGCTT	0.398000										HNSCC(5;0.00058)			4	15					0.00909568	0.00937603	1	1	0
TM2D3	80213	broad.mit.edu	37	15	102191914	102191914	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:102191914C>A	ENST00000333202.3	-	2	159	c.154G>T	c.(154-156)Gtt>Ttt	p.V52F	TM2D3_ENST00000559107.1_Missense_Mutation_p.V52F|TM2D3_ENST00000347970.3_Intron|TM2D3_ENST00000428002.2_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	52						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCCTGGGAACTACTGTGAAT	0.388000													24	110					3.01185e-09	3.7539e-09	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40790168	40790168	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:40790168C>A	ENST00000373198.3	-	18	2807	c.2572G>T	c.(2572-2574)Ggg>Tgg	p.G858W	PTPRT_ENST00000373193.3_Missense_Mutation_p.G839W|PTPRT_ENST00000356100.2_Missense_Mutation_p.G845W|PTPRT_ENST00000373201.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373184.1_Missense_Mutation_p.G826W|PTPRT_ENST00000373187.1_Missense_Mutation_p.G836W|PTPRT_ENST00000373190.1_Missense_Mutation_p.G835W	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	836					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S856fs*21(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAAAGCTCCCCGCGGCTGCCA	0.592000													25	55					7.87624e-14	1.11042e-13	1	1	0
VWA3B	200403	broad.mit.edu	37	2	98744862	98744862	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:98744862C>A	ENST00000477737.1	+	6	1067	c.863C>A	c.(862-864)aCc>aAc	p.T288N	VWA3B_ENST00000435344.1_Missense_Mutation_p.T288N|VWA3B_ENST00000451075.2_Missense_Mutation_p.T138N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	288										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGTGCCAAGACCCACAGCAGG	0.522000													21	30					3.62473e-10	4.66258e-10	1	1	0
COPA	1314	broad.mit.edu	37	1	160283840	160283840	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:160283840T>A	ENST00000241704.7	-	9	1011	c.782A>T	c.(781-783)cAa>cTa	p.Q261L	COPA_ENST00000368069.3_Missense_Mutation_p.Q261L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	261					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATCAACTCTTGGCGAGGGTG	0.463000													30	29					0	0	1	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612708	228612708	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:228612708C>T	ENST00000366696.1	-	1	318	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	107					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AGGTTGGTGTCCTCAAACAGC	0.617000													15	77					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26446316	26446316	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:26446316G>C	ENST00000265944.5	+	26	3037	c.2871G>C	c.(2869-2871)gaG>gaC	p.E957D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	957	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAATAGTGAGCGTCAGGCAA	0.398000													19	46					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573272	57573272	+	Silent	SNP	C	C	T	rs141892093	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:57573272C>T	ENST00000243077.3	+	29	5365	c.4899C>T	c.(4897-4899)gaC>gaT	p.D1633D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1633					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTGGTCTGACGTGCGGACAC	0.592000													18	46					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48232097	48232097	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:48232097C>T	ENST00000394747.1	-	15	2521	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G	ABCC11_ENST00000537808.1_Silent_p.G724G|ABCC11_ENST00000394748.1_Silent_p.G724G|ABCC11_ENST00000353782.5_Silent_p.G724G|ABCC11_ENST00000356608.2_Silent_p.G724G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	724	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGCATATTTCCCCTTTTTCT	0.473000													36	38					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12725670	12725670	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:12725670T>A	ENST00000380682.1	+	13	1876	c.1370T>A	c.(1369-1371)cTg>cAg	p.L457Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	457	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAACCAATCTGGTGGCTCTT	0.512000													46	34					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1827787	1827787	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:1827787A>G	ENST00000170168.4	-	2	1095	c.1001T>C	c.(1000-1002)cTg>cCg	p.L334P	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	334						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCTCCCGCAGGCCGCCCCC	0.726000													6	4					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1471285	1471285	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:1471285G>A	ENST00000331035.4	+	6	851	c.502G>A	c.(502-504)Gat>Aat	p.D168N	IL3RA_ENST00000381469.2_Missense_Mutation_p.D90N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	168						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGTCGTTTCGATGACATCTC	0.557000													68	79					0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139225158	139225158	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:139225158A>T	ENST00000422142.2	+	3	429	c.357A>T	c.(355-357)agA>agT	p.R119S		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	119	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					AGGAACCCAGAGACTGGAACA	0.602000													4	11					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812830	141812830	+	Splice_Site	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:141812830T>A	ENST00000389484.3	-	10	2380		c.e10-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.?(1)		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)		GGCTTCTGACTACAACAAATA	0.398000										TSP Lung(27;0.18)			14	35					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192973578	192973578	+	Splice_Site	SNP	G	G	T	rs149064282	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:192973578G>T	ENST00000264735.2	+	2	548	c.454_splice	c.e2+1	p.D152_splice	HRASLS_ENST00000602513.1_Splice_Site_p.D47_splice	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	47										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		AGCACCTGTAGGTGAGGTTTA	0.448000													54	57					3.73128e-16	5.45202e-16	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30318686	30318686	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:30318686G>T	ENST00000375377.1	-	3	492	c.391C>A	c.(391-393)Cac>Aac	p.H131N		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	131										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGTTTTCGTGCTCCCTCGGC	0.607000													27	112					7.92952e-12	1.06079e-11	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46332379	46332379	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:46332379C>T	ENST00000245934.7	-	14	2078	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	612					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGCCCGCACATCCTCCAGG	0.637000													37	51					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905851	57905851	+	Silent	SNP	C	C	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:57905851C>G	ENST00000262644.4	-	1	552	c.294G>C	c.(292-294)acG>acC	p.T98T		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	98						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CTCCCTCGCGCGTCTTCCCCT	0.657000													11	18					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997430	144997430	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:144997430G>A	ENST00000322810.4	-	31	7247	c.7078C>T	c.(7078-7080)Cgc>Tgc	p.R2360C	PLEC_ENST00000398774.2_Missense_Mutation_p.R2191C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2223C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2227C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2246C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2223C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2250C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2201C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2209C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2360	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTGGCTGCGCTGGCGTGCG	0.652000													5	32					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108057231	108057231	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:108057231G>A	ENST00000278612.8	-	8	809	c.704C>T	c.(703-705)cCa>cTa	p.P235L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	235	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAAAGCGTTTGGATCTTGGAA	0.328000													29	44					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48801538	48801538	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:48801538C>A	ENST00000315396.7	-	11	1871	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	397										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCTTGACCCCAAGGAGGTCA	0.602000													12	71					0.00010058	0.000109294	1	1	0
C11orf84	144097	broad.mit.edu	37	11	63594606	63594606	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:63594606G>T	ENST00000294244.4	+	6	1440	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	381										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGGAATGGAGTGTAAATTCT	0.587000													19	21					5.35267e-07	6.20868e-07	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45784046	45784046	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr21:45784046G>T	ENST00000397928.1	+	3	749	c.304G>T	c.(304-306)Gct>Tct	p.A102S	TRPM2_ENST00000300482.5_Missense_Mutation_p.A102S|TRPM2_ENST00000397932.2_Missense_Mutation_p.A102S|TRPM2_ENST00000300481.9_Missense_Mutation_p.A102S	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	102						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTTGGAGGAGGCTACCAAGCC	0.587000													4	45					0.00909568	0.00937603	1	1	0
MIR520H	574493	broad.mit.edu	37	19	54245850	54245850	+	RNA	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr19:54245850G>C	ENST00000385126.1	+	0	85					NR_030215.1																						GTTACTGTTTGGGAAAAGCAG	0.403000													13	47					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029263	32029263	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr6:32029263C>A	ENST00000375244.3	-	21	7604	c.7403G>T	c.(7402-7404)gGc>gTc	p.G2468V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2468V			P22105	TENX_HUMAN	tenascin XB	2528					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						AGGCTCCAGGCCCCCCACGGT	0.687000													59	43					3.53049e-34	5.83888e-34	1	1	0
PDE6B	5158	broad.mit.edu	37	4	647648	647648	+	Translation_Start_Site	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:647648T>A	ENST00000429163.2	+	0	148				PDE6B_ENST00000255622.6_Missense_Mutation_p.L240Q|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.L240Q	NM_001145292.1	NP_001138764.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta						cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGGTGCTGCTGTGGTCGGCC	0.622000													3	44					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103432	53103432	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:53103432T>C	ENST00000408890.4	+	1	84	c.68T>C	c.(67-69)cTg>cCg	p.L23P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	23								p.L23R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GAACCCCTGCTGCAAGGCCCC	0.711000													9	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237780595	237780595	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:237780595C>A	ENST00000366574.2	+	38	6042	c.5725C>A	c.(5725-5727)Ctg>Atg	p.L1909M	RYR2_ENST00000360064.6_Missense_Mutation_p.L1907M|RYR2_ENST00000542537.1_Missense_Mutation_p.L1893M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1909	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTGCCTACTGCTTCAGTA	0.388000													3	23					0.004672	0.00486599	1	1	0
CCDC108	255101	broad.mit.edu	37	2	219895442	219895442	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:219895442T>A	ENST00000341552.5	-	9	1213	c.1130A>T	c.(1129-1131)gAg>gTg	p.E377V	CCDC108_ENST00000409865.3_Missense_Mutation_p.E366V|CCDC108_ENST00000453220.1_Missense_Mutation_p.E377V|CCDC108_ENST00000441968.1_Missense_Mutation_p.E377V|CCDC108_ENST00000410037.1_Missense_Mutation_p.E312V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	377						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATCTGCCTCTCCGAGGTGCA	0.602000													13	43					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379409	220379409	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:220379409G>C	ENST00000358078.4	+	1	358	c.344G>C	c.(343-345)gGc>gCc	p.G115A	ASIC4_ENST00000347842.3_Missense_Mutation_p.G115A|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	115						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GAGGGACAGGGCAGGGAGGCT	0.612000													5	33					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992542	19992542	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:19992542G>T	ENST00000289753.1	+	1	763	c.296G>T	c.(295-297)tGc>tTc	p.C99F		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	99					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGCGGCCTCTGCCTGCTCTGG	0.667000													20	43					1.56452e-12	2.12606e-12	1	1	0
TRAV8-6	28680	broad.mit.edu	37	14	22446888	22446888	+	RNA	SNP	C	C	T	rs2075483	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr14:22446888C>T	ENST00000390443.3	+	0	190																											CCGCCCAGCTCAAGGTCCTGC	0.532000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	84					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933226	83933226	+	Silent	SNP	T	T	C	rs138172246		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:83933226T>C	ENST00000345382.2	-	4	862	c.777A>G	c.(775-777)tcA>tcG	p.S259S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.S252S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	259					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTCGGGCAATGACCCTATCA	0.502000													15	66					0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594069	9594069	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:9594069C>A	ENST00000287585.6	-	2	580	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	99						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GAGAGCAGCACGAAGAAGGCG	0.632000													17	34					3.52763e-06	4.02967e-06	1	1	0
SORL1	6653	broad.mit.edu	37	11	121489536	121489536	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:121489536G>T	ENST00000260197.7	+	42	5787	c.5658G>T	c.(5656-5658)aaG>aaT	p.K1886N	SORL1_ENST00000534286.1_Missense_Mutation_p.K796N|SORL1_ENST00000527934.1_Missense_Mutation_p.K501N|SORL1_ENST00000532694.1_Missense_Mutation_p.K732N|SORL1_ENST00000525532.1_Missense_Mutation_p.K830N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1886	Fibronectin type-III 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCAACCCGAAGAGCTTGACTA	0.443000													116	141					9.06123e-46	1.52797e-45	1	1	0
CEP70	80321	broad.mit.edu	37	3	138244343	138244343	+	Silent	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:138244343C>T	ENST00000264982.3	-	11	1199	c.933G>A	c.(931-933)aaG>aaA	p.K311K	CEP70_ENST00000489254.1_Silent_p.K159K|CEP70_ENST00000484888.1_Silent_p.K311K|CEP70_ENST00000481834.1_Silent_p.K311K|CEP70_ENST00000542237.1_Silent_p.K291K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	311					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TGACGTTTTTCTTAAGGGCTT	0.229000													7	42					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940853	144940853	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:144940853G>C	ENST00000525985.1	-	2	6640	c.6569C>G	c.(6568-6570)gCc>gGc	p.A2190G				P58107	EPIPL_HUMAN	epiplakin 1	2190						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGATTATGGCTGAGCTGAG	0.542000													26	287					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139753	50139753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr20:50139753G>A	ENST00000371564.3	-	2	1246	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	NFATC2_ENST00000414705.1_Missense_Mutation_p.R323C|NFATC2_ENST00000396009.3_Missense_Mutation_p.R343C	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	343					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TAGATGTGGCGAGGCAGGCCG	0.682000													44	75					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418879	178418879	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:178418879G>A	ENST00000231188.5	-	2	888	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GRM6_ENST00000517717.1_Missense_Mutation_p.S237F	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	237					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AGCCTCTCGGGAGATCTGAAC	0.622000													9	31					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320915	27320915	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:27320915C>T	ENST00000407991.1	-	6	1653	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	CHRNA2_ENST00000520933.2_Missense_Mutation_p.V349M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.V334M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	349						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACATTGAGCACGAAGACGGTG	0.627000													14	80					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065337	55065337	+	RNA	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:55065337G>T	ENST00000526016.1	-	0	371					NR_038174.2																						TCACTTACCCGGCGTTCCTCA	0.483000													9	33					5.68852e-11	7.47706e-11	1	1	0
GLDN	342035	broad.mit.edu	37	15	51689763	51689763	+	Missense_Mutation	SNP	G	G	T	rs143383924	byFrequency	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:51689763G>T	ENST00000335449.6	+	6	841	c.785G>T	c.(784-786)cGg>cTg	p.R262L	GLDN_ENST00000396399.2_Missense_Mutation_p.R138L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	262	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AAAGGCCCTCGGCAGCCAAGC	0.642000													5	29					0.014758	0.0150327	1	1	0
EFHB	151651	broad.mit.edu	37	3	19975305	19975305	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:19975305C>A	ENST00000295824.9	-	1	367	c.206G>T	c.(205-207)gGg>gTg	p.G69V	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	69					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CATTTCAAGCCCCTTGCTCAA	0.458000													34	79					1.62565e-12	2.20414e-12	1	1	0
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr13:48947629G>T	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	53					1.04121e-07	1.23631e-07	1	1	0
TENM3	55714	broad.mit.edu	37	4	183714045	183714045	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr4:183714045G>T	ENST00000511685.1	+	26	6343	c.6220G>T	c.(6220-6222)Gta>Tta	p.V2074L	TENM3_ENST00000406950.2_Missense_Mutation_p.V2074L					teneurin transmembrane protein 3																		TTCTACAGCTGTAATGACCTA	0.358000													18	25					1.02788e-11	1.369e-11	1	1	0
FZD1	8321	broad.mit.edu	37	7	90895895	90895895	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:90895895G>T	ENST00000287934.2	+	1	2113	c.1700G>T	c.(1699-1701)cGc>cTc	p.R567L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	567					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGTGGGAACGCAGCTGGGTG	0.667000													16	33					1.15088e-07	1.35054e-07	1	1	0
GJA8	2703	broad.mit.edu	37	1	147380710	147380710	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:147380710delT	ENST00000240986.4	+	2	681	c.628delT	c.(628-630)tgfs	p.L210fs	GJA8_ENST00000369235.1_Frame_Shift_Del_p.L210fs	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	210					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCTGTTCATGTTGTCTGTGGC	0.602													27	91	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152084417	152084418	+	In_Frame_Ins	INS	-	-	CTC			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:152084417_152084418insCTC	ENST00000368804.1	-	2	1274_1275	c.1275_1276insGAG	c.(1273-1278)ctggcg>ctGAGggcg	p.425_426LA>LRA		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	425	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.|9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctcGCGCCTCAGCTGCTGCT	0.693													7	47	---	---	---	---					
RPS10P7	376693	broad.mit.edu	37	1	201489731	201489731	+	RNA	DEL	G	G	-	rs4915234	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:201489731delG	ENST00000441932.1	+	0	1901				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						AAAAAaaaaagaaagaaagct	0.423													3	5	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208201379	208201383	+	Frame_Shift_Del	DEL	GAGTA	GAGTA	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr1:208201379_208201383delGAGTA	ENST00000367033.3	-	31	6317_6321	c.5560_5564delTACTC	c.(5560-5565)cfs	p.YS1854fs	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1854					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTGACATAGGAGTAGATCTCATTG	0.556													47	73	---	---	---	---					
AQP12A	375318	broad.mit.edu	37	2	241631786	241631786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr2:241631786delG	ENST00000429564.1	+	2	518	c.455delG	c.(454-456)acfs	p.S153fs	AQP12A_ENST00000337801.4_Frame_Shift_Del_p.S141fs			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	141						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGAGCTGCAGCTCGGCCCTG	0.692													2	4	---	---	---	---					
OR5K3	403277	broad.mit.edu	37	3	98109624	98109625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:98109624_98109625insT	ENST00000383695.1	+	1	115_116	c.115_116insT	c.(115-117)ggtfs	p.G39fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TCTGATCACCATGGTGGGGAAC	0.416													88	217	---	---	---	---					
NEK11	79858	broad.mit.edu	37	3	130852765	130852766	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr3:130852765_130852766delGA	ENST00000383366.4	+	7	905_906	c.612_613delGA	c.(610-615)ctaafs	p.LK204fs	NEK11_ENST00000429253.2_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000507910.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.LK56fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.LK204fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	204	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTGAGGCTCTGAAACACCAAGG	0.446													11	96	---	---	---	---					
LNPEP	4012	broad.mit.edu	37	5	96314964	96314964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:96314964delC	ENST00000231368.5	+	2	834	c.142delC	c.(142-144)ccfs	p.P48fs	LNPEP_ENST00000395770.3_Frame_Shift_Del_p.P34fs	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	48					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GGAATATGAGCCCCGGGGTTC	0.498													18	69	---	---	---	---					
PCDHGB3	56102	broad.mit.edu	37	5	140751138	140751138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr5:140751138delA	ENST00000576222.1	+	1	1308	c.1177delA	c.(1177-1179)aafs	p.K393fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCTTTAAAATCGTTCA	0.458													10	38	---	---	---	---					
HOXA3	3200	broad.mit.edu	37	7	27148281	27148282	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:27148281_27148282delGC	ENST00000396352.4	-	3	783_784	c.584_585delGC	c.(583-585)cfs	p.R195fs	HOXA3_ENST00000317201.2_Frame_Shift_Del_p.R195fs|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	195					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGTAGGCCGTGCGCGCGCGCTT	0.683													28	65	---	---	---	---					
AMPH	273	broad.mit.edu	37	7	38433710	38433710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:38433710delG	ENST00000356264.2	-	18	1718	c.1503delC	c.(1501-1503)gcfs	p.A501fs	AMPH_ENST00000325590.5_Frame_Shift_Del_p.A459fs|AMPH_ENST00000428293.2_Frame_Shift_Del_p.A459fs|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	501					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTCCTTCCCCGGCAGGGACAG	0.577													42	109	---	---	---	---					
GRM8	2918	broad.mit.edu	37	7	126882938	126882938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:126882938delA	ENST00000339582.2	-	2	1129	c.321delT	c.(319-321)tcfs	p.S107fs	GRM8_ENST00000358373.3_Frame_Shift_Del_p.S107fs|GRM8_ENST00000444921.2_Frame_Shift_Del_p.S107fs|GRM8_ENST00000405249.1_Frame_Shift_Del_p.S107fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	107					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGTGTCCCTAGAGCACGTGT	0.478										HNSCC(24;0.065)			24	60	---	---	---	---					
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)cfs	p.L418fs	FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.530													5	2	---	---	---	---					
LRRCC1	85444	broad.mit.edu	37	8	86021877	86021878	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr8:86021877_86021878insT	ENST00000414626.2	+	1	981_982	c.92_93insT	c.(91-93)ctgfs	p.L31fs	LRRCC1_ENST00000360375.3_Frame_Shift_Ins_p.L51fs			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	51					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						GTCAATCTTCATTGCAATAACA	0.282													13	24	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								10	136	---	---	---	---					
ITPRIP	85450	broad.mit.edu	37	10	106075158	106075159	+	Frame_Shift_Ins	INS	-	-	G	rs3802671	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr10:106075158_106075159insG	ENST00000278071.2	-	3	1103_1104	c.651_652insC	c.(649-654)ccagccfs	p.A218fs	ITPRIP_ENST00000337478.1_Frame_Shift_Ins_p.A218fs|ITPRIP_ENST00000358187.2_Frame_Shift_Ins_p.A218fs	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	218						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTAGGGCTCGGGGGGTGTGA	0.644													8	33	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)del	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635													3	3	---	---	---	---					
SF1	7536	broad.mit.edu	37	11	64536718	64536718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr11:64536718delC	ENST00000377390.3	-	7	1093	c.756delG	c.(754-756)ggfs	p.G252fs	SF1_ENST00000422298.2_Frame_Shift_Del_p.G137fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.G226fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000377394.3_Frame_Shift_Del_p.G252fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.G377fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.G252fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.G252fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	252					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCCGAAGGGTCCCATTTAAGC	0.463													47	86	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57970143	57970143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr12:57970143delC	ENST00000455537.2	+	19	2454	c.2180delC	c.(2179-2181)acfs	p.T727fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.T638fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	727					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGCAGAAGACCATTGATGAG	0.597													16	26	---	---	---	---					
AQP9	366	broad.mit.edu	37	15	58476198	58476199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr15:58476198_58476199insT	ENST00000219919.4	+	6	1122_1123	c.752_753insT	c.(751-753)cttfs	p.L251fs	AQP9_ENST00000536493.1_Frame_Shift_Ins_p.L251fs|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Frame_Shift_Ins_p.L186fs	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	251					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GTAGTGGGCCCTTTGGTTGGTG	0.441													38	160	---	---	---	---					
CCDC78	124093	broad.mit.edu	37	16	773872	773872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:773872delC	ENST00000293889.6	-	11	1223	c.1118delG	c.(1117-1119)gafs	p.G373fs		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	373										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTGATGTTCCCCCCTGGGA	0.642													4	6	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													4	5	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11515094	11515094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr17:11515094delG	ENST00000262442.3	+	4	969	c.901delG	c.(901-903)cafs	p.A302fs	DNAH9_ENST00000579828.1_Frame_Shift_Del_p.A301fs|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Frame_Shift_Del_p.A302fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	302	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATGTTGTTGCAGGTGAGGA	0.463													32	31	---	---	---	---					
ZHX3	23051	broad.mit.edu	37	20	39832375	39832376	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr20:39832375_39832376insG	ENST00000309060.3	-	4	1596_1597	c.1181_1182insC	c.(1180-1182)cctfs	p.P394fs	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000432768.2_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000540170.1_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000560361.1_Frame_Shift_Ins_p.P394fs|ZHX3_ENST00000559234.1_Frame_Shift_Ins_p.P394fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	394	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGGCGACGAGTGGGGTATTTAG	0.554													35	69	---	---	---	---					
ANKRD20A18P	391269	broad.mit.edu	37	21	15441192	15441193	+	RNA	INS	-	-	T	rs148464975		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr21:15441192_15441193insT	ENST00000428809.1	+	0	177																											TGTATTTTGAATTCTTGGAATT	0.361													7	99	---	---	---	---					
MX2	4600	broad.mit.edu	37	21	42775222	42775222	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chr21:42775222delG	ENST00000330714.3	+	12	1786	c.1602delG	c.(1600-1602)gtfs	p.V534fs		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	534					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCATTAACGTGGCCAAAAAAC	0.383													10	36	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269243	30269243	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:30269243delG	ENST00000378981.3	+	4	954	c.633delG	c.(631-633)aafs	p.K211fs	MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.K211fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.K211fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	211	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTTCTTAAAGGGCAACTCTG	0.478													16	6	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	94563be5-dde7-4c55-bc6e-14f2a1243839	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													3	2	---	---	---	---					
GJA8	2703	broad.mit.edu	37	1	147380710	147380710	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:147380710delT	ENST00000240986.4	+	2	681	c.628delT	c.(628-630)tgfs	p.L210fs	GJA8_ENST00000369235.1_Frame_Shift_Del_p.L210fs	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	210					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCTGTTCATGTTGTCTGTGGC	0.602													27	91	---	---	---	---					
RPS10P7	376693	broad.mit.edu	37	1	201489731	201489731	+	RNA	DEL	G	G	-	rs4915234	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:201489731delG	ENST00000441932.1	+	0	1901				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						AAAAAaaaaagaaagaaagct	0.423													3	5	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208201379	208201383	+	Frame_Shift_Del	DEL	GAGTA	GAGTA	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr1:208201379_208201383delGAGTA	ENST00000367033.3	-	31	6317_6321	c.5560_5564delTACTC	c.(5560-5565)cfs	p.YS1854fs	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1854					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTGACATAGGAGTAGATCTCATTG	0.556													47	73	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													4	2	---	---	---	---					
OR5K3	403277	broad.mit.edu	37	3	98109624	98109625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:98109624_98109625insT	ENST00000383695.1	+	1	115_116	c.115_116insT	c.(115-117)ggtfs	p.G39fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TCTGATCACCATGGTGGGGAAC	0.416													88	217	---	---	---	---					
NEK11	79858	broad.mit.edu	37	3	130852765	130852766	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr3:130852765_130852766delGA	ENST00000383366.4	+	7	905_906	c.612_613delGA	c.(610-615)ctaafs	p.LK204fs	NEK11_ENST00000510688.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000510769.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.LK204fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.LK56fs	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	204	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CTGAGGCTCTGAAACACCAAGG	0.446													11	96	---	---	---	---					
LNPEP	4012	broad.mit.edu	37	5	96314964	96314964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:96314964delC	ENST00000231368.5	+	2	834	c.142delC	c.(142-144)ccfs	p.P48fs	LNPEP_ENST00000395770.3_Frame_Shift_Del_p.P34fs	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	48					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GGAATATGAGCCCCGGGGTTC	0.498													18	69	---	---	---	---					
PCDHGB3	56102	broad.mit.edu	37	5	140751138	140751138	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr5:140751138delA	ENST00000576222.1	+	1	1308	c.1177delA	c.(1177-1179)aafs	p.K393fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCTTTAAAATCGTTCA	0.458													10	38	---	---	---	---					
AMPH	273	broad.mit.edu	37	7	38433710	38433710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:38433710delG	ENST00000356264.2	-	18	1718	c.1503delC	c.(1501-1503)gcfs	p.A501fs	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000325590.5_Frame_Shift_Del_p.A459fs|AMPH_ENST00000428293.2_Frame_Shift_Del_p.A459fs	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	501					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTCCTTCCCCGGCAGGGACAG	0.577													42	109	---	---	---	---					
GRM8	2918	broad.mit.edu	37	7	126882938	126882938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr7:126882938delA	ENST00000339582.2	-	2	1129	c.321delT	c.(319-321)tcfs	p.S107fs	GRM8_ENST00000358373.3_Frame_Shift_Del_p.S107fs|GRM8_ENST00000444921.2_Frame_Shift_Del_p.S107fs|GRM8_ENST00000405249.1_Frame_Shift_Del_p.S107fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	107					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGTGTCCCTAGAGCACGTGT	0.478										HNSCC(24;0.065)			24	60	---	---	---	---					
LRRCC1	85444	broad.mit.edu	37	8	86021877	86021878	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr8:86021877_86021878insT	ENST00000414626.2	+	1	981_982	c.92_93insT	c.(91-93)ctgfs	p.L31fs	LRRCC1_ENST00000360375.3_Frame_Shift_Ins_p.L51fs			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	51					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						GTCAATCTTCATTGCAATAACA	0.282													13	24	---	---	---	---					
ITPRIP	85450	broad.mit.edu	37	10	106075158	106075159	+	Frame_Shift_Ins	INS	-	-	G	rs3802671	by1000genomes	TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr10:106075158_106075159insG	ENST00000278071.2	-	3	1103_1104	c.651_652insC	c.(649-654)ccagccfs	p.A218fs	ITPRIP_ENST00000337478.1_Frame_Shift_Ins_p.A218fs|ITPRIP_ENST00000358187.2_Frame_Shift_Ins_p.A218fs	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	218						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTAGGGCTCGGGGGGTGTGA	0.644													8	33	---	---	---	---					
SF1	7536	broad.mit.edu	37	11	64536718	64536718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr11:64536718delC	ENST00000377390.3	-	7	1093	c.756delG	c.(754-756)ggfs	p.G252fs	SF1_ENST00000433274.2_Frame_Shift_Del_p.G226fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000422298.2_Frame_Shift_Del_p.G137fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.G377fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.G252fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.G252fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.G252fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	252					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCCGAAGGGTCCCATTTAAGC	0.463													47	86	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57970143	57970143	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr12:57970143delC	ENST00000455537.2	+	19	2454	c.2180delC	c.(2179-2181)acfs	p.T727fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.T638fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	727					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGCAGAAGACCATTGATGAG	0.597													16	26	---	---	---	---					
AQP9	366	broad.mit.edu	37	15	58476198	58476199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr15:58476198_58476199insT	ENST00000219919.4	+	6	1122_1123	c.752_753insT	c.(751-753)cttfs	p.L251fs	AQP9_ENST00000536493.1_Frame_Shift_Ins_p.L251fs|AQP9_ENST00000558772.1_Frame_Shift_Ins_p.L186fs|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	251					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GTAGTGGGCCCTTTGGTTGGTG	0.441													38	160	---	---	---	---					
CCDC78	124093	broad.mit.edu	37	16	773872	773872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr16:773872delC	ENST00000293889.6	-	11	1223	c.1118delG	c.(1117-1119)gafs	p.G373fs		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	373										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTGATGTTCCCCCCTGGGA	0.642													4	6	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11515094	11515094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:11515094delG	ENST00000262442.3	+	4	969	c.901delG	c.(901-903)cafs	p.A302fs	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Frame_Shift_Del_p.A301fs|DNAH9_ENST00000454412.2_Frame_Shift_Del_p.A302fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	302	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATGTTGTTGCAGGTGAGGA	0.463													32	31	---	---	---	---					
KRT16P4	339244	broad.mit.edu	37	17	18366522	18366523	+	RNA	DEL	GG	GG	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr17:18366522_18366523delGG	ENST00000580052.1	+	0	172																											CAACCCTACTGGGAGGGGCGGG	0.500													6	10	---	---	---	---					
MX2	4600	broad.mit.edu	37	21	42775222	42775222	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chr21:42775222delG	ENST00000330714.3	+	12	1786	c.1602delG	c.(1600-1602)gtfs	p.V534fs		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	534					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCATTAACGTGGCCAAAAAAC	0.383													10	36	---	---	---	---					
MAGEB1	4112	broad.mit.edu	37	X	30269243	30269243	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7669-01A-21D-2063-08	TCGA-44-7669-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d19ad71-e908-4847-8b5f-c76c63216b53	1d6d5b95-d173-4726-aa7b-a8ce975a7b2d	g.chrX:30269243delG	ENST00000378981.3	+	4	954	c.633delG	c.(631-633)aafs	p.K211fs	MAGEB1_ENST00000397548.2_Frame_Shift_Del_p.K211fs|MAGEB1_ENST00000397550.1_Frame_Shift_Del_p.K211fs	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	211	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTTCTTAAAGGGCAACTCTG	0.478													16	6	---	---	---	---					
