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
ZNF573	126231	broad.mit.edu	37	19	38262306	38262306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:38262306C>T	ENST00000590414.2	-	2	121	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000536220.1_5'UTR			Q86YE8	ZN573_HUMAN	zinc finger protein 573	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AAGTCTATGGCCACATCCCTG	0.408000													6	22					0	0	0.038147	0	0
HELZ	9931	broad.mit.edu	37	17	65186378	65186378	+	Silent	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:65186378T>G	ENST00000358691.5	-	10	817	c.651A>C	c.(649-651)tcA>tcC	p.S217S	HELZ_ENST00000580168.1_Silent_p.S217S|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTATCAGCCGTGAAGCATATC	0.393000													12	50					0	0	0.016723	0	0
LAMA4	3910	broad.mit.edu	37	6	112493962	112493962	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:112493962G>C	ENST00000230538.7	-	12	1799	c.1402C>G	c.(1402-1404)Cgc>Ggc	p.R468G	LAMA4_ENST00000389463.4_Missense_Mutation_p.R461G|LAMA4_ENST00000424408.2_Missense_Mutation_p.R461G|LAMA4_ENST00000522006.1_Missense_Mutation_p.R461G	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	468	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACAGAGTGCGGGTCTCATTG	0.527000													4	29					0	0	0.014758	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532554	71532554	+	Missense_Mutation	SNP	C	C	T	rs146846422		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:71532554C>T	ENST00000265382.3	+	9	1167	c.862C>T	c.(862-864)Cca>Tca	p.P288S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P288S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	288	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GGAGGAGACCCCACAAAATGT	0.473000													163	56					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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)		TGAGGATGGGCCTCCGGTTCA	0.572000		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)			38	19					7.63091e-17	9.29887e-17	0.030466	1	0
HERC2	8924	broad.mit.edu	37	15	28389228	28389228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:28389228G>A	ENST00000261609.7	-	73	11402	c.11294C>T	c.(11293-11295)gCc>gTc	p.A3765V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3765					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)		TTTACCTAGGGCACTCAGCTG	0.507000													30	64					0	0	0.015359	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487466	110487466	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:110487466A>G	ENST00000378402.5	+	51	8829	c.8725A>G	c.(8725-8727)Att>Gtt	p.I2909V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2909					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAACCAACATTTCATATAC	0.338000										HNSCC(38;0.096)			6	29					0	0	0.021553	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750142	140750142	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140750142T>G	ENST00000576222.1	+	1	312	c.181T>G	c.(181-183)Tta>Gta	p.L61V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_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)			CGTGGGGGATTTACCTACTAG	0.557000													6	142					0	0	0.021553	0	0
KCNH7	90134	broad.mit.edu	37	2	163374317	163374317	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:163374317C>A	ENST00000332142.5	-	4	914	c.815G>T	c.(814-816)aGa>aTa	p.R272I	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R272I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	272					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)	CGAAGATGCTCTCCGTATACT	0.458000													5	53					5.9392e-07	6.6891e-07	0.021553	1	0
PSMB5	5693	broad.mit.edu	37	14	23502633	23502633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23502633T>C	ENST00000361611.6	-	2	712	c.449A>G	c.(448-450)aAa>aGa	p.K150R	PSMB5_ENST00000493471.2_Missense_Mutation_p.K150R|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000425762.2_Missense_Mutation_p.K47R	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CCCCATGCCTTTGTACTGATA	0.517000													33	69					0	0	0.019004	0	0
ODF3	113746	broad.mit.edu	37	11	197593	197593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:197593G>A	ENST00000325113.4	+	3	459	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ODF3_ENST00000342593.5_Missense_Mutation_p.A48T|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.A48T	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	48					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAGCTGCGTGCACCGGCCTA	0.637000													20	23					0	0	0.010504	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036671	58036671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:58036671C>A	ENST00000556826.1	-	6	1197	c.961G>T	c.(961-963)Gcc>Tcc	p.A321S	SLC35F4_ENST00000339762.6_Missense_Mutation_p.A357S|SLC35F4_ENST00000554729.1_Missense_Mutation_p.A198S	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAGTTGGCACTTCCAAGA	0.428000													9	12					0.00829132	0.00859983	0.008291	1	0
BRSK1	84446	broad.mit.edu	37	19	55805723	55805723	+	Silent	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:55805723A>C	ENST00000309383.1	+	7	913	c.636A>C	c.(634-636)gcA>gcC	p.A212A	BRSK1_ENST00000585418.1_Silent_p.A212A|BRSK1_ENST00000590333.1_Silent_p.A228A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	212	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCGCCGGGCAGACATGTGGA	0.587000													10	24					0	0	0.008291	0	0
MLNR	2862	broad.mit.edu	37	13	49796405	49796405	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr13:49796405G>A	ENST00000218721.1	+	2	1131	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	377					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AGTCCAGGCCGAGAGGCTTCC	0.552000													29	15					0	0	0.027356	0	0
CD248	57124	broad.mit.edu	37	11	66083527	66083527	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083527C>T	ENST00000311330.3	-	1	988	c.972G>A	c.(970-972)caG>caA	p.Q324Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	324	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGACACACATCTGCTGGCACA	0.602000													17	31					0	0	0.008871	0	0
RIPK4	54101	broad.mit.edu	37	21	43166824	43166824	+	Missense_Mutation	SNP	G	G	A	rs67846875		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:43166824G>A	ENST00000352483.2	-	5	845	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	RIPK4_ENST00000542057.1_Missense_Mutation_p.L198F|RIPK4_ENST00000332512.3_Missense_Mutation_p.L261F|RIPK4_ENST00000544709.1_Missense_Mutation_p.L198F			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	261						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCTGCATGAGGCGTATCAGG	0.672000													22	42					0	0	0.021523	0	0
ASPM	259266	broad.mit.edu	37	1	197091324	197091324	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:197091324G>T	ENST00000367409.4	-	15	3962	c.3706C>A	c.(3706-3708)Cat>Aat	p.H1236N	ASPM_ENST00000294732.7_Missense_Mutation_p.H1236N|ASPM_ENST00000367408.1_Missense_Mutation_p.H486N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1236					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						ATATCTGAATGATTAATCATA	0.308000													10	40					0.000978159	0.00103379	0.010729	1	0
CD248	57124	broad.mit.edu	37	11	66083267	66083267	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083267C>G	ENST00000311330.3	-	1	1248	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	411	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GAAGCTCGGTCTATAGGCCAG	0.647000													24	95					0	0	0.014410	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:39261731G>C	ENST00000391415.1	+	1	148	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637000													4	37					0	0	0.009096	0	0
SORCS3	22986	broad.mit.edu	37	10	106982948	106982948	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:106982948G>A	ENST00000369701.3	+	20	3036	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	937						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)		CAGTGCAGTCGTGTGGCCCAG	0.448000													50	53					0	0	0.014410	0	0
IQCC	55721	broad.mit.edu	37	1	32671343	32671343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:32671343G>A	ENST00000537469.1	+	1	108	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000291358.6_Intron	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	31	IQ.									endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGGGCGCGGGGTTCACAGGA	0.632000													3	8					0	0	0.009096	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801094	44801094	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:44801094T>C	ENST00000309315.4	+	10	1410	c.1287T>C	c.(1285-1287)gaT>gaC	p.D429D	ZMIZ2_ENST00000433667.1_Silent_p.D397D|ZMIZ2_ENST00000413916.1_Silent_p.D371D|ZMIZ2_ENST00000265346.7_Silent_p.D403D|ZMIZ2_ENST00000441627.1_Silent_p.D429D	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	429					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGTGCGCGATGGGGTGGTCC	0.612000													5	80					0	0	0.014758	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587132	15587132	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:15587132A>T	ENST00000292609.4	-	2	478	c.349T>A	c.(349-351)Tcg>Acg	p.S117T	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S117T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	117					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACGGTCGAGCCATCAGGT	0.627000													43	68					0	0	0.014410	0	0
BTBD3	22903	broad.mit.edu	37	20	11903683	11903683	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:11903683T>A	ENST00000405977.1	+	5	1563	c.938T>A	c.(937-939)cTa>cAa	p.L313Q	BTBD3_ENST00000254977.3_Missense_Mutation_p.L252Q|BTBD3_ENST00000378226.2_Missense_Mutation_p.L313Q|BTBD3_ENST00000399006.2_Missense_Mutation_p.L252Q			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	313										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGCAAGGTTCTAGGAAAGGCA	0.463000													37	37					0	0	0.021022	0	0
MICB	4277	broad.mit.edu	37	6	31473459	31473459	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:31473459C>A	ENST00000252229.6	+	2	215	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	MICB_ENST00000399150.3_Missense_Mutation_p.L46I|MICB_ENST00000538442.1_Missense_Mutation_p.L14I	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	46					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GTCAGGGTTTCTCGCTGAGGG	0.562000													27	19					2.4375e-19	3.00311e-19	0.034045	1	0
ARHGEF26	26084	broad.mit.edu	37	3	153840472	153840472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:153840472C>G	ENST00000356448.4	+	2	975	c.691C>G	c.(691-693)Cct>Gct	p.P231A	ARHGEF26_ENST00000465817.1_Missense_Mutation_p.P231A|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.P231A	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	231					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCTCGAGAATCCTTCCGTGGT	0.542000													12	16					0	0	0.013537	0	0
ZNF521	25925	broad.mit.edu	37	18	22806653	22806653	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:22806653C>A	ENST00000361524.3	-	4	1377	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	ZNF521_ENST00000584787.1_Missense_Mutation_p.C190F|ZNF521_ENST00000538137.2_Missense_Mutation_p.C410F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	410					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGTTTGTTGCAGTAAATACA	0.438000			T	PAX5	ALL								27	44					6.32553e-13	7.46346e-13	0.024334	1	0
C5	727	broad.mit.edu	37	9	123797114	123797114	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:123797114G>C	ENST00000223642.1	-	5	580	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	184					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGGAAAAGAGATAATTCC	0.353000													12	22					0	0	0.016723	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923490	78923490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:78923490C>T	ENST00000261751.3	-	4	398	c.287G>A	c.(286-288)cGc>cAc	p.R96H	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R96H|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	96					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACCCTCGTAGCGGGAGCTGTT	0.577000													27	72					0	0	0.030593	0	0
HSPH1	10808	broad.mit.edu	37	13	31711647	31711647	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr13:31711647T>C	ENST00000320027.5	-	18	2729	c.2385A>G	c.(2383-2385)acA>acG	p.T795T	HSPH1_ENST00000445273.2_Silent_p.T797T|HSPH1_ENST00000380405.4_Silent_p.T751T|HSPH1_ENST00000429785.2_Silent_p.T614T|HSPH1_ENST00000380406.5_Silent_p.T754T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	795					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGGGTTCACATGTGTTGTTCA	0.358000													23	22					0	0	0.018920	0	0
CD248	57124	broad.mit.edu	37	11	66083928	66083928	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083928C>G	ENST00000311330.3	-	1	587	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	191	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGCAGCCACTCAAACTCTGTG	0.677000													12	22					0	0	0.013537	0	0
MYH10	4628	broad.mit.edu	37	17	8383589	8383589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:8383589C>A	ENST00000360416.3	-	40	5574	c.5436G>T	c.(5434-5436)caG>caT	p.Q1812H	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Missense_Mutation_p.Q1802H|MYH10_ENST00000379980.4_Missense_Mutation_p.Q1797H|MYH10_ENST00000269243.4_Missense_Mutation_p.Q1781H	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1781					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTCACTCTTCTGGGCGGCGC	0.592000													33	71					1.57351e-24	1.97131e-24	0.017118	1	0
CD248	57124	broad.mit.edu	37	11	66083244	66083244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083244C>T	ENST00000311330.3	-	1	1271	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	419	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ATCTGTGGCTCTCTGTCCTCT	0.657000													28	107					0	0	0.014410	0	0
GJA1	2697	broad.mit.edu	37	6	121768632	121768632	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:121768632G>T	ENST00000282561.3	+	2	796	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	213					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCATCTTCATGCTGGTGGTGT	0.488000													47	78					2.27781e-18	2.79094e-18	0.014410	1	0
RP11-45M22.4	0	broad.mit.edu	37	17	17120410	17120410	+	Missense_Mutation	SNP	G	G	A	rs150752548		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:17120410G>A	ENST00000427497.3	-	6	771	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	FLCN_ENST00000285071.4_Silent_p.L383L																							CTGACTGGACGAGGTCCACGT	0.567000													12	29					0	0	0.013537	0	0
HS1BP3	64342	broad.mit.edu	37	2	20818936	20818936	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:20818936G>T	ENST00000304031.3	-	7	1015	c.990C>A	c.(988-990)ccC>ccA	p.P330P		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	330	Pro-rich.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTggcttgggcttaagct	0.602000													37	67					1.90571e-15	2.29715e-15	0.019004	1	0
MBD1	4152	broad.mit.edu	37	18	47799236	47799236	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:47799236T>C	ENST00000591416.1	-	14	2105	c.1674A>G	c.(1672-1674)aaA>aaG	p.K558K	MBD1_ENST00000349085.2_Silent_p.K456K|MBD1_ENST00000588937.1_Silent_p.K489K|MBD1_ENST00000591535.1_Silent_p.K489K|MBD1_ENST00000339998.6_Silent_p.K512K|MBD1_ENST00000269468.5_Silent_p.K558K|MBD1_ENST00000353909.3_Silent_p.K509K|MBD1_ENST00000457839.2_Silent_p.K583K|MBD1_ENST00000587605.1_Silent_p.K456K|MBD1_ENST00000585672.1_Silent_p.K508K|MBD1_ENST00000269471.5_Silent_p.K489K|MBD1_ENST00000398493.1_Silent_p.K502K|MBD1_ENST00000398495.2_Silent_p.K527K|MBD1_ENST00000382948.5_Silent_p.K558K|MBD1_ENST00000590208.1_Silent_p.K558K|MBD1_ENST00000424334.2_Silent_p.K609K|MBD1_ENST00000347968.3_Silent_p.K502K|MBD1_ENST00000398488.1_Silent_p.K456K|MBD1_ENST00000436910.1_Silent_p.K489K|MBD1_ENST00000585595.1_Silent_p.K583K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	558	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGGCCAATTTGGAGGCAG	0.607000													3	49					0	0	0.004672	0	0
NPAP1	23742	broad.mit.edu	37	15	24921325	24921325	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:24921325A>C	ENST00000329468.2	+	1	785	c.311A>C	c.(310-312)aAc>aCc	p.N104T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGCTCGGAACCCCCCGAGG	0.682000													4	49					0	0	0.009096	0	0
MNT	4335	broad.mit.edu	37	17	2290453	2290453	+	Silent	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:2290453G>C	ENST00000174618.4	-	6	1896	c.1491C>G	c.(1489-1491)acC>acG	p.T497T		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	497					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CATGGTTGAGGGTGGCAGGGT	0.682000													7	5					0	0	0.004482	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203786208	203786208	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:203786208C>G	ENST00000545588.1	+	2	3837	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q4E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	4							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATGCCTAATCAAGGAGAAGA	0.388000													16	89					0	0	0.038395	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779477	97779477	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:97779477C>G	ENST00000344386.3	+	8	840	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.Q226E|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	226										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TAATATTCAACAAAATAATAC	0.333000													34	126					0	0	0.012213	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													3	54					0	0	0.009096	0	0
FUT2	2524	broad.mit.edu	37	19	49206855	49206855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:49206855G>C	ENST00000425340.2	+	2	759	c.642G>C	c.(640-642)aaG>aaC	p.K214N	FUT2_ENST00000391876.4_Missense_Mutation_p.K214N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	214					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGTGTGGAAGGGGGTGGTGG	0.627000													34	54					0	0	0.019004	0	0
TBCK	93627	broad.mit.edu	37	4	107165855	107165855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:107165855C>G	ENST00000273980.4	-	12	1445	c.998G>C	c.(997-999)gGa>gCa	p.G333A	TBCK_ENST00000394706.3_Missense_Mutation_p.G294A|TBCK_ENST00000394708.2_Missense_Mutation_p.G333A|TBCK_ENST00000432496.2_Missense_Mutation_p.G333A|TBCK_ENST00000361687.4_Missense_Mutation_p.G270A			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	333						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAGTCACCTCCAGCCAAACA	0.363000													18	12					0	0	0.043863	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21029378	21029378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:21029378G>A	ENST00000495827.1	-	2	103	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.L20F	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	20					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TAGATGAAAAGATACGCATTC	0.328000													23	73					0	0	0.016522	0	0
SNX4	8723	broad.mit.edu	37	3	125172710	125172710	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:125172710T>C	ENST00000251775.4	-	12	1158	c.1134A>G	c.(1132-1134)ctA>ctG	p.L378L	SNX4_ENST00000536067.1_Silent_p.L233L	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	378					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTTGTTCTTCTAGCACCTTTA	0.393000													20	46					0	0	0.012319	0	0
ZNF750	79755	broad.mit.edu	37	17	80790003	80790003	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:80790003C>G	ENST00000269394.3	-	2	1161	c.328G>C	c.(328-330)Gac>Cac	p.D110H	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	110						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCTTGATGTCTTCCCTGGCA	0.612000													9	55					0	0	0.008291	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747722	167747722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:167747722G>C	ENST00000470487.1	-	10	1968	c.1279C>G	c.(1279-1281)Ctg>Gtg	p.L427V	GOLIM4_ENST00000309027.4_Missense_Mutation_p.L399V	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	427	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						tgttcccgcagctgctgGGCC	0.577000													30	112					0	0	0.045705	0	0
ZNF394	84124	broad.mit.edu	37	7	99091989	99091989	+	Silent	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:99091989A>G	ENST00000337673.6	-	3	1052	c.849T>C	c.(847-849)aaT>aaC	p.N283N	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	283					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAATTCATTATTTTTAGAGT	0.458000													9	103					0	0	0.004482	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141630	133141630	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:133141630A>T	ENST00000388996.4	-	15	2918	c.2498T>A	c.(2497-2499)cTc>cAc	p.L833H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L713H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L821H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	833					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACCCTCGGCGAGGTACCGCTT	0.597000													8	34					0	0	0.004482	0	0
COL12A1	1303	broad.mit.edu	37	6	75851809	75851809	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:75851809G>A	ENST00000322507.8	-	27	5205	c.4896C>T	c.(4894-4896)gtC>gtT	p.V1632V	COL12A1_ENST00000483888.2_Silent_p.V1632V|COL12A1_ENST00000416123.2_Silent_p.V1632V|COL12A1_ENST00000345356.6_Silent_p.V468V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1632	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGAAACGCTGACTGTGTACA	0.493000													47	61					0	0	0.014410	0	0
PIGS	94005	broad.mit.edu	37	17	26882020	26882020	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:26882020G>C	ENST00000308360.7	-	11	1616	c.1241C>G	c.(1240-1242)aCg>aGg	p.T414R	PIGS_ENST00000395346.2_Missense_Mutation_p.T406R|PIGS_ENST00000543734.1_Missense_Mutation_p.T353R	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	414					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTTCACTCGTAGGCCCTGA	0.592000													18	25					0	0	0.043863	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426165	71426165	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:71426165A>C	ENST00000373657.1	-	3	2685	c.2083T>G	c.(2083-2085)Ttt>Gtt	p.F695V	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.F818V			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	818					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACACTTCCAAACCCCTTTGGT	0.383000													23	10					0	0	0.014323	0	0
SRRM1	10250	broad.mit.edu	37	1	24978993	24978993	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:24978993C>G	ENST00000323848.9	+	7	1109	c.794C>G	c.(793-795)tCc>tGc	p.S265C	SRRM1_ENST00000447431.2_Missense_Mutation_p.S265C|SRRM1_ENST00000374389.4_Missense_Mutation_p.S265C|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.S134C	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	265	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAAAAAATTCCAAAAAAGAA	0.448000													10	11					0	0	0.006214	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554847	40554847	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:40554847A>G	ENST00000297737.6	-	4	412	c.266T>C	c.(265-267)gTg>gCg	p.V89A	ZMAT4_ENST00000315769.7_Missense_Mutation_p.V89A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	89						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GGAATCGGCCACCACCGCTGA	0.502000													23	62					0	0	0.014323	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988170	135988170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:135988170C>G	ENST00000401392.1	-	13	2079	c.1867G>C	c.(1867-1869)Gag>Cag	p.E623Q	ZRANB3_ENST00000264159.6_Missense_Mutation_p.E623Q|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E623Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	623						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGCCAGCCCTCTACAGGAAAG	0.488000													21	35					0	0	0.010504	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409554	17409554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:17409554G>A	ENST00000339994.4	-	1	652	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	KCNJ11_ENST00000528731.1_Intron	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CTCCGCTGGCGGGCACGGTAC	0.652000													24	50					0	0	0.018920	0	0
VPS13B	157680	broad.mit.edu	37	8	100880545	100880545	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:100880545G>A	ENST00000358544.2	+	59	11430	c.11319G>A	c.(11317-11319)ccG>ccA	p.P3773P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P3748P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3773					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGATCAGCCGATGCAGAACT	0.493000													17	50					0	0	0.033300	0	0
OTUD5	55593	broad.mit.edu	37	X	48780923	48780923	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:48780923G>T	ENST00000156084.4	-	8	1641	c.1581C>A	c.(1579-1581)tcC>tcA	p.S527S	OTUD5_ENST00000396743.3_Silent_p.S522S|OTUD5_ENST00000376488.3_Silent_p.S522S|OTUD5_ENST00000428668.2_Silent_p.S305S	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	527					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AGGCAGAGGGGGACATCTGCT	0.607000													8	3					0.000157383	0.000167926	0.038147	1	0
NBPF9	400818	broad.mit.edu	37	1	144828684	144828684	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:144828684A>G	ENST00000338347.4	+	14	1730	c.1730A>G	c.(1729-1731)cAg>cGg	p.Q577R	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Q175R|NBPF9_ENST00000440491.2_3'UTR					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TTTGAGGAACAGCACATCAGC	0.433000													11	388					0	0	0.020292	0	0
ACIN1	22985	broad.mit.edu	37	14	23535181	23535181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23535181C>T	ENST00000262710.1	-	10	2803	c.2476G>A	c.(2476-2478)Gtt>Att	p.V826I	ACIN1_ENST00000357481.2_Missense_Mutation_p.V68I|ACIN1_ENST00000605057.1_Missense_Mutation_p.V768I|ACIN1_ENST00000457657.1_Missense_Mutation_p.V786I|ACIN1_ENST00000397341.3_Missense_Mutation_p.V68I|ACIN1_ENST00000557515.1_Missense_Mutation_p.V68I|ACIN1_ENST00000338631.6_Missense_Mutation_p.V99I|ACIN1_ENST00000555053.1_Missense_Mutation_p.V826I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	826					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTACAGACAACGGAGATCTTC	0.433000													15	39					0	0	0.043863	0	0
TNNI2	7136	broad.mit.edu	37	11	1862048	1862048	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:1862048G>A	ENST00000381906.1	+	6	255		c.e6-1		TNNI2_ENST00000252898.7_Splice_Site|TNNI2_ENST00000381911.1_Splice_Site|TNNI2_ENST00000381905.3_Splice_Site	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)						muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACCCCTAGGAGCTCTGCA	0.637000													7	10					0	0	0.038147	0	0
CD248	57124	broad.mit.edu	37	11	66084084	66084084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66084084C>T	ENST00000311330.3	-	1	431	c.415G>A	c.(415-417)Gag>Aag	p.E139K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	139	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAGCGGTGCTCGCCACTTGCC	0.706000													21	17					0	0	0.014323	0	0
LPAR4	2846	broad.mit.edu	37	X	78011180	78011180	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:78011180T>G	ENST00000435339.2	+	2	1219	c.814T>G	c.(814-816)Tat>Gat	p.Y272D	LPAR4_ENST00000373301.2_Missense_Mutation_p.Y272D	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	272						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTTCTTGTATGCCCTGGT	0.408000													21	9					0	0	0.010504	0	0
CST9L	128821	broad.mit.edu	37	20	23545618	23545618	+	Silent	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:23545618G>C	ENST00000376979.3	-	3	709	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	137						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCTTGTTCAGGAGGCTGAACT	0.552000													21	19					0	0	0.018920	0	0
AHCYL2	23382	broad.mit.edu	37	7	129043233	129043233	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:129043233G>C	ENST00000325006.3	+	7	986	c.932G>C	c.(931-933)gGa>gCa	p.G311A	AHCYL2_ENST00000446212.1_Missense_Mutation_p.G209A|AHCYL2_ENST00000531335.2_Missense_Mutation_p.G230A|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G208A|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G208A|AHCYL2_ENST00000446544.2_Missense_Mutation_p.G310A	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	311					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTGGATGATGGAGGGGATCTT	0.403000													30	54					0	0	0.012213	0	0
CELSR3	1951	broad.mit.edu	37	3	48694603	48694603	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:48694603G>A	ENST00000544264.1	-	2	4207	c.3927C>T	c.(3925-3927)gaC>gaT	p.D1309D	CELSR3_ENST00000164024.4_Silent_p.D1309D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1309					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGAAGACGTCCTCAGCGG	0.657000													9	14					0	0	0.006214	0	0
SNX33	257364	broad.mit.edu	37	15	75942185	75942185	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:75942185A>G	ENST00000308527.5	+	1	1939	c.742A>G	c.(742-744)Agc>Ggc	p.S248G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	248	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGGCATCAAAAGCTACATCTC	0.547000													12	212					0	0	0.016723	0	0
UBR2	23304	broad.mit.edu	37	6	42603184	42603184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:42603184G>A	ENST00000372899.1	+	14	1832	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	UBR2_ENST00000372883.3_Missense_Mutation_p.G29E|UBR2_ENST00000372901.1_Missense_Mutation_p.G525E	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	525					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGTCAAGTAGGACAACATATT	0.348000													16	10					0	0	0.028581	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283915	101283915	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:101283915T>G	ENST00000309922.6	+	2	444	c.290T>G	c.(289-291)tTc>tGc	p.F97C		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		ACCAGAGAGTTCATTGAGATG	0.403000													14	60					0	0	0.028581	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537590	28537590	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:28537590C>T	ENST00000401766.2	-	10	1904	c.1392G>A	c.(1390-1392)cgG>cgA	p.R464R	SLC6A4_ENST00000261707.3_Silent_p.R464R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	464					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CGAGCACGAACCGCTCCCGGC	0.597000													12	48					0	0	0.013537	0	0
ANKAR	150709	broad.mit.edu	37	2	190584297	190584297	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:190584297G>A	ENST00000520309.1	+	11	2312		c.e11-1		ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTCATTACAGGCACCATTCC	0.313000													4	117					0	0	0.014758	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	21					0	0	0.014758	0	0
KIAA0556	23247	broad.mit.edu	37	16	27765493	27765493	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:27765493G>A	ENST00000261588.4	+	18	3571		c.e18-1			NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556											breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCATGTGCAGATCCCGGAGC	0.562000													31	30					0	0	0.017118	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569270	99569270	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:99569270A>C	ENST00000331335.5	-	5	1720	c.1250T>G	c.(1249-1251)gTt>gGt	p.V417G	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_5'UTR|FILIP1L_ENST00000383694.2_Missense_Mutation_p.V177G|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.V417G|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.V177G	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	417						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGTTTTTCAACCTCTAGTTT	0.368000													45	46					0	0	0.036044	0	0
EXD2	55218	broad.mit.edu	37	14	69704290	69704290	+	Splice_Site	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:69704290A>G	ENST00000409014.1	+	10	1574		c.e10-1		EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000409675.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000409018.3_Splice_Site|EXD2_ENST00000312994.5_Splice_Site	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCTTGTTCCAGGAAGAACGT	0.552000													14	23					0	0	0.024245	0	0
HRASLS2	54979	broad.mit.edu	37	11	63325937	63325937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:63325937G>A	ENST00000255695.1	-	3	372	c.314C>T	c.(313-315)cCt>cTt	p.P105L		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	105					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CAGCGAATAAGGCAACTCCTG	0.547000													12	46					0	0	0.013537	0	0
WNT8A	7478	broad.mit.edu	37	5	137426396	137426396	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:137426396C>T	ENST00000506684.1	+	5	980	c.744C>T	c.(742-744)agC>agT	p.S248S	WNT8A_ENST00000398754.1_Silent_p.S230S			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	230					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGGAACAGCGCCGAGGGCC	0.542000													19	28					0	0	0.038395	0	0
COPB2	9276	broad.mit.edu	37	3	139092255	139092255	+	Splice_Site	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:139092255C>A	ENST00000333188.5	-	9	1076		c.e9-1		COPB2_ENST00000507777.1_Splice_Site	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)						COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CCCGACCAAGCTGAAAGAAAG	0.408000													9	29					3.09899e-07	3.50799e-07	0.004482	1	0
SEL1L	6400	broad.mit.edu	37	14	81965995	81965995	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:81965995A>T	ENST00000336735.4	-	7	905	c.789T>A	c.(787-789)ttT>ttA	p.F263L	SEL1L_ENST00000555824.1_Missense_Mutation_p.F263L	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	263	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGGCATACAGAAAGCCAAGAG	0.338000													8	34					0	0	0.006214	0	0
JAG1	182	broad.mit.edu	37	20	10620273	10620273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:10620273G>A	ENST00000254958.5	-	26	4045	c.3530C>T	c.(3529-3531)aCg>aTg	p.T1177M	JAG1_ENST00000423891.2_Missense_Mutation_p.T1018M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1177					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GTCTACCAGCGTGTACGCCGG	0.507000									Alagille Syndrome				82	41					0	0	0.014410	0	0
TMEM5	10329	broad.mit.edu	37	12	64202512	64202512	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:64202512G>C	ENST00000537373.1	+	6	1140	c.192G>C	c.(190-192)caG>caC	p.Q64H	TMEM5_ENST00000261234.6_Missense_Mutation_p.Q324H	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	324						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CCTTGCTTCAGAGTGATCTCA	0.428000													27	60					0	0	0.027356	0	0
TMEM135	65084	broad.mit.edu	37	11	87016978	87016978	+	Splice_Site	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:87016978A>G	ENST00000340353.7	+	8	835	c.632_splice	c.e8-1	p.I211_splice	TMEM135_ENST00000305494.5_Splice_Site_p.I233_splice|TMEM135_ENST00000532959.1_Splice_Site_p.I104_splice|TMEM135_ENST00000535167.1_Splice_Site_p.I94_splice	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	233						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAATTTCAGATGCAAACATG	0.284000													18	25					0	0	0.043863	0	0
CD248	57124	broad.mit.edu	37	11	66083847	66083847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083847C>T	ENST00000311330.3	-	1	668	c.652G>A	c.(652-654)Gag>Aag	p.E218K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	218	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACACCTCCCTCAGGCTGCTTC	0.667000													24	20					0	0	0.021523	0	0
SEL1L	6400	broad.mit.edu	37	14	81965994	81965994	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:81965994G>T	ENST00000336735.4	-	7	906	c.790C>A	c.(790-792)Ctg>Atg	p.L264M	SEL1L_ENST00000555824.1_Missense_Mutation_p.L264M	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	264	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GAGGCATACAGAAAGCCAAGA	0.338000													8	34					1.76689e-08	2.04154e-08	0.006214	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16046240	16046240	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:16046240C>T	ENST00000375799.3	+	6	704	c.477C>T	c.(475-477)taC>taT	p.Y159Y	PLEKHM2_ENST00000375793.2_Silent_p.Y159Y	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	159	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGCCCCTTACCTAGACCTGG	0.607000													27	20					0	0	0.045705	0	0
LRP2	4036	broad.mit.edu	37	2	169989168	169989168	+	Silent	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:169989168A>G	ENST00000263816.3	-	77	13929	c.13644T>C	c.(13642-13644)gaT>gaC	p.D4548D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4548					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTCTTATTATCCACATTTT	0.383000													25	52					0	0	0.024334	0	0
TEKT5	146279	broad.mit.edu	37	16	10788556	10788556	+	Missense_Mutation	SNP	C	C	T	rs16957557	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:10788556C>T	ENST00000283025.2	-	1	246	c.175G>A	c.(175-177)Gcc>Acc	p.A59T		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	59			A -> T (in dbSNP:rs16957557).		microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGGACGTTGGCTATCTTGTAG	0.607000													3	50					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179534354	179534354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:179534354G>A	ENST00000589042.1	-	158	35659	c.35435C>T	c.(35434-35436)gCt>gTt	p.A11812V	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9935	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGAACAGCTTCACGAAC	0.333000													51	96					0	0	0.014410	0	0
COL16A1	1307	broad.mit.edu	37	1	32140630	32140630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:32140630G>C	ENST00000373672.3	-	44	3353	c.2837C>G	c.(2836-2838)cCa>cGa	p.P946R	COL16A1_ENST00000271069.6_Intron	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	946	Nonhelical region 4 (NC4).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTTCAATTGGTAAGGATCC	0.542000													7	11					0	0	0.038147	0	0
TEP1	7011	broad.mit.edu	37	14	20837659	20837659	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:20837659G>A	ENST00000262715.5	-	53	7540	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	TEP1_ENST00000556935.1_Silent_p.T2392T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2500					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGTTACCTGTGGTCCATTCTC	0.488000													5	73					0	0	0.021553	0	0
OR7E24	26648	broad.mit.edu	37	19	9361989	9361989	+	Silent	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:9361989T>G	ENST00000456448.1	+	1	384	c.270T>G	c.(268-270)ggT>ggG	p.G90G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTGACATCGGTTTCACCTCCA	0.532000													23	27					0	0	0.014323	0	0
TTC40	54777	broad.mit.edu	37	10	134648830	134648830	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:134648830T>C	ENST00000368586.5	-	47	6822	c.6722A>G	c.(6721-6723)gAc>gGc	p.D2241G	TTC40_ENST00000263170.5_Missense_Mutation_p.D402G	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	402										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGGCCATGTCCTCACTGTA	0.657000													9	39					0	0	0.006214	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061386	126061386	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:126061386G>A	ENST00000318410.7	-	19	2590	c.2241C>T	c.(2239-2241)acC>acT	p.T747T	KIAA0196_ENST00000517845.1_Silent_p.T599T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	747					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCCATCCATGGTCGCTCCCA	0.403000													16	39					0	0	0.024245	0	0
CIT	11113	broad.mit.edu	37	12	120128169	120128169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:120128169G>T	ENST00000392521.2	-	47	6028	c.5973C>A	c.(5971-5973)caC>caA	p.H1991Q	CIT_ENST00000261833.7_Missense_Mutation_p.H1949Q|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1949					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)		GCTCTCGCGGGTGGCTGGGGC	0.716000													6	15					0.0215528	0.0222512	0.021553	1	0
CACNB1	782	broad.mit.edu	37	17	37347836	37347836	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:37347836T>C	ENST00000394303.3	-	3	389	c.182A>G	c.(181-183)gAg>gGg	p.E61G	CACNB1_ENST00000344140.5_Missense_Mutation_p.E61G|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.E61G	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	61					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGTGTAGGACTCCGCTGAGCC	0.597000													11	23					0	0	0.010729	0	0
DST	667	broad.mit.edu	37	6	56716396	56716396	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:56716396C>A	ENST00000370754.5	-	4	423	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.				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)			GACGCGTTCCCGGAACTCTAC	0.502000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					3.86212e-05	4.20123e-05	0.008291	1	0
ZNF737	100129842	broad.mit.edu	37	19	20728176	20728176	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:20728176A>T	ENST00000427401.4	-	4	927	c.833T>A	c.(832-834)aTt>aAt	p.I278N		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	278					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCAGTATGAATTATCTTATG	0.408000													14	18					0	0	0.028581	0	0
SLC33A1	9197	broad.mit.edu	37	3	155551699	155551699	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:155551699T>C	ENST00000392845.2	-	3	1475	c.1095A>G	c.(1093-1095)aaA>aaG	p.K365K	SLC33A1_ENST00000359479.3_Silent_p.K365K	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	365					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCAGTGTATTTGCTGATAA	0.388000													16	38					0	0	0.043863	0	0
UNC45A	55898	broad.mit.edu	37	15	91479661	91479661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:91479661C>T	ENST00000394275.2	+	7	1187	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Missense_Mutation_p.R133W	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	133					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	p.R133W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAGGCCTTGCGGAACATCGG	0.582000													31	36					0	0	0.041601	0	0
CD248	57124	broad.mit.edu	37	11	66083463	66083463	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083463C>G	ENST00000311330.3	-	1	1052	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	346	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGATGCCATCAGCCTCCAGC	0.577000													29	33					0	0	0.041601	0	0
HSPA8	3312	broad.mit.edu	37	11	122930647	122930647	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:122930647C>T	ENST00000534624.1	-	5	930	c.654G>A	c.(652-654)gaG>gaA	p.E218E	HSPA8_ENST00000532636.1_Silent_p.E218E|HSPA8_ENST00000453788.2_Silent_p.E218E|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000526110.1_Silent_p.E199E|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000227378.3_Silent_p.E218E|HSPA8_ENST00000533540.1_Intron	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	218	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGACTTGACCTCAAAGATTC	0.453000													5	32					0	0	0.014758	0	0
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Silent	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr20:34090746C>A	ENST00000397527.1	+	30	5269	c.4549C>A	c.(4549-4551)Cgg>Agg	p.R1517R	CEP250_ENST00000342580.4_Silent_p.R1461R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512000													14	16					0.000151284	0.000162194	0.016723	1	0
DNAAF2	55172	broad.mit.edu	37	14	50100985	50100985	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:50100985C>T	ENST00000298292.8	-	1	963	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295T	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GCCTGCTCGGCCGAGCGCAAC	0.657000													11	25					0	0	0.013537	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369367	19369367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:19369367C>T	ENST00000291481.7	-	4	845	c.782G>A	c.(781-783)cGc>cAc	p.R261H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	261	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGCGTCGTAGCGTTCCTCGGC	0.687000													20	24					0	0	0.008871	0	0
FBXO21	23014	broad.mit.edu	37	12	117615346	117615346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:117615346C>T	ENST00000427718.2	-	4	645	c.571G>A	c.(571-573)Gac>Aac	p.D191N	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.D191N	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GACTCATAGTCATCTGGCTGC	0.378000													47	50					0	0	0.014410	0	0
ADCY1	107	broad.mit.edu	37	7	45697403	45697403	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:45697403T>A	ENST00000297323.7	+	6	1248	c.1226T>A	c.(1225-1227)cTg>cAg	p.L409Q	ADCY1_ENST00000432715.1_Missense_Mutation_p.L184Q	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	409					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTGGTGTCCTGGGCTTGCGC	0.602000													10	18					0	0	0.008291	0	0
DPYS	1807	broad.mit.edu	37	8	105459661	105459661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:105459661T>C	ENST00000351513.2	-	3	626	c.494A>G	c.(493-495)aAa>aGa	p.K165R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	165					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTACAGATCTTTATAGGCCAT	0.413000													22	70					0	0	0.018920	0	0
LHX5	64211	broad.mit.edu	37	12	113906037	113906037	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:113906037C>T	ENST00000261731.3	-	3	1143	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TCTCCAGCTGCTTGGCCTTGA	0.672000													15	24					0	0	0.038395	0	0
OTOP2	92736	broad.mit.edu	37	17	72929559	72929559	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:72929559C>T	ENST00000331427.4	+	7	1700	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OTOP2_ENST00000580223.1_Silent_p.I536I	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	536						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCGGTCATCGTCAACATCT	0.592000													15	77					0	0	0.028581	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917176	42917176	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:42917176G>T	ENST00000316161.4	-	1	457	c.133C>A	c.(133-135)Cat>Aat	p.H45N	KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.H45N	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	45					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GCCATGGCATGGCCAAGCCAG	0.577000													28	25					7.26314e-15	8.70796e-15	0.034045	1	0
ADAM32	203102	broad.mit.edu	37	8	39022614	39022614	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:39022614G>T	ENST00000379907.4	+	9	859	c.732G>T	c.(730-732)aaG>aaT	p.K244N	ADAM32_ENST00000519315.1_Missense_Mutation_p.K244N|ADAM32_ENST00000437682.2_Missense_Mutation_p.K251N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	244	Peptidase M12B.				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)			ATGAAAATAAGATTTCTACAG	0.303000													22	32					7.87624e-14	9.39253e-14	0.016522	1	0
ZNF804A	91752	broad.mit.edu	37	2	185731223	185731223	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:185731223A>G	ENST00000302277.6	+	2	833	c.239A>G	c.(238-240)gAc>gGc	p.D80G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	80						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						AATTCATATGACCATGCTCAC	0.358000													15	74					0	0	0.033300	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100984	50100984	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:50100984G>T	ENST00000298292.8	-	1	964	c.884C>A	c.(883-885)gCc>gAc	p.A295D	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295D	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CGCCTGCTCGGCCGAGCGCAA	0.652000													10	26					3.07112e-06	3.40726e-06	0.010729	1	0
ADPGK	83440	broad.mit.edu	37	15	73044806	73044806	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:73044806C>G	ENST00000311669.8	-	7	1460	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	ADPGK_ENST00000456471.2_Missense_Mutation_p.R182T	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	457	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TATTCCCTCTCTGTGCCATTC	0.493000													41	116					0	0	0.014410	0	0
OR2M3	127062	broad.mit.edu	37	1	248367254	248367254	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:248367254G>A	ENST00000456743.1	+	1	923	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TCCGCAACAAGGAGGTGACCA	0.458000													30	83					0	0	0.012213	0	0
PDCD11	22984	broad.mit.edu	37	10	105174033	105174033	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:105174033T>C	ENST00000369797.3	+	11	1411	c.1317T>C	c.(1315-1317)atT>atC	p.I439I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	439					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTAGGTCTATTATTGAAGCTC	0.438000													7	19					0	0	0.004482	0	0
NID1	4811	broad.mit.edu	37	1	236205526	236205526	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:236205526G>A	ENST00000264187.6	-	4	901	c.819C>T	c.(817-819)ggC>ggT	p.G273G	NID1_ENST00000366595.3_Silent_p.G273G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	273					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAGGCACCACGCCATTGGTGG	0.557000													59	152					0	0	0.014410	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428622	190428622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:190428622G>A	ENST00000261024.2	-	7	1516	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	364					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CATTTTCGACGTAGCCAAGTA	0.468000													18	111					0	0	0.033300	0	0
TMCC2	9911	broad.mit.edu	37	1	205210771	205210771	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:205210771G>T	ENST00000358024.3	+	2	735	c.346G>T	c.(346-348)Gac>Tac	p.D116Y	TMCC2_ENST00000545499.1_Missense_Mutation_p.D38Y|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	116						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGTATGTCCGACCATGACTC	0.637000													6	38					0.00116845	0.0012233	0.021553	1	0
CHAF1A	10036	broad.mit.edu	37	19	4432045	4432045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:4432045C>T	ENST00000301280.5	+	12	2145	c.2044C>T	c.(2044-2046)Caa>Taa	p.Q682*	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	682	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCGTCCTGCAACCTGTGAA	0.602000								Chromatin Structure					25	56					0	0	0.030593	0	0
CSMD3	114788	broad.mit.edu	37	8	113585824	113585824	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1316	CUB 7.					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						GTGTCAGTCCGCGCATAGATG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	88					0	0	0.013726	0	0
C10orf12	26148	broad.mit.edu	37	10	98744407	98744407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:98744407G>A	ENST00000286067.2	+	1	3367	c.3260G>A	c.(3259-3261)aGt>aAt	p.S1087N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1087										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAGTTCAGAGTAAACGCAAG	0.488000													20	24					0	0	0.043863	0	0
FAM214B	80256	broad.mit.edu	37	9	35107864	35107864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:35107864C>T	ENST00000378561.1	-	2	3463	c.408G>A	c.(406-408)tgG>tgA	p.W136*	FAM214B_ENST00000322813.5_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378557.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000605244.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378554.2_Nonsense_Mutation_p.W136*|FAM214B_ENST00000603301.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000488109.2_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378566.1_Intron			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	136						nucleus											CCCCCGAAGTCCAAGATGAGG	0.617000													16	41					0	0	0.028581	0	0
CD248	57124	broad.mit.edu	37	11	66083246	66083246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083246C>T	ENST00000311330.3	-	1	1269	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	418	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGTGGCTCTCTGTCCTCTGG	0.652000													28	107					0	0	0.014410	0	0
PRSS48	345062	broad.mit.edu	37	4	152201007	152201007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:152201007C>T	ENST00000455694.2	+	2	114	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	38	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TGCTGCAGGGCGCTGGCCTTG	0.527000													28	30					0	0	0.027356	0	0
CD248	57124	broad.mit.edu	37	11	66083379	66083379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083379C>T	ENST00000311330.3	-	1	1136	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	374						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TCTTCCTCATCCTCCCCGTCA	0.622000													41	55					0	0	0.036044	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713447	142713447	+	RNA	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:142713447T>C	ENST00000369381.2	-	0	1158																											AGAACTCATTTTTACTTGTAC	0.323000													7	45					0	0	0.004482	0	0
CYC1	1537	broad.mit.edu	37	8	145151332	145151332	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:145151332T>C	ENST00000318911.4	+	4	619	c.546T>C	c.(544-546)agT>agC	p.S182S		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	182	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCAACAGTGAGGCTGCTC	0.587000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	56					0	0	0.021523	0	0
FGA	2243	broad.mit.edu	37	4	155510666	155510666	+	Missense_Mutation	SNP	G	G	A	rs121909606		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:155510666G>A	ENST00000302053.3	-	2	181	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FGA_ENST00000403106.3_Missense_Mutation_p.R35C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R35C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTGGGCCACGCACGCCTCCT	0.493000													42	19					0	0	0.045515	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182672	140182672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140182672G>T	ENST00000522353.2	+	1	1890	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	PCDHA3_ENST00000532566.2_Missense_Mutation_p.E630D|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGGAGAGATCAGCACGA	0.657000													22	56					2.89027e-11	3.39226e-11	0.014323	1	0
OTOGL	283310	broad.mit.edu	37	12	80752051	80752051	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:80752051G>T	ENST00000458043.2	+	49	6022	c.6016G>T	c.(6016-6018)Gtt>Ttt	p.V2006F	OTOGL_ENST00000546620.1_Missense_Mutation_p.V25F|OTOGL_ENST00000547103.1_Missense_Mutation_p.V1994F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACCAAACCTGTTCCACTATG	0.343000													6	15					0.00116845	0.0012233	0.021553	1	0
ANKFY1	51479	broad.mit.edu	37	17	4098291	4098291	+	Missense_Mutation	SNP	C	C	T	rs147745463	by1000genomes	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:4098291C>T	ENST00000341657.4	-	10	1389	c.1354G>A	c.(1354-1356)Gca>Aca	p.A452T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A494T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A452T|ANKFY1_ENST00000433651.1_Missense_Mutation_p.A452T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	452						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGTCAGGTGCGTCTGTGTGG	0.572000													14	31					0	0	0.038395	0	0
KLHL10	317719	broad.mit.edu	37	17	39994252	39994252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:39994252C>T	ENST00000293303.4	+	1	221	c.68C>T	c.(67-69)gCg>gTg	p.A23V	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	23						cytoplasm		p.A23V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AAGATGAGTGCGATGGCCTGT	0.562000													38	73					0	0	0.023175	0	0
ICAM3	3385	broad.mit.edu	37	19	10446518	10446518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:10446518C>T	ENST00000589261.1	-	3	779	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ICAM3_ENST00000160262.5_Missense_Mutation_p.E160K			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	160	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CGGCTCAGCTCCTCCTCCCAG	0.677000													3	10					0	0	0.014758	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814465	45814465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:45814465C>G	ENST00000261867.4	-	2	402	c.88G>C	c.(88-90)Gac>Cac	p.D30H	HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	30	Asp-rich (acidic).			D -> E (in Ref. 1; AAB82561).	regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TCCGAGAAGTCAAAGGCGCTG	0.572000													23	33					0	0	0.021523	0	0
GPR115	221393	broad.mit.edu	37	6	47682615	47682615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr6:47682615G>C	ENST00000283303.2	+	6	1892	c.1634G>C	c.(1633-1635)aGa>aCa	p.R545T	GPR115_ENST00000371220.1_Missense_Mutation_p.R602T|GPR115_ENST00000327753.3_Missense_Mutation_p.R545T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCTACATGAGACCTGAGGCC	0.483000													40	166					0	0	0.023175	0	0
CDH2	1000	broad.mit.edu	37	18	25589801	25589801	+	Silent	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:25589801C>A	ENST00000269141.3	-	5	1005	c.582G>T	c.(580-582)cgG>cgT	p.R194R	CDH2_ENST00000399380.3_Silent_p.R163R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	194	Cadherin 1.				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						TTACACTGTACCGCAGTGAAA	0.483000													28	44					1.77063e-15	2.14593e-15	0.027356	1	0
IL20RB	53833	broad.mit.edu	37	3	136708366	136708366	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:136708366G>C	ENST00000329582.4	+	4	739	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	IL20RB_ENST00000309741.5_Missense_Mutation_p.E117Q	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	164	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCCCAGTTTGAGTTCCTTGT	0.567000													12	39					0	0	0.013537	0	0
MICU1	10367	broad.mit.edu	37	10	74234891	74234891	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:74234891C>T	ENST00000398761.4	-	10	1038	c.906G>A	c.(904-906)caG>caA	p.Q302Q	MICU1_ENST00000418483.2_Silent_p.Q102Q|MICU1_ENST00000398763.4_Silent_p.Q102Q|MICU1_ENST00000361114.5_Silent_p.Q300Q|MICU1_ENST00000401998.3_Silent_p.Q300Q			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	300					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GCAGTTTACGCTGAAATTCGA	0.468000													4	10					0	0	0.009096	0	0
PCNT	5116	broad.mit.edu	37	21	47841931	47841931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:47841931C>G	ENST00000359568.5	+	32	7179	c.7072C>G	c.(7072-7074)Cct>Gct	p.P2358A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2358					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCAGGAGGCCCTGAGGCTCA	0.612000													22	49					0	0	0.018920	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													4	24					0	0	0.009096	0	0
KLHL14	57565	broad.mit.edu	37	18	30350122	30350122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr18:30350122C>T	ENST00000359358.4	-	2	871	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	KLHL14_ENST00000358095.4_Missense_Mutation_p.A145T|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	145	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTCACGTTGGCCGTGTAGAGG	0.637000													38	130					0	0	0.025465	0	0
PARP11	57097	broad.mit.edu	37	12	3921420	3921420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:3921420G>A	ENST00000228820.4	-	8	1030	c.886C>T	c.(886-888)Cga>Tga	p.R296*	PARP11_ENST00000427057.2_Nonsense_Mutation_p.R215*|PARP11_ENST00000447133.3_Nonsense_Mutation_p.R215*|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000476985.1_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	289	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.R289*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GAAGGAGGTCGCATGTATTTG	0.413000													39	82					0	0	0.027894	0	0
KIAA1598	57698	broad.mit.edu	37	10	118713583	118713583	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:118713583C>A	ENST00000355371.4	-	5	903	c.406G>T	c.(406-408)Gtc>Ttc	p.V136F	KIAA1598_ENST00000260777.10_Missense_Mutation_p.V136F|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.V76F|KIAA1598_ENST00000392903.2_Missense_Mutation_p.V136F	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	136					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TGTACTGAGACACAAGTCTCG	0.418000													19	26					6.44725e-10	7.52742e-10	0.014323	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461761	5461761	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:5461761A>G	ENST00000296564.7	+	13	2536	c.2314A>G	c.(2314-2316)Ata>Gta	p.I772V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	772										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CACATCATTAATAGGTTCTCA	0.388000													9	22					0	0	0.010729	0	0
DDX49	54555	broad.mit.edu	37	19	19035702	19035702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:19035702T>A	ENST00000438170.2	+	10	1061	c.649T>A	c.(649-651)Tcc>Acc	p.S217T	DDX49_ENST00000599156.1_3'UTR|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000247003.4_Missense_Mutation_p.I314N			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	0							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGCCTGGACATCCCTACGGTA	0.637000													23	27					0	0	0.018920	0	0
KIF5C	3800	broad.mit.edu	37	2	149847689	149847689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:149847689G>T	ENST00000435030.1	+	16	2250	c.1882G>T	c.(1882-1884)Gcc>Tcc	p.A628S	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.A533S|KIF5C_ENST00000397413.1_Missense_Mutation_p.A396S			O60282	KIF5C_HUMAN	kinesin family member 5C	628					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGCTGGCAGCCTGCCAGCT	0.587000													6	16					3.59834e-05	3.93348e-05	0.021553	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72057278	72057278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:72057278C>T	ENST00000378743.3	-	1	471	c.113G>A	c.(112-114)aGt>aAt	p.S38N	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S38N|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S38N	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	38	Ser-rich.				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						GCTGCTCCGACTCCGTATCTG	0.657000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	106					0	0	0.014410	0	0
TM9SF3	56889	broad.mit.edu	37	10	98292908	98292908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:98292908G>C	ENST00000371142.4	-	10	1441	c.1225C>G	c.(1225-1227)Cta>Gta	p.L409V		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	409						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACAAGATTTAGAGGAAGAATA	0.363000													17	31					0	0	0.033300	0	0
PDZD8	118987	broad.mit.edu	37	10	119044328	119044328	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:119044328A>G	ENST00000334464.5	-	5	2155	c.1916T>C	c.(1915-1917)gTg>gCg	p.V639A	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	639					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATGGCATCCACATTTTTTGC	0.453000													6	55					0	0	0.029380	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392390	60392390	+	Missense_Mutation	SNP	G	G	A	rs146801076	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:60392390G>A	ENST00000371204.3	-	1	72	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	10					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CCAGAGGGCAGCCGCCAGAGA	0.657000													4	9					0	0	0.009096	0	0
SIX4	51804	broad.mit.edu	37	14	61180764	61180764	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:61180764C>T	ENST00000216513.4	-	3	1766	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	569						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CCAAGCCTTCCTGTTTCACAG	0.468000													13	19					0	0	0.024245	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249400	71249400	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:71249400G>T	ENST00000398534.3	+	1	330	c.299G>T	c.(298-300)tGt>tTt	p.C100F		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	100	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TCCTCAGGCTGTGGGTCATCC	0.612000													72	504					3.79363e-24	4.72615e-24	0.014410	1	0
CD248	57124	broad.mit.edu	37	11	66083748	66083748	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083748C>A	ENST00000311330.3	-	1	767	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	251						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACGTGACCATCCACCTCCTCC	0.687000													27	33					0.000184323	0.000195734	0.034045	1	0
THSD7B	80731	broad.mit.edu	37	2	137814502	137814502	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:137814502C>A	ENST00000409968.1	+	3	830	c.652C>A	c.(652-654)Cca>Aca	p.P218T	THSD7B_ENST00000413152.2_Missense_Mutation_p.P187T|THSD7B_ENST00000272643.3_Missense_Mutation_p.P218T|THSD7B_ENST00000543459.1_Missense_Mutation_p.P77T					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTTGCAATGTCCAAATCTGAC	0.478000													58	136					1.22119e-34	1.53856e-34	0.014410	1	0
CD248	57124	broad.mit.edu	37	11	66083586	66083586	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083586C>A	ENST00000311330.3	-	1	929	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	305						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCGGATCATCCTCCGCTGGC	0.617000													12	25					1.05317e-09	1.22321e-09	0.020292	1	0
SULF1	23213	broad.mit.edu	37	8	70517085	70517085	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:70517085C>G	ENST00000260128.4	+	13	2012	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*	SULF1_ENST00000458141.2_Nonsense_Mutation_p.S432*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.S432*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.S432*|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	432					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATCCAACAGTCAAATCACTTG	0.463000													29	49					0	0	0.030593	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574583	60574583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:60574583C>T	ENST00000406854.1	+	2	781	c.227C>T	c.(226-228)tCa>tTa	p.S76L	PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S76L|PCNXL4_ENST00000391611.2_Missense_Mutation_p.S76L|PCNXL4_ENST00000317623.4_Intron					pecanex-like 4 (Drosophila)																		GCAGCACTTTCAGGTGGATTA	0.368000													10	20					0	0	0.006214	0	0
CES2	8824	broad.mit.edu	37	16	66975087	66975087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:66975087C>T	ENST00000317091.4	+	6	2053	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	CES2_ENST00000417689.1_Missense_Mutation_p.R357W	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	293					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGGCTGCCTGCGGGGCAAGAG	0.572000													3	43					0	0	0.009096	0	0
C12orf4	57102	broad.mit.edu	37	12	4627336	4627336	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:4627336A>T	ENST00000261250.3	-	8	1008	c.921T>A	c.(919-921)agT>agA	p.S307R	C12orf4_ENST00000545746.1_Missense_Mutation_p.S307R	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	307										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GTTTCACACCACTTCGATGAT	0.413000													55	67					0	0	0.014410	0	0
CD248	57124	broad.mit.edu	37	11	66083845	66083845	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083845C>T	ENST00000311330.3	-	1	670	c.654G>A	c.(652-654)gaG>gaA	p.E218E	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	218	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCACACCTCCCTCAGGCTGCT	0.662000													25	20					0	0	0.024334	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175998	140175998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:140175998C>A	ENST00000526136.1	+	1	1449	c.1449C>A	c.(1447-1449)gaC>gaA	p.D483E	PCDHA2_ENST00000520672.2_Missense_Mutation_p.D483E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D483E|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGCGGACGCGCAGGAGA	0.657000													38	82					7.05121e-23	8.73567e-23	0.039052	1	0
ESCO2	157570	broad.mit.edu	37	8	27657230	27657230	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:27657230T>G	ENST00000305188.8	+	10	1908	c.1670T>G	c.(1669-1671)cTc>cGc	p.L557R	ESCO2_ENST00000397418.2_Missense_Mutation_p.L205R	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	557					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTGATACCCTCAGGTAAGAA	0.428000									SC Phocomelia syndrome				26	53					0	0	0.037714	0	0
SYNJ1	8867	broad.mit.edu	37	21	34099218	34099218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr21:34099218C>T	ENST00000382499.2	-	2	105	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SYNJ1_ENST00000357345.3_5'UTR|SYNJ1_ENST00000382491.3_5'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E36K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	0							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCCTTTCTTCGGAGGCAGCC	0.488000													24	46					0	0	0.037714	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144112	65144112	+	Silent	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:65144112T>A	ENST00000417511.2	-	10	1641	c.507A>T	c.(505-507)gcA>gcT	p.A169A	SLC25A45_ENST00000534028.1_Silent_p.A187A|SLC25A45_ENST00000377152.2_Silent_p.A107A|SLC25A45_ENST00000398802.1_Silent_p.A211A|SLC25A45_ENST00000294187.6_Silent_p.A169A|SLC25A45_ENST00000527174.1_Silent_p.A211A|SLC25A45_ENST00000526432.1_Silent_p.A149A|SLC25A45_ENST00000360662.3_Silent_p.A187A	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	211					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						AAGCAATGCCTGCAAAGCCCC	0.612000													30	19					0	0	0.041601	0	0
MYH9	4627	broad.mit.edu	37	22	36701124	36701124	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:36701124G>T	ENST00000216181.5	-	18	2414	c.2184C>A	c.(2182-2184)tcC>tcA	p.S728S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	728	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTTGGGAATGGAGTTTGGAG	0.537000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				20	45					2.37509e-13	2.81726e-13	0.010504	1	0
CD248	57124	broad.mit.edu	37	11	66083548	66083548	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66083548C>G	ENST00000311330.3	-	1	967	c.951G>C	c.(949-951)caG>caC	p.Q317H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	317	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CACCGGCAATCTGGCACTCAT	0.597000													13	29					0	0	0.028581	0	0
ACN9	57001	broad.mit.edu	37	7	96747113	96747113	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:96747113C>T	ENST00000432641.2	+	1	1212	c.78C>T	c.(76-78)gaC>gaT	p.D26D	ACN9_ENST00000360382.4_Silent_p.D26D	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	26					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TGCCCCCGGACCTCAAATCCC	0.597000													16	58					0	0	0.028581	0	0
GRB7	2886	broad.mit.edu	37	17	37899470	37899470	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:37899470G>T	ENST00000309156.4	+	5	758	c.501G>T	c.(499-501)gtG>gtT	p.V167V	GRB7_ENST00000394204.1_Silent_p.V167V|GRB7_ENST00000394209.2_Silent_p.V167V|GRB7_ENST00000309185.3_Silent_p.V167V|GRB7_ENST00000445327.2_Silent_p.V190V|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Silent_p.V167V	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	167	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGTGGAAGTGCAGGCTGCCT	0.582000													8	82					2.17888e-05	2.39354e-05	0.006214	1	0
OR2T1	26696	broad.mit.edu	37	1	248569576	248569576	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:248569576T>A	ENST00000366474.1	+	1	281	c.281T>A	c.(280-282)gTt>gAt	p.V94D		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	94					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)			GCCAATGGGGTTATGATCTTC	0.428000													20	136					0	0	0.010504	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													4	27					0	0	0.009096	0	0
CDH18	1016	broad.mit.edu	37	5	19571938	19571938	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:19571938G>T	ENST00000507958.1	-	10	1993	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	CDH18_ENST00000382275.1_Missense_Mutation_p.L335M|CDH18_ENST00000502796.1_Missense_Mutation_p.L335M|CDH18_ENST00000511273.1_Missense_Mutation_p.L335M|CDH18_ENST00000506372.1_Missense_Mutation_p.L335M|CDH18_ENST00000274170.4_Missense_Mutation_p.L335M			Q13634	CAD18_HUMAN	cadherin 18, type 2	335	Cadherin 3.				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)					TCATAGTTCAGTGGCTGTGGG	0.299000													14	20					1.49906e-05	1.6549e-05	0.020292	1	0
HECTD1	25831	broad.mit.edu	37	14	31626071	31626071	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:31626071T>G	ENST00000399332.1	-	12	2395	c.1907A>C	c.(1906-1908)aAt>aCt	p.N636T	HECTD1_ENST00000553700.1_Missense_Mutation_p.N636T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	636					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCCTCTTCATTCTCATCATC	0.343000													25	36					0	0	0.024334	0	0
ACOT11	26027	broad.mit.edu	37	1	55064970	55064970	+	Splice_Site	SNP	C	C	T	rs148238018	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:55064970C>T	ENST00000371316.3	+	8	848	c.764_splice	c.e8-1	p.R256_splice	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Splice_Site_p.R256_splice	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	256	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCTCCTCAGCCGGCTCTGCCG	0.522000													18	27					0	0	0.038395	0	0
COL6A6	131873	broad.mit.edu	37	3	130283910	130283910	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:130283910T>C	ENST00000358511.6	+	3	765	c.734T>C	c.(733-735)tTt>tCt	p.F245S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F245S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	245	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGGAGAACTTTGACTATCTT	0.418000													43	83					0	0	0.030466	0	0
KLHL24	54800	broad.mit.edu	37	3	183369021	183369021	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr3:183369021A>G	ENST00000454652.1	+	4	1263	c.877A>G	c.(877-879)Ata>Gta	p.I293V	KLHL24_ENST00000476808.1_Missense_Mutation_p.I293V|KLHL24_ENST00000242810.6_Missense_Mutation_p.I293V			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	293						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACGGTACCACATACTTGGGAA	0.388000													13	48					0	0	0.020292	0	0
KSR2	283455	broad.mit.edu	37	12	117968797	117968797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:117968797G>A	ENST00000425217.1	-	12	1718	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	KSR2_ENST00000302438.5_Missense_Mutation_p.T281M|KSR2_ENST00000339824.5_Missense_Mutation_p.T584M|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	584					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGTCGGCGTCTCCGGCAC	0.562000													51	94					0	0	0.014410	0	0
SNW1	22938	broad.mit.edu	37	14	78184661	78184661	+	Missense_Mutation	SNP	T	T	G	rs17825620	by1000genomes	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:78184661T>G	ENST00000555761.1	-	13	1489	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000261531.7_Intron			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TATGAACTACTTTGCTTTCAC	0.438000													4	107					0	0	0.009096	0	0
NDUFA6	4700	broad.mit.edu	37	22	42482286	42482286	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr22:42482286T>C	ENST00000498737.2	-	3	498	c.366A>G	c.(364-366)gtA>gtG	p.V122V	NDUFA6_ENST00000470753.1_Silent_p.V39V|NDUFA6_ENST00000602404.1_Silent_p.V96V|SMDT1_ENST00000547929.1_Intron	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	122					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	GCTGCTTCCATACTTTAATTG	0.453000													28	59					0	0	0.027356	0	0
COPZ1	22818	broad.mit.edu	37	12	54744278	54744278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:54744278G>A	ENST00000262061.2	+	9	542	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000552218.1_Missense_Mutation_p.E190K|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000549043.1_Missense_Mutation_p.E177K|COPZ1_ENST00000552362.1_Missense_Mutation_p.E152K|COPZ1_ENST00000416254.2_Missense_Mutation_p.E118K|COPZ1_ENST00000548753.1_Missense_Mutation_p.E81K|COPZ1_ENST00000455864.2_Missense_Mutation_p.E146K|COPZ1_ENST00000549116.1_Missense_Mutation_p.E111K	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	169					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						GTCAGCCAAAGAACAGATCAA	0.493000													10	148					0	0	0.006214	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694538	99694538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr9:99694538G>C	ENST00000354649.3	+	2	1266	c.551G>C	c.(550-552)gGa>gCa	p.G184A	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.G184A	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGGGCTCATGGAGAGGGCAGC	0.647000													19	110					0	0	0.016522	0	0
GLRA1	2741	broad.mit.edu	37	5	151202317	151202317	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:151202317A>C	ENST00000274576.4	-	9	1559	c.1267T>G	c.(1267-1269)Ttc>Gtc	p.F423V	GLRA1_ENST00000545569.1_Missense_Mutation_p.F340V|GLRA1_ENST00000455880.2_Missense_Mutation_p.F431V	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	431					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCATGGGGAAGCCAATGCGG	0.507000													26	42					0	0	0.021523	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106781395	106781395	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:106781395A>T	ENST00000265717.4	+	5	843	c.584A>T	c.(583-585)gAt>gTt	p.D195V	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	195					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TATGTAATTGATAGGTAAGTT	0.348000													15	28					0	0	0.020292	0	0
CUL3	8452	broad.mit.edu	37	2	225368470	225368470	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:225368470C>G	ENST00000264414.4	-	9	1614	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	CUL3_ENST00000344951.4_Missense_Mutation_p.D360H|CUL3_ENST00000409096.1_Missense_Mutation_p.D402H|CUL3_ENST00000409777.1_Missense_Mutation_p.D402H	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	426					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAATACATCTTTTTCTTGC	0.294000													7	4					0	0	0.029380	0	0
PARP12	64761	broad.mit.edu	37	7	139727186	139727186	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr7:139727186G>T	ENST00000263549.3	-	10	2391	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	506	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACTCTTCCGAGGAAGAACTAA	0.448000													19	55					2.94398e-08	3.34953e-08	0.043863	1	0
AJUBA	84962	broad.mit.edu	37	14	23450641	23450641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr14:23450641C>A	ENST00000262713.2	-	1	1210	c.835G>T	c.(835-837)Gag>Tag	p.E279*	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.E279*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	279	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GCTGTTAGCTCGTCCTGGTAC	0.711000													7	15					8.12818e-05	8.75645e-05	0.029380	1	0
CSMD3	114788	broad.mit.edu	37	8	113988125	113988125	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr8:113988125C>G	ENST00000297405.5	-	7	1527	c.1283G>C	c.(1282-1284)aGa>aCa	p.R428T	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R428T|CSMD3_ENST00000343508.3_Missense_Mutation_p.R388T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	428						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						ATGTCTTGGTCTTCTCCTGGT	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	92					0	0	0.015359	0	0
TPCN2	219931	broad.mit.edu	37	11	68835058	68835058	+	Missense_Mutation	SNP	G	G	A	rs142288453	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:68835058G>A	ENST00000294309.3	+	8	915	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	TPCN2_ENST00000542467.1_Missense_Mutation_p.A272T|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	272					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGACCACGGCCAACAACCC	0.637000													12	366					0	0	0.020292	0	0
ELMO3	79767	broad.mit.edu	37	16	67234109	67234109	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr16:67234109G>A	ENST00000393997.2	+	5	474	c.417G>A	c.(415-417)gaG>gaA	p.E139E	ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000360833.1_Silent_p.E122E|ELMO3_ENST00000571638.1_3'UTR	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	86					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTGAGGCTGAGCAGCTCTTGG	0.642000													7	7					0	0	0.029380	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324299	128324299	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:128324299C>T	ENST00000262462.4	+	3	1702	c.692C>T	c.(691-693)cCa>cTa	p.P231L	SLC27A6_ENST00000395266.1_Missense_Mutation_p.P231L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P231L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	231				P -> S (in Ref. 3; CAG33410).	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CCAGGTCTACCAAAAGCAGCT	0.368000													30	32					0	0	0.041601	0	0
CD248	57124	broad.mit.edu	37	11	66084045	66084045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:66084045C>T	ENST00000311330.3	-	1	470	c.454G>A	c.(454-456)Gac>Aac	p.D152N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	152	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGGTAGCCGTCGACAGCCAGC	0.716000													17	15					0	0	0.038395	0	0
ZNF573	126231	broad.mit.edu	37	19	38262306	38262306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:38262306C>T	ENST00000590414.2	-	2	121	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000339503.4_5'UTR			Q86YE8	ZN573_HUMAN	zinc finger protein 573	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AAGTCTATGGCCACATCCCTG	0.408000													6	22					0	0	0.038147	0	0
HELZ	9931	broad.mit.edu	37	17	65186378	65186378	+	Silent	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:65186378T>G	ENST00000358691.5	-	10	817	c.651A>C	c.(649-651)tcA>tcC	p.S217S	HELZ_ENST00000580168.1_Silent_p.S217S|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTATCAGCCGTGAAGCATATC	0.393000													12	50					0	0	0.016723	0	0
LAMA4	3910	broad.mit.edu	37	6	112493962	112493962	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr6:112493962G>C	ENST00000230538.7	-	12	1799	c.1402C>G	c.(1402-1404)Cgc>Ggc	p.R468G	LAMA4_ENST00000389463.4_Missense_Mutation_p.R461G|LAMA4_ENST00000522006.1_Missense_Mutation_p.R461G|LAMA4_ENST00000424408.2_Missense_Mutation_p.R461G	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	468	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACAGAGTGCGGGTCTCATTG	0.527000													4	29					0	0	0.014758	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532554	71532554	+	Missense_Mutation	SNP	C	C	T	rs146846422		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr9:71532554C>T	ENST00000265382.3	+	9	1167	c.862C>T	c.(862-864)Cca>Tca	p.P288S	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P288S	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	288	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GGAGGAGACCCCACAAAATGT	0.473000													163	56					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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)		TGAGGATGGGCCTCCGGTTCA	0.572000		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)			38	19					7.63091e-17	9.25451e-17	0.030466	1	0
HERC2	8924	broad.mit.edu	37	15	28389228	28389228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:28389228G>A	ENST00000261609.7	-	73	11402	c.11294C>T	c.(11293-11295)gCc>gTc	p.A3765V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3765					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)		TTTACCTAGGGCACTCAGCTG	0.507000													30	64					0	0	0.015359	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487466	110487466	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:110487466A>G	ENST00000378402.5	+	51	8829	c.8725A>G	c.(8725-8727)Att>Gtt	p.I2909V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2909					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATAACCAACATTTCATATAC	0.338000										HNSCC(38;0.096)			6	29					0	0	0.021553	0	0
POLG	5428	broad.mit.edu	37	15	89876485	89876485	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:89876485C>T	ENST00000268124.5	-	2	834	c.501G>A	c.(499-501)ccG>ccA	p.P167P	POLG_ENST00000442287.2_Silent_p.P167P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	167					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			AGGCCCAAGCCGGGGGCTTCG	0.726000								DNA polymerases (catalytic subunits)					8	15					0	0	0.004482	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750142	140750142	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:140750142T>G	ENST00000576222.1	+	1	312	c.181T>G	c.(181-183)Tta>Gta	p.L61V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_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)			CGTGGGGGATTTACCTACTAG	0.557000													6	142					0	0	0.021553	0	0
KCNH7	90134	broad.mit.edu	37	2	163374317	163374317	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:163374317C>A	ENST00000332142.5	-	4	914	c.815G>T	c.(814-816)aGa>aTa	p.R272I	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R272I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	272					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)	CGAAGATGCTCTCCGTATACT	0.458000													5	53					5.9392e-07	6.67063e-07	0.021553	1	0
PSMB5	5693	broad.mit.edu	37	14	23502633	23502633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:23502633T>C	ENST00000361611.6	-	2	712	c.449A>G	c.(448-450)aAa>aGa	p.K150R	PSMB5_ENST00000493471.2_Missense_Mutation_p.K150R|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000425762.2_Missense_Mutation_p.K47R	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CCCCATGCCTTTGTACTGATA	0.517000													33	69					0	0	0.019004	0	0
ODF3	113746	broad.mit.edu	37	11	197593	197593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:197593G>A	ENST00000325113.4	+	3	459	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ODF3_ENST00000525282.1_Missense_Mutation_p.A48T|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_Missense_Mutation_p.A48T	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	48					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAGCTGCGTGCACCGGCCTA	0.637000													20	23					0	0	0.010504	0	0
SLC35F4	341880	broad.mit.edu	37	14	58036671	58036671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:58036671C>A	ENST00000556826.1	-	6	1197	c.961G>T	c.(961-963)Gcc>Tcc	p.A321S	SLC35F4_ENST00000339762.6_Missense_Mutation_p.A357S|SLC35F4_ENST00000554729.1_Missense_Mutation_p.A198S	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAGTTGGCACTTCCAAGA	0.428000													9	12					0.00829132	0.00863206	0.008291	1	0
BRSK1	84446	broad.mit.edu	37	19	55805723	55805723	+	Silent	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:55805723A>C	ENST00000309383.1	+	7	913	c.636A>C	c.(634-636)gcA>gcC	p.A212A	BRSK1_ENST00000590333.1_Silent_p.A228A|BRSK1_ENST00000585418.1_Silent_p.A212A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	212	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCGCCGGGCAGACATGTGGA	0.587000													10	24					0	0	0.008291	0	0
MLNR	2862	broad.mit.edu	37	13	49796405	49796405	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr13:49796405G>A	ENST00000218721.1	+	2	1131	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	377					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AGTCCAGGCCGAGAGGCTTCC	0.552000													29	15					0	0	0.027356	0	0
CD248	57124	broad.mit.edu	37	11	66083527	66083527	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083527C>T	ENST00000311330.3	-	1	988	c.972G>A	c.(970-972)caG>caA	p.Q324Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	324	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGACACACATCTGCTGGCACA	0.602000													17	31					0	0	0.008871	0	0
RIPK4	54101	broad.mit.edu	37	21	43166824	43166824	+	Missense_Mutation	SNP	G	G	A	rs67846875		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr21:43166824G>A	ENST00000352483.2	-	5	845	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	RIPK4_ENST00000542057.1_Missense_Mutation_p.L198F|RIPK4_ENST00000544709.1_Missense_Mutation_p.L198F|RIPK4_ENST00000332512.3_Missense_Mutation_p.L261F			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	261						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCTGCATGAGGCGTATCAGG	0.672000													22	42					0	0	0.021523	0	0
ASPM	259266	broad.mit.edu	37	1	197091324	197091324	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:197091324G>T	ENST00000367409.4	-	15	3962	c.3706C>A	c.(3706-3708)Cat>Aat	p.H1236N	ASPM_ENST00000294732.7_Missense_Mutation_p.H1236N|ASPM_ENST00000367408.1_Missense_Mutation_p.H486N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1236					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						ATATCTGAATGATTAATCATA	0.308000													10	40					0.000978159	0.0010373	0.010729	1	0
CD248	57124	broad.mit.edu	37	11	66083267	66083267	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083267C>G	ENST00000311330.3	-	1	1248	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	411	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GAAGCTCGGTCTATAGGCCAG	0.647000													24	95					0	0	0.014410	0	0
SORCS3	22986	broad.mit.edu	37	10	106982948	106982948	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:106982948G>A	ENST00000369701.3	+	20	3036	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	937						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)		CAGTGCAGTCGTGTGGCCCAG	0.448000													50	53					0	0	0.014410	0	0
IQCC	55721	broad.mit.edu	37	1	32671343	32671343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:32671343G>A	ENST00000537469.1	+	1	108	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000291358.6_Intron	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	31	IQ.									endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGGGCGCGGGGTTCACAGGA	0.632000													3	8					0	0	0.009096	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801094	44801094	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr7:44801094T>C	ENST00000309315.4	+	10	1410	c.1287T>C	c.(1285-1287)gaT>gaC	p.D429D	ZMIZ2_ENST00000413916.1_Silent_p.D371D|ZMIZ2_ENST00000433667.1_Silent_p.D397D|ZMIZ2_ENST00000441627.1_Silent_p.D429D|ZMIZ2_ENST00000265346.7_Silent_p.D403D	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	429					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGTGCGCGATGGGGTGGTCC	0.612000													5	80					0	0	0.014758	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587132	15587132	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:15587132A>T	ENST00000292609.4	-	2	478	c.349T>A	c.(349-351)Tcg>Acg	p.S117T	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S117T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	117					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACGGTCGAGCCATCAGGT	0.627000													43	68					0	0	0.014410	0	0
BTBD3	22903	broad.mit.edu	37	20	11903683	11903683	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr20:11903683T>A	ENST00000405977.1	+	5	1563	c.938T>A	c.(937-939)cTa>cAa	p.L313Q	BTBD3_ENST00000254977.3_Missense_Mutation_p.L252Q|BTBD3_ENST00000378226.2_Missense_Mutation_p.L313Q|BTBD3_ENST00000399006.2_Missense_Mutation_p.L252Q			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	313										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGCAAGGTTCTAGGAAAGGCA	0.463000													37	37					0	0	0.021022	0	0
MICB	4277	broad.mit.edu	37	6	31473459	31473459	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr6:31473459C>A	ENST00000252229.6	+	2	215	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	MICB_ENST00000538442.1_Missense_Mutation_p.L14I|MICB_ENST00000399150.3_Missense_Mutation_p.L46I	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	46					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GTCAGGGTTTCTCGCTGAGGG	0.562000													27	19					2.4375e-19	2.9879e-19	0.034045	1	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249400	71249400	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:71249400G>T	ENST00000398534.3	+	1	330	c.299G>T	c.(298-300)tGt>tTt	p.C100F		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	100	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TCCTCAGGCTGTGGGTCATCC	0.612000													72	504					3.79363e-24	4.70081e-24	0.014410	1	0
ZNF521	25925	broad.mit.edu	37	18	22806653	22806653	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr18:22806653C>A	ENST00000361524.3	-	4	1377	c.1229G>T	c.(1228-1230)tGc>tTc	p.C410F	ZNF521_ENST00000584787.1_Missense_Mutation_p.C190F|ZNF521_ENST00000538137.2_Missense_Mutation_p.C410F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	410					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTGTTTGTTGCAGTAAATACA	0.438000			T	PAX5	ALL								27	44					6.32553e-13	7.43413e-13	0.024334	1	0
C5	727	broad.mit.edu	37	9	123797114	123797114	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr9:123797114G>C	ENST00000223642.1	-	5	580	c.551C>G	c.(550-552)tCt>tGt	p.S184C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	184					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GTCAGGAAAAGAGATAATTCC	0.353000													12	22					0	0	0.016723	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923490	78923490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:78923490C>T	ENST00000261751.3	-	4	398	c.287G>A	c.(286-288)cGc>cAc	p.R96H	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R96H|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	96					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACCCTCGTAGCGGGAGCTGTT	0.577000													27	72					0	0	0.030593	0	0
HSPH1	10808	broad.mit.edu	37	13	31711647	31711647	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr13:31711647T>C	ENST00000320027.5	-	18	2729	c.2385A>G	c.(2383-2385)acA>acG	p.T795T	HSPH1_ENST00000445273.2_Silent_p.T797T|HSPH1_ENST00000429785.2_Silent_p.T614T|HSPH1_ENST00000380405.4_Silent_p.T751T|HSPH1_ENST00000380406.5_Silent_p.T754T	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	795					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGGGTTCACATGTGTTGTTCA	0.358000													23	22					0	0	0.018920	0	0
CD248	57124	broad.mit.edu	37	11	66083928	66083928	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083928C>G	ENST00000311330.3	-	1	587	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	191	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGCAGCCACTCAAACTCTGTG	0.677000													12	22					0	0	0.013537	0	0
MYH10	4628	broad.mit.edu	37	17	8383589	8383589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:8383589C>A	ENST00000360416.3	-	40	5574	c.5436G>T	c.(5434-5436)caG>caT	p.Q1812H	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.Q1797H|MYH10_ENST00000396239.1_Missense_Mutation_p.Q1802H|MYH10_ENST00000269243.4_Missense_Mutation_p.Q1781H	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1781					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTCACTCTTCTGGGCGGCGC	0.592000													33	71					1.57351e-24	1.96044e-24	0.017118	1	0
CD248	57124	broad.mit.edu	37	11	66083244	66083244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083244C>T	ENST00000311330.3	-	1	1271	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	419	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ATCTGTGGCTCTCTGTCCTCT	0.657000													28	107					0	0	0.014410	0	0
GJA1	2697	broad.mit.edu	37	6	121768632	121768632	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr6:121768632G>T	ENST00000282561.3	+	2	796	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	213					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCATCTTCATGCTGGTGGTGT	0.488000													47	78					2.27781e-18	2.77722e-18	0.014410	1	0
RP11-45M22.4	0	broad.mit.edu	37	17	17120410	17120410	+	Missense_Mutation	SNP	G	G	A	rs150752548		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:17120410G>A	ENST00000427497.3	-	6	771	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	FLCN_ENST00000285071.4_Silent_p.L383L																							CTGACTGGACGAGGTCCACGT	0.567000													12	29					0	0	0.013537	0	0
HS1BP3	64342	broad.mit.edu	37	2	20818936	20818936	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:20818936G>T	ENST00000304031.3	-	7	1015	c.990C>A	c.(988-990)ccC>ccA	p.P330P		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	330	Pro-rich.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTggcttgggcttaagct	0.602000													37	67					1.90571e-15	2.28685e-15	0.019004	1	0
MBD1	4152	broad.mit.edu	37	18	47799236	47799236	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr18:47799236T>C	ENST00000591416.1	-	14	2105	c.1674A>G	c.(1672-1674)aaA>aaG	p.K558K	MBD1_ENST00000398493.1_Silent_p.K502K|MBD1_ENST00000590208.1_Silent_p.K558K|MBD1_ENST00000585672.1_Silent_p.K508K|MBD1_ENST00000585595.1_Silent_p.K583K|MBD1_ENST00000398495.2_Silent_p.K527K|MBD1_ENST00000457839.2_Silent_p.K583K|MBD1_ENST00000436910.1_Silent_p.K489K|MBD1_ENST00000398488.1_Silent_p.K456K|MBD1_ENST00000588937.1_Silent_p.K489K|MBD1_ENST00000587605.1_Silent_p.K456K|MBD1_ENST00000382948.5_Silent_p.K558K|MBD1_ENST00000353909.3_Silent_p.K509K|MBD1_ENST00000349085.2_Silent_p.K456K|MBD1_ENST00000347968.3_Silent_p.K502K|MBD1_ENST00000269468.5_Silent_p.K558K|MBD1_ENST00000269471.5_Silent_p.K489K|MBD1_ENST00000424334.2_Silent_p.K609K|MBD1_ENST00000591535.1_Silent_p.K489K|MBD1_ENST00000339998.6_Silent_p.K512K			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	558	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGGCCAATTTGGAGGCAG	0.607000													3	49					0	0	0.004672	0	0
NPAP1	23742	broad.mit.edu	37	15	24921325	24921325	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:24921325A>C	ENST00000329468.2	+	1	785	c.311A>C	c.(310-312)aAc>aCc	p.N104T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGCTCGGAACCCCCCGAGG	0.682000													4	49					0	0	0.009096	0	0
MNT	4335	broad.mit.edu	37	17	2290453	2290453	+	Silent	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:2290453G>C	ENST00000174618.4	-	6	1896	c.1491C>G	c.(1489-1491)acC>acG	p.T497T		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	497					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CATGGTTGAGGGTGGCAGGGT	0.682000													7	5					0	0	0.004482	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203786208	203786208	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:203786208C>G	ENST00000545588.1	+	2	3837	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q4E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	4							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CATGCCTAATCAAGGAGAAGA	0.388000													16	89					0	0	0.038395	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779477	97779477	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:97779477C>G	ENST00000344386.3	+	8	840	c.676C>G	c.(676-678)Caa>Gaa	p.Q226E	CC2D2B_ENST00000410012.2_Missense_Mutation_p.Q226E|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	226										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TAATATTCAACAAAATAATAC	0.333000													34	126					0	0	0.012213	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													3	54					0	0	0.009096	0	0
FUT2	2524	broad.mit.edu	37	19	49206855	49206855	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:49206855G>C	ENST00000425340.2	+	2	759	c.642G>C	c.(640-642)aaG>aaC	p.K214N	FUT2_ENST00000391876.4_Missense_Mutation_p.K214N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	214					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AAGTGTGGAAGGGGGTGGTGG	0.627000													34	54					0	0	0.019004	0	0
TBCK	93627	broad.mit.edu	37	4	107165855	107165855	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr4:107165855C>G	ENST00000273980.4	-	12	1445	c.998G>C	c.(997-999)gGa>gCa	p.G333A	TBCK_ENST00000394706.3_Missense_Mutation_p.G294A|TBCK_ENST00000432496.2_Missense_Mutation_p.G333A|TBCK_ENST00000394708.2_Missense_Mutation_p.G333A|TBCK_ENST00000361687.4_Missense_Mutation_p.G270A			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	333						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CAAGTCACCTCCAGCCAAACA	0.363000													18	12					0	0	0.043863	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21029378	21029378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr9:21029378G>A	ENST00000495827.1	-	2	103	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.L20F	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	20					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TAGATGAAAAGATACGCATTC	0.328000													23	73					0	0	0.016522	0	0
SNX4	8723	broad.mit.edu	37	3	125172710	125172710	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:125172710T>C	ENST00000251775.4	-	12	1158	c.1134A>G	c.(1132-1134)ctA>ctG	p.L378L	SNX4_ENST00000536067.1_Silent_p.L233L	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	378					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTTGTTCTTCTAGCACCTTTA	0.393000													20	46					0	0	0.012319	0	0
ZNF750	79755	broad.mit.edu	37	17	80790003	80790003	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:80790003C>G	ENST00000269394.3	-	2	1161	c.328G>C	c.(328-330)Gac>Cac	p.D110H	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	110						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCTTGATGTCTTCCCTGGCA	0.612000													9	55					0	0	0.008291	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747722	167747722	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:167747722G>C	ENST00000470487.1	-	10	1968	c.1279C>G	c.(1279-1281)Ctg>Gtg	p.L427V	GOLIM4_ENST00000309027.4_Missense_Mutation_p.L399V	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	427	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						tgttcccgcagctgctgGGCC	0.577000													30	112					0	0	0.045705	0	0
ZNF394	84124	broad.mit.edu	37	7	99091989	99091989	+	Silent	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr7:99091989A>G	ENST00000337673.6	-	3	1052	c.849T>C	c.(847-849)aaT>aaC	p.N283N	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	283					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAATTCATTATTTTTAGAGT	0.458000													9	103					0	0	0.004482	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141630	133141630	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:133141630A>T	ENST00000388996.4	-	15	2918	c.2498T>A	c.(2497-2499)cTc>cAc	p.L833H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L821H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L713H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	833					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACCCTCGGCGAGGTACCGCTT	0.597000													8	34					0	0	0.004482	0	0
COL12A1	1303	broad.mit.edu	37	6	75851809	75851809	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr6:75851809G>A	ENST00000322507.8	-	27	5205	c.4896C>T	c.(4894-4896)gtC>gtT	p.V1632V	COL12A1_ENST00000483888.2_Silent_p.V1632V|COL12A1_ENST00000416123.2_Silent_p.V1632V|COL12A1_ENST00000345356.6_Silent_p.V468V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1632	Fibronectin type-III 11.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGAAACGCTGACTGTGTACA	0.493000													47	61					0	0	0.014410	0	0
PIGS	94005	broad.mit.edu	37	17	26882020	26882020	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:26882020G>C	ENST00000308360.7	-	11	1616	c.1241C>G	c.(1240-1242)aCg>aGg	p.T414R	PIGS_ENST00000395346.2_Missense_Mutation_p.T406R|PIGS_ENST00000543734.1_Missense_Mutation_p.T353R	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	414					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTTCACTCGTAGGCCCTGA	0.592000													18	25					0	0	0.043863	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426165	71426165	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chrX:71426165A>C	ENST00000373657.1	-	3	2685	c.2083T>G	c.(2083-2085)Ttt>Gtt	p.F695V	ERCC6L_ENST00000334463.3_Missense_Mutation_p.F818V|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	818					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACACTTCCAAACCCCTTTGGT	0.383000													23	10					0	0	0.014323	0	0
SRRM1	10250	broad.mit.edu	37	1	24978993	24978993	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:24978993C>G	ENST00000323848.9	+	7	1109	c.794C>G	c.(793-795)tCc>tGc	p.S265C	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.S265C|SRRM1_ENST00000537199.1_Missense_Mutation_p.S134C|SRRM1_ENST00000447431.2_Missense_Mutation_p.S265C	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	265	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAAAAAAATTCCAAAAAAGAA	0.448000													10	11					0	0	0.006214	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554847	40554847	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:40554847A>G	ENST00000297737.6	-	4	412	c.266T>C	c.(265-267)gTg>gCg	p.V89A	ZMAT4_ENST00000315769.7_Missense_Mutation_p.V89A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	89						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GGAATCGGCCACCACCGCTGA	0.502000													23	62					0	0	0.014323	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988170	135988170	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:135988170C>G	ENST00000401392.1	-	13	2079	c.1867G>C	c.(1867-1869)Gag>Cag	p.E623Q	ZRANB3_ENST00000536680.1_Missense_Mutation_p.E623Q|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E623Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	623						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGCCAGCCCTCTACAGGAAAG	0.488000													21	35					0	0	0.010504	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409554	17409554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:17409554G>A	ENST00000339994.4	-	1	652	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	KCNJ11_ENST00000528731.1_Intron	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CTCCGCTGGCGGGCACGGTAC	0.652000													24	50					0	0	0.018920	0	0
VPS13B	157680	broad.mit.edu	37	8	100880545	100880545	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:100880545G>A	ENST00000358544.2	+	59	11430	c.11319G>A	c.(11317-11319)ccG>ccA	p.P3773P	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P3748P	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3773					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGATCAGCCGATGCAGAACT	0.493000													17	50					0	0	0.033300	0	0
NBPF9	400818	broad.mit.edu	37	1	144828684	144828684	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:144828684A>G	ENST00000338347.4	+	14	1730	c.1730A>G	c.(1729-1731)cAg>cGg	p.Q577R	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Q175R					neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TTTGAGGAACAGCACATCAGC	0.433000													11	388					0	0	0.020292	0	0
ACIN1	22985	broad.mit.edu	37	14	23535181	23535181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:23535181C>T	ENST00000262710.1	-	10	2803	c.2476G>A	c.(2476-2478)Gtt>Att	p.V826I	ACIN1_ENST00000555053.1_Missense_Mutation_p.V826I|ACIN1_ENST00000605057.1_Missense_Mutation_p.V768I|ACIN1_ENST00000457657.1_Missense_Mutation_p.V786I|ACIN1_ENST00000397341.3_Missense_Mutation_p.V68I|ACIN1_ENST00000557515.1_Missense_Mutation_p.V68I|ACIN1_ENST00000357481.2_Missense_Mutation_p.V68I|ACIN1_ENST00000338631.6_Missense_Mutation_p.V99I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	826					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTACAGACAACGGAGATCTTC	0.433000													15	39					0	0	0.043863	0	0
TNNI2	7136	broad.mit.edu	37	11	1862048	1862048	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:1862048G>A	ENST00000381906.1	+	6	255		c.e6-1		TNNI2_ENST00000381905.3_Splice_Site|TNNI2_ENST00000381911.1_Splice_Site|TNNI2_ENST00000252898.7_Splice_Site	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)						muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACCCCTAGGAGCTCTGCA	0.637000													7	10					0	0	0.038147	0	0
CD248	57124	broad.mit.edu	37	11	66084084	66084084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66084084C>T	ENST00000311330.3	-	1	431	c.415G>A	c.(415-417)Gag>Aag	p.E139K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	139	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAGCGGTGCTCGCCACTTGCC	0.706000													21	17					0	0	0.014323	0	0
LPAR4	2846	broad.mit.edu	37	X	78011180	78011180	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chrX:78011180T>G	ENST00000435339.2	+	2	1219	c.814T>G	c.(814-816)Tat>Gat	p.Y272D	LPAR4_ENST00000373301.2_Missense_Mutation_p.Y272D	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	272						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTTCTTGTATGCCCTGGT	0.408000													21	9					0	0	0.010504	0	0
CST9L	128821	broad.mit.edu	37	20	23545618	23545618	+	Silent	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr20:23545618G>C	ENST00000376979.3	-	3	709	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	137						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCTTGTTCAGGAGGCTGAACT	0.552000													21	19					0	0	0.018920	0	0
AHCYL2	23382	broad.mit.edu	37	7	129043233	129043233	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr7:129043233G>C	ENST00000325006.3	+	7	986	c.932G>C	c.(931-933)gGa>gCa	p.G311A	AHCYL2_ENST00000446544.2_Missense_Mutation_p.G310A|AHCYL2_ENST00000446212.1_Missense_Mutation_p.G209A|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G208A|AHCYL2_ENST00000531335.2_Missense_Mutation_p.G230A|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G208A	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	311					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTGGATGATGGAGGGGATCTT	0.403000													30	54					0	0	0.012213	0	0
CELSR3	1951	broad.mit.edu	37	3	48694603	48694603	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:48694603G>A	ENST00000544264.1	-	2	4207	c.3927C>T	c.(3925-3927)gaC>gaT	p.D1309D	CELSR3_ENST00000164024.4_Silent_p.D1309D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1309					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGAAGACGTCCTCAGCGG	0.657000													9	14					0	0	0.006214	0	0
SNX33	257364	broad.mit.edu	37	15	75942185	75942185	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:75942185A>G	ENST00000308527.5	+	1	1939	c.742A>G	c.(742-744)Agc>Ggc	p.S248G		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	248	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGGCATCAAAAGCTACATCTC	0.547000													12	212					0	0	0.016723	0	0
UBR2	23304	broad.mit.edu	37	6	42603184	42603184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr6:42603184G>A	ENST00000372901.1	+	14	1832	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	UBR2_ENST00000372899.1_Missense_Mutation_p.G525E|UBR2_ENST00000372883.3_Missense_Mutation_p.G29E			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	525					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGTCAAGTAGGACAACATATT	0.348000													16	10					0	0	0.028581	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283915	101283915	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:101283915T>G	ENST00000309922.6	+	2	444	c.290T>G	c.(289-291)tTc>tGc	p.F97C		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		ACCAGAGAGTTCATTGAGATG	0.403000													14	60					0	0	0.028581	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537590	28537590	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:28537590C>T	ENST00000401766.2	-	10	1904	c.1392G>A	c.(1390-1392)cgG>cgA	p.R464R	SLC6A4_ENST00000261707.3_Silent_p.R464R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	464					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CGAGCACGAACCGCTCCCGGC	0.597000													12	48					0	0	0.013537	0	0
ANKAR	150709	broad.mit.edu	37	2	190584297	190584297	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:190584297G>A	ENST00000520309.1	+	11	2312		c.e11-1		ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTCATTACAGGCACCATTCC	0.313000													4	117					0	0	0.014758	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	21					0	0	0.014758	0	0
KIAA0556	23247	broad.mit.edu	37	16	27765493	27765493	+	Splice_Site	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr16:27765493G>A	ENST00000261588.4	+	18	3571		c.e18-1			NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556											breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CCCATGTGCAGATCCCGGAGC	0.562000													31	30					0	0	0.017118	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569270	99569270	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:99569270A>C	ENST00000331335.5	-	5	1720	c.1250T>G	c.(1249-1251)gTt>gGt	p.V417G	CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_5'UTR|FILIP1L_ENST00000383694.2_Missense_Mutation_p.V177G|FILIP1L_ENST00000471562.1_Missense_Mutation_p.V177G|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.V417G	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	417						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GAGTTTTTCAACCTCTAGTTT	0.368000													45	46					0	0	0.036044	0	0
EXD2	55218	broad.mit.edu	37	14	69704290	69704290	+	Splice_Site	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:69704290A>G	ENST00000409014.1	+	10	1574		c.e10-1		EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000409675.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000409018.3_Splice_Site|EXD2_ENST00000312994.5_Splice_Site	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCTTGTTCCAGGAAGAACGT	0.552000													14	23					0	0	0.024245	0	0
HRASLS2	54979	broad.mit.edu	37	11	63325937	63325937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:63325937G>A	ENST00000255695.1	-	3	372	c.314C>T	c.(313-315)cCt>cTt	p.P105L		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	105					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CAGCGAATAAGGCAACTCCTG	0.547000													12	46					0	0	0.013537	0	0
WNT8A	7478	broad.mit.edu	37	5	137426396	137426396	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:137426396C>T	ENST00000506684.1	+	5	980	c.744C>T	c.(742-744)agC>agT	p.S248S	WNT8A_ENST00000398754.1_Silent_p.S230S			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	230					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGGAACAGCGCCGAGGGCC	0.542000													19	28					0	0	0.038395	0	0
COPB2	9276	broad.mit.edu	37	3	139092255	139092255	+	Splice_Site	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:139092255C>A	ENST00000333188.5	-	9	1076		c.e9-1		COPB2_ENST00000507777.1_Splice_Site	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)						COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CCCGACCAAGCTGAAAGAAAG	0.408000													9	29					3.09899e-07	3.49786e-07	0.004482	1	0
SEL1L	6400	broad.mit.edu	37	14	81965995	81965995	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:81965995A>T	ENST00000336735.4	-	7	905	c.789T>A	c.(787-789)ttT>ttA	p.F263L	SEL1L_ENST00000555824.1_Missense_Mutation_p.F263L	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	263	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AGGCATACAGAAAGCCAAGAG	0.338000													8	34					0	0	0.006214	0	0
JAG1	182	broad.mit.edu	37	20	10620273	10620273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr20:10620273G>A	ENST00000254958.5	-	26	4045	c.3530C>T	c.(3529-3531)aCg>aTg	p.T1177M	JAG1_ENST00000423891.2_Missense_Mutation_p.T1018M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1177					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GTCTACCAGCGTGTACGCCGG	0.507000									Alagille Syndrome				82	41					0	0	0.014410	0	0
TMEM5	10329	broad.mit.edu	37	12	64202512	64202512	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:64202512G>C	ENST00000537373.1	+	6	1140	c.192G>C	c.(190-192)caG>caC	p.Q64H	TMEM5_ENST00000261234.6_Missense_Mutation_p.Q324H	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	324						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		CCTTGCTTCAGAGTGATCTCA	0.428000													27	60					0	0	0.027356	0	0
TMEM135	65084	broad.mit.edu	37	11	87016978	87016978	+	Splice_Site	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:87016978A>G	ENST00000340353.7	+	8	835	c.632_splice	c.e8-1	p.I211_splice	TMEM135_ENST00000532959.1_Splice_Site_p.I104_splice|TMEM135_ENST00000535167.1_Splice_Site_p.I94_splice|TMEM135_ENST00000305494.5_Splice_Site_p.I233_splice	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	233						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAATTTCAGATGCAAACATG	0.284000													18	25					0	0	0.043863	0	0
CD248	57124	broad.mit.edu	37	11	66083847	66083847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083847C>T	ENST00000311330.3	-	1	668	c.652G>A	c.(652-654)Gag>Aag	p.E218K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	218	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACACCTCCCTCAGGCTGCTTC	0.667000													24	20					0	0	0.021523	0	0
SEL1L	6400	broad.mit.edu	37	14	81965994	81965994	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:81965994G>T	ENST00000336735.4	-	7	906	c.790C>A	c.(790-792)Ctg>Atg	p.L264M	SEL1L_ENST00000555824.1_Missense_Mutation_p.L264M	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	264	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GAGGCATACAGAAAGCCAAGA	0.338000													8	34					1.76689e-08	2.0346e-08	0.006214	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16046240	16046240	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:16046240C>T	ENST00000375799.3	+	6	704	c.477C>T	c.(475-477)taC>taT	p.Y159Y	PLEKHM2_ENST00000375793.2_Silent_p.Y159Y	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	159	Interaction with KIF5B.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGCCCCTTACCTAGACCTGG	0.607000													27	20					0	0	0.045705	0	0
LRP2	4036	broad.mit.edu	37	2	169989168	169989168	+	Silent	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:169989168A>G	ENST00000263816.3	-	77	13929	c.13644T>C	c.(13642-13644)gaT>gaC	p.D4548D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4548					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATTCTTATTATCCACATTTT	0.383000													25	52					0	0	0.024334	0	0
TEKT5	146279	broad.mit.edu	37	16	10788556	10788556	+	Missense_Mutation	SNP	C	C	T	rs16957557	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr16:10788556C>T	ENST00000283025.2	-	1	246	c.175G>A	c.(175-177)Gcc>Acc	p.A59T		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	59			A -> T (in dbSNP:rs16957557).		microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGGACGTTGGCTATCTTGTAG	0.607000													3	50					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179534354	179534354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:179534354G>A	ENST00000589042.1	-	158	35659	c.35435C>T	c.(35434-35436)gCt>gTt	p.A11812V	TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9935	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGAACAGCTTCACGAAC	0.333000													51	96					0	0	0.014410	0	0
COL16A1	1307	broad.mit.edu	37	1	32140630	32140630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:32140630G>C	ENST00000373672.3	-	44	3353	c.2837C>G	c.(2836-2838)cCa>cGa	p.P946R	COL16A1_ENST00000271069.6_Intron	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	946	Nonhelical region 4 (NC4).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGTTCAATTGGTAAGGATCC	0.542000													7	11					0	0	0.038147	0	0
TEP1	7011	broad.mit.edu	37	14	20837659	20837659	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:20837659G>A	ENST00000262715.5	-	53	7540	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	TEP1_ENST00000556935.1_Silent_p.T2392T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2500					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGTTACCTGTGGTCCATTCTC	0.488000													5	73					0	0	0.021553	0	0
OR7E24	26648	broad.mit.edu	37	19	9361989	9361989	+	Silent	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:9361989T>G	ENST00000456448.1	+	1	384	c.270T>G	c.(268-270)ggT>ggG	p.G90G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTGACATCGGTTTCACCTCCA	0.532000													23	27					0	0	0.014323	0	0
TTC40	54777	broad.mit.edu	37	10	134648830	134648830	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:134648830T>C	ENST00000368586.5	-	47	6822	c.6722A>G	c.(6721-6723)gAc>gGc	p.D2241G	TTC40_ENST00000263170.5_Missense_Mutation_p.D402G	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	402										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGGCCATGTCCTCACTGTA	0.657000													9	39					0	0	0.006214	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061386	126061386	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:126061386G>A	ENST00000318410.7	-	19	2590	c.2241C>T	c.(2239-2241)acC>acT	p.T747T	KIAA0196_ENST00000517845.1_Silent_p.T599T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	747					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCCATCCATGGTCGCTCCCA	0.403000													16	39					0	0	0.024245	0	0
CIT	11113	broad.mit.edu	37	12	120128169	120128169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:120128169G>T	ENST00000392521.2	-	47	6028	c.5973C>A	c.(5971-5973)caC>caA	p.H1991Q	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.H1949Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1949					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)		GCTCTCGCGGGTGGCTGGGGC	0.716000													6	15					0.0215528	0.0223365	0.021553	1	0
CACNB1	782	broad.mit.edu	37	17	37347836	37347836	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:37347836T>C	ENST00000394303.3	-	3	389	c.182A>G	c.(181-183)gAg>gGg	p.E61G	CACNB1_ENST00000394310.3_Missense_Mutation_p.E61G|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.E61G	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	61					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GGTGTAGGACTCCGCTGAGCC	0.597000													11	23					0	0	0.010729	0	0
DST	667	broad.mit.edu	37	6	56716396	56716396	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr6:56716396C>A	ENST00000370754.5	-	4	423	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.				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)			GACGCGTTCCCGGAACTCTAC	0.502000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					3.86212e-05	4.19316e-05	0.008291	1	0
ZNF737	100129842	broad.mit.edu	37	19	20728176	20728176	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:20728176A>T	ENST00000427401.4	-	4	927	c.833T>A	c.(832-834)aTt>aAt	p.I278N		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	278					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCAGTATGAATTATCTTATG	0.408000													14	18					0	0	0.028581	0	0
SLC33A1	9197	broad.mit.edu	37	3	155551699	155551699	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:155551699T>C	ENST00000392845.2	-	3	1475	c.1095A>G	c.(1093-1095)aaA>aaG	p.K365K	SLC33A1_ENST00000359479.3_Silent_p.K365K	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	365					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGCAGTGTATTTGCTGATAA	0.388000													16	38					0	0	0.043863	0	0
UNC45A	55898	broad.mit.edu	37	15	91479661	91479661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:91479661C>T	ENST00000394275.2	+	7	1187	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	UNC45A_ENST00000418476.2_Missense_Mutation_p.R133W|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	133					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	p.R133W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGAGGCCTTGCGGAACATCGG	0.582000													31	36					0	0	0.041601	0	0
CD248	57124	broad.mit.edu	37	11	66083463	66083463	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083463C>G	ENST00000311330.3	-	1	1052	c.1036G>C	c.(1036-1038)Gat>Cat	p.D346H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	346	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGATGCCATCAGCCTCCAGC	0.577000													29	33					0	0	0.041601	0	0
HSPA8	3312	broad.mit.edu	37	11	122930647	122930647	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:122930647C>T	ENST00000534624.1	-	5	930	c.654G>A	c.(652-654)gaG>gaA	p.E218E	HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000532636.1_Silent_p.E218E|HSPA8_ENST00000453788.2_Silent_p.E218E|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Silent_p.E218E|HSPA8_ENST00000526110.1_Silent_p.E199E|HSPA8_ENST00000526862.1_Intron	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	218	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGACTTGACCTCAAAGATTC	0.453000													5	32					0	0	0.014758	0	0
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Silent	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr20:34090746C>A	ENST00000397527.1	+	30	5269	c.4549C>A	c.(4549-4551)Cgg>Agg	p.R1517R	CEP250_ENST00000342580.4_Silent_p.R1461R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1517	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGAGAAGGATCGGGAGACTCA	0.512000													14	16					0.000151284	0.000161938	0.016723	1	0
DNAAF2	55172	broad.mit.edu	37	14	50100985	50100985	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:50100985C>T	ENST00000298292.8	-	1	963	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295T	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						GCCTGCTCGGCCGAGCGCAAC	0.657000													11	25					0	0	0.013537	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369367	19369367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:19369367C>T	ENST00000291481.7	-	4	845	c.782G>A	c.(781-783)cGc>cAc	p.R261H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	261	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGCGTCGTAGCGTTCCTCGGC	0.687000													20	24					0	0	0.008871	0	0
FBXO21	23014	broad.mit.edu	37	12	117615346	117615346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:117615346C>T	ENST00000427718.2	-	4	645	c.571G>A	c.(571-573)Gac>Aac	p.D191N	FBXO21_ENST00000330622.5_Missense_Mutation_p.D191N|FBXO21_ENST00000549689.1_5'UTR	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GACTCATAGTCATCTGGCTGC	0.378000													47	50					0	0	0.014410	0	0
ADCY1	107	broad.mit.edu	37	7	45697403	45697403	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr7:45697403T>A	ENST00000297323.7	+	6	1248	c.1226T>A	c.(1225-1227)cTg>cAg	p.L409Q	ADCY1_ENST00000432715.1_Missense_Mutation_p.L184Q	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	409					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTGGTGTCCTGGGCTTGCGC	0.602000													10	18					0	0	0.008291	0	0
DPYS	1807	broad.mit.edu	37	8	105459661	105459661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:105459661T>C	ENST00000351513.2	-	3	626	c.494A>G	c.(493-495)aAa>aGa	p.K165R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	165					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTACAGATCTTTATAGGCCAT	0.413000													22	70					0	0	0.018920	0	0
LHX5	64211	broad.mit.edu	37	12	113906037	113906037	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:113906037C>T	ENST00000261731.3	-	3	1143	c.570G>A	c.(568-570)aaG>aaA	p.K190K		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	190						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TCTCCAGCTGCTTGGCCTTGA	0.672000													15	24					0	0	0.038395	0	0
OTOP2	92736	broad.mit.edu	37	17	72929559	72929559	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:72929559C>T	ENST00000331427.4	+	7	1700	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	OTOP2_ENST00000580223.1_Silent_p.I536I	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	536						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCGGTCATCGTCAACATCT	0.592000													15	77					0	0	0.028581	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917176	42917176	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:42917176G>T	ENST00000316161.4	-	1	457	c.133C>A	c.(133-135)Cat>Aat	p.H45N	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.H45N	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	45					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GCCATGGCATGGCCAAGCCAG	0.577000													28	25					7.26314e-15	8.67014e-15	0.034045	1	0
ADAM32	203102	broad.mit.edu	37	8	39022614	39022614	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:39022614G>T	ENST00000379907.4	+	9	859	c.732G>T	c.(730-732)aaG>aaT	p.K244N	ADAM32_ENST00000519315.1_Missense_Mutation_p.K244N|ADAM32_ENST00000437682.2_Missense_Mutation_p.K251N	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	244	Peptidase M12B.				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)			ATGAAAATAAGATTTCTACAG	0.303000													22	32					7.87624e-14	9.35304e-14	0.016522	1	0
ZNF804A	91752	broad.mit.edu	37	2	185731223	185731223	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:185731223A>G	ENST00000302277.6	+	2	833	c.239A>G	c.(238-240)gAc>gGc	p.D80G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	80						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						AATTCATATGACCATGCTCAC	0.358000													15	74					0	0	0.033300	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100984	50100984	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:50100984G>T	ENST00000298292.8	-	1	964	c.884C>A	c.(883-885)gCc>gAc	p.A295D	DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295D	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	295					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CGCCTGCTCGGCCGAGCGCAA	0.652000													10	26					3.07112e-06	3.3991e-06	0.010729	1	0
ADPGK	83440	broad.mit.edu	37	15	73044806	73044806	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:73044806C>G	ENST00000311669.8	-	7	1460	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	ADPGK_ENST00000456471.2_Missense_Mutation_p.R182T	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	457	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TATTCCCTCTCTGTGCCATTC	0.493000													41	116					0	0	0.014410	0	0
OR2M3	127062	broad.mit.edu	37	1	248367254	248367254	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:248367254G>A	ENST00000456743.1	+	1	923	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TCCGCAACAAGGAGGTGACCA	0.458000													30	83					0	0	0.012213	0	0
PDCD11	22984	broad.mit.edu	37	10	105174033	105174033	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:105174033T>C	ENST00000369797.3	+	11	1411	c.1317T>C	c.(1315-1317)atT>atC	p.I439I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	439					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTAGGTCTATTATTGAAGCTC	0.438000													7	19					0	0	0.004482	0	0
NID1	4811	broad.mit.edu	37	1	236205526	236205526	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:236205526G>A	ENST00000264187.6	-	4	901	c.819C>T	c.(817-819)ggC>ggT	p.G273G	NID1_ENST00000366595.3_Silent_p.G273G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	273					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAGGCACCACGCCATTGGTGG	0.557000													59	152					0	0	0.014410	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428622	190428622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:190428622G>A	ENST00000261024.2	-	7	1516	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	364					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CATTTTCGACGTAGCCAAGTA	0.468000													18	111					0	0	0.033300	0	0
TMCC2	9911	broad.mit.edu	37	1	205210771	205210771	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:205210771G>T	ENST00000358024.3	+	2	735	c.346G>T	c.(346-348)Gac>Tac	p.D116Y	TMCC2_ENST00000545499.1_Missense_Mutation_p.D38Y|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	116						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGGTATGTCCGACCATGACTC	0.637000													6	38					0.00116845	0.00122768	0.021553	1	0
CHAF1A	10036	broad.mit.edu	37	19	4432045	4432045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:4432045C>T	ENST00000301280.5	+	12	2145	c.2044C>T	c.(2044-2046)Caa>Taa	p.Q682*	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	682	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCGTCCTGCAACCTGTGAA	0.602000								Chromatin Structure					25	56					0	0	0.030593	0	0
CSMD3	114788	broad.mit.edu	37	8	113585824	113585824	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000343508.3_Silent_p.R1276R|CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1316	CUB 7.					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						GTGTCAGTCCGCGCATAGATG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	88					0	0	0.013726	0	0
C10orf12	26148	broad.mit.edu	37	10	98744407	98744407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:98744407G>A	ENST00000286067.2	+	1	3367	c.3260G>A	c.(3259-3261)aGt>aAt	p.S1087N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1087										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAGTTCAGAGTAAACGCAAG	0.488000													20	24					0	0	0.043863	0	0
FAM214B	80256	broad.mit.edu	37	9	35107864	35107864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr9:35107864C>T	ENST00000378561.1	-	2	3463	c.408G>A	c.(406-408)tgG>tgA	p.W136*	FAM214B_ENST00000605244.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000603301.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000322813.5_Nonsense_Mutation_p.W136*|FAM214B_ENST00000488109.2_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378554.2_Nonsense_Mutation_p.W136*			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	136						nucleus											CCCCCGAAGTCCAAGATGAGG	0.617000													16	41					0	0	0.028581	0	0
CD248	57124	broad.mit.edu	37	11	66083246	66083246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083246C>T	ENST00000311330.3	-	1	1269	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	418	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CTGTGGCTCTCTGTCCTCTGG	0.652000													28	107					0	0	0.014410	0	0
PRSS48	345062	broad.mit.edu	37	4	152201007	152201007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr4:152201007C>T	ENST00000455694.2	+	2	114	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	38	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TGCTGCAGGGCGCTGGCCTTG	0.527000													28	30					0	0	0.027356	0	0
CD248	57124	broad.mit.edu	37	11	66083379	66083379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083379C>T	ENST00000311330.3	-	1	1136	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	374						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TCTTCCTCATCCTCCCCGTCA	0.622000													41	55					0	0	0.036044	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713447	142713447	+	RNA	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:142713447T>C	ENST00000369381.2	-	0	1158																											AGAACTCATTTTTACTTGTAC	0.323000													7	45					0	0	0.004482	0	0
CYC1	1537	broad.mit.edu	37	8	145151332	145151332	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:145151332T>C	ENST00000318911.4	+	4	619	c.546T>C	c.(544-546)agT>agC	p.S182S		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	182	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-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;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCAACAGTGAGGCTGCTC	0.587000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	56					0	0	0.021523	0	0
FGA	2243	broad.mit.edu	37	4	155510666	155510666	+	Missense_Mutation	SNP	G	G	A	rs121909606		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr4:155510666G>A	ENST00000302053.3	-	2	181	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	FGA_ENST00000403106.3_Missense_Mutation_p.R35C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	35		Cleavage; by thrombin; to release fibrinopeptide A.	R -> C.|R -> H.		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R35C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTGGGCCACGCACGCCTCCT	0.493000													42	19					0	0	0.045515	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182672	140182672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:140182672G>T	ENST00000522353.2	+	1	1890	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E630D|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGGAGAGATCAGCACGA	0.657000													22	56					2.89027e-11	3.37939e-11	0.014323	1	0
ANKFY1	51479	broad.mit.edu	37	17	4098291	4098291	+	Missense_Mutation	SNP	C	C	T	rs147745463	by1000genomes	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:4098291C>T	ENST00000341657.4	-	10	1389	c.1354G>A	c.(1354-1356)Gca>Aca	p.A452T	ANKFY1_ENST00000433651.1_Missense_Mutation_p.A452T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A494T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A452T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	452						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGTCAGGTGCGTCTGTGTGG	0.572000													14	31					0	0	0.038395	0	0
KLHL10	317719	broad.mit.edu	37	17	39994252	39994252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:39994252C>T	ENST00000293303.4	+	1	221	c.68C>T	c.(67-69)gCg>gTg	p.A23V	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	23						cytoplasm		p.A23V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AAGATGAGTGCGATGGCCTGT	0.562000													38	73					0	0	0.023175	0	0
ICAM3	3385	broad.mit.edu	37	19	10446518	10446518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:10446518C>T	ENST00000589261.1	-	3	779	c.247G>A	c.(247-249)Gag>Aag	p.E83K	ICAM3_ENST00000160262.5_Missense_Mutation_p.E160K			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	160	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CGGCTCAGCTCCTCCTCCCAG	0.677000													3	10					0	0	0.014758	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814465	45814465	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:45814465C>G	ENST00000261867.4	-	2	402	c.88G>C	c.(88-90)Gac>Cac	p.D30H	HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	30	Asp-rich (acidic).			D -> E (in Ref. 1; AAB82561).	regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TCCGAGAAGTCAAAGGCGCTG	0.572000													23	33					0	0	0.021523	0	0
GPR115	221393	broad.mit.edu	37	6	47682615	47682615	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr6:47682615G>C	ENST00000283303.2	+	6	1892	c.1634G>C	c.(1633-1635)aGa>aCa	p.R545T	GPR115_ENST00000327753.3_Missense_Mutation_p.R545T|GPR115_ENST00000371220.1_Missense_Mutation_p.R602T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	545					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCTACATGAGACCTGAGGCC	0.483000													40	166					0	0	0.023175	0	0
CDH2	1000	broad.mit.edu	37	18	25589801	25589801	+	Silent	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr18:25589801C>A	ENST00000269141.3	-	5	1005	c.582G>T	c.(580-582)cgG>cgT	p.R194R	CDH2_ENST00000399380.3_Silent_p.R163R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	194	Cadherin 1.				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						TTACACTGTACCGCAGTGAAA	0.483000													28	44					1.77063e-15	2.136e-15	0.027356	1	0
IL20RB	53833	broad.mit.edu	37	3	136708366	136708366	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:136708366G>C	ENST00000329582.4	+	4	739	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	IL20RB_ENST00000309741.5_Missense_Mutation_p.E117Q	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	164	Fibronectin type-III 2.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCCCAGTTTGAGTTCCTTGT	0.567000													12	39					0	0	0.013537	0	0
MICU1	10367	broad.mit.edu	37	10	74234891	74234891	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:74234891C>T	ENST00000398761.4	-	10	1038	c.906G>A	c.(904-906)caG>caA	p.Q302Q	MICU1_ENST00000401998.3_Silent_p.Q300Q|MICU1_ENST00000361114.5_Silent_p.Q300Q|MICU1_ENST00000398763.4_Silent_p.Q102Q|MICU1_ENST00000418483.2_Silent_p.Q102Q			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	300					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										GCAGTTTACGCTGAAATTCGA	0.468000													4	10					0	0	0.009096	0	0
PCNT	5116	broad.mit.edu	37	21	47841931	47841931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr21:47841931C>G	ENST00000359568.5	+	32	7179	c.7072C>G	c.(7072-7074)Cct>Gct	p.P2358A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2358					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCAGGAGGCCCTGAGGCTCA	0.612000													22	49					0	0	0.018920	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													4	24					0	0	0.009096	0	0
KLHL14	57565	broad.mit.edu	37	18	30350122	30350122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr18:30350122C>T	ENST00000359358.4	-	2	871	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.A145T	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	145	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTCACGTTGGCCGTGTAGAGG	0.637000													38	130					0	0	0.025465	0	0
PARP11	57097	broad.mit.edu	37	12	3921420	3921420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:3921420G>A	ENST00000228820.4	-	8	1030	c.886C>T	c.(886-888)Cga>Tga	p.R296*	PARP11_ENST00000427057.2_Nonsense_Mutation_p.R215*|PARP11_ENST00000476985.1_Intron|PARP11_ENST00000447133.3_Nonsense_Mutation_p.R215*|PARP11_ENST00000397096.2_Intron	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	289	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.R289*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GAAGGAGGTCGCATGTATTTG	0.413000													39	82					0	0	0.027894	0	0
KIAA1598	57698	broad.mit.edu	37	10	118713583	118713583	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:118713583C>A	ENST00000355371.4	-	5	903	c.406G>T	c.(406-408)Gtc>Ttc	p.V136F	KIAA1598_ENST00000260777.10_Missense_Mutation_p.V136F|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.V136F|KIAA1598_ENST00000392901.4_Missense_Mutation_p.V76F	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	136					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TGTACTGAGACACAAGTCTCG	0.418000													19	26					6.44725e-10	7.49986e-10	0.014323	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461761	5461761	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:5461761A>G	ENST00000296564.7	+	13	2536	c.2314A>G	c.(2314-2316)Ata>Gta	p.I772V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	772										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CACATCATTAATAGGTTCTCA	0.388000													9	22					0	0	0.010729	0	0
DDX49	54555	broad.mit.edu	37	19	19035702	19035702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:19035702T>A	ENST00000438170.2	+	10	1061	c.649T>A	c.(649-651)Tcc>Acc	p.S217T	DDX49_ENST00000247003.4_Missense_Mutation_p.I314N|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_3'UTR			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	0							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GGCCTGGACATCCCTACGGTA	0.637000													23	27					0	0	0.018920	0	0
KIF5C	3800	broad.mit.edu	37	2	149847689	149847689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:149847689G>T	ENST00000435030.1	+	16	2250	c.1882G>T	c.(1882-1884)Gcc>Tcc	p.A628S	KIF5C_ENST00000397413.1_Missense_Mutation_p.A396S|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.A533S			O60282	KIF5C_HUMAN	kinesin family member 5C	628					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGCTGGCAGCCTGCCAGCT	0.587000													6	16					3.59834e-05	3.92546e-05	0.021553	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72057278	72057278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:72057278C>T	ENST00000378743.3	-	1	471	c.113G>A	c.(112-114)aGt>aAt	p.S38N	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S38N|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S38N	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	38	Ser-rich.				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						GCTGCTCCGACTCCGTATCTG	0.657000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	106					0	0	0.014410	0	0
TTBK2	146057	broad.mit.edu	37	15	43102902	43102902	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:43102902G>A	ENST00000267890.6	-	9	840	c.732C>T	c.(730-732)caC>caT	p.H244H	TTBK2_ENST00000567274.1_Silent_p.H209H|TTBK2_ENST00000567840.1_Silent_p.H244H	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	244	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		ACATGAGCCTGTGGTCATATC	0.413000													31	52					0	0	0.012213	0	0
TM9SF3	56889	broad.mit.edu	37	10	98292908	98292908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:98292908G>C	ENST00000371142.4	-	10	1441	c.1225C>G	c.(1225-1227)Cta>Gta	p.L409V		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	409						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ACAAGATTTAGAGGAAGAATA	0.363000													17	31					0	0	0.033300	0	0
PDZD8	118987	broad.mit.edu	37	10	119044328	119044328	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:119044328A>G	ENST00000334464.5	-	5	2155	c.1916T>C	c.(1915-1917)gTg>gCg	p.V639A	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	639					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TATGGCATCCACATTTTTTGC	0.453000													6	55					0	0	0.029380	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392390	60392390	+	Missense_Mutation	SNP	G	G	A	rs146801076	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:60392390G>A	ENST00000371204.3	-	1	72	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	10					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					CCAGAGGGCAGCCGCCAGAGA	0.657000													4	9					0	0	0.009096	0	0
SIX4	51804	broad.mit.edu	37	14	61180764	61180764	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:61180764C>T	ENST00000216513.4	-	3	1766	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	569						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CCAAGCCTTCCTGTTTCACAG	0.468000													13	19					0	0	0.024245	0	0
CD248	57124	broad.mit.edu	37	11	66083748	66083748	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083748C>A	ENST00000311330.3	-	1	767	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	251						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	ACGTGACCATCCACCTCCTCC	0.687000													27	33					0.000184323	0.000196382	0.034045	1	0
THSD7B	80731	broad.mit.edu	37	2	137814502	137814502	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:137814502C>A	ENST00000409968.1	+	3	830	c.652C>A	c.(652-654)Cca>Aca	p.P218T	THSD7B_ENST00000543459.1_Missense_Mutation_p.P77T|THSD7B_ENST00000413152.2_Missense_Mutation_p.P187T|THSD7B_ENST00000272643.3_Missense_Mutation_p.P218T					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTTGCAATGTCCAAATCTGAC	0.478000													58	136					1.22119e-34	1.52984e-34	0.014410	1	0
CD248	57124	broad.mit.edu	37	11	66083586	66083586	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083586C>A	ENST00000311330.3	-	1	929	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	305						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCGGATCATCCTCCGCTGGC	0.617000													12	25					1.05317e-09	1.2189e-09	0.020292	1	0
SULF1	23213	broad.mit.edu	37	8	70517085	70517085	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:70517085C>G	ENST00000260128.4	+	13	2012	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*	SULF1_ENST00000402687.4_Nonsense_Mutation_p.S432*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.S432*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.S432*|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	432					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATCCAACAGTCAAATCACTTG	0.463000													29	49					0	0	0.030593	0	0
PCNXL4	64430	broad.mit.edu	37	14	60574583	60574583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:60574583C>T	ENST00000406854.1	+	2	781	c.227C>T	c.(226-228)tCa>tTa	p.S76L	PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S76L|PCNXL4_ENST00000391611.2_Missense_Mutation_p.S76L					pecanex-like 4 (Drosophila)																		GCAGCACTTTCAGGTGGATTA	0.368000													10	20					0	0	0.006214	0	0
CES2	8824	broad.mit.edu	37	16	66975087	66975087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr16:66975087C>T	ENST00000317091.4	+	6	2053	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	CES2_ENST00000417689.1_Missense_Mutation_p.R357W	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	293					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGGCTGCCTGCGGGGCAAGAG	0.572000													3	43					0	0	0.009096	0	0
GRIN2D	2906	broad.mit.edu	37	19	48946565	48946565	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:48946565G>A	ENST00000263269.3	+	13	3470	c.3382G>A	c.(3382-3384)Ggc>Agc	p.G1128S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1128						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCGCTGGGCGGCCTGGAGCC	0.756000													6	8					0	0	0.029380	0	0
C12orf4	57102	broad.mit.edu	37	12	4627336	4627336	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:4627336A>T	ENST00000261250.3	-	8	1008	c.921T>A	c.(919-921)agT>agA	p.S307R	C12orf4_ENST00000545746.1_Missense_Mutation_p.S307R	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	307										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GTTTCACACCACTTCGATGAT	0.413000													55	67					0	0	0.014410	0	0
CD248	57124	broad.mit.edu	37	11	66083845	66083845	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083845C>T	ENST00000311330.3	-	1	670	c.654G>A	c.(652-654)gaG>gaA	p.E218E	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	218	Sushi.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCACACCTCCCTCAGGCTGCT	0.662000													25	20					0	0	0.024334	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175998	140175998	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:140175998C>A	ENST00000526136.1	+	1	1449	c.1449C>A	c.(1447-1449)gaC>gaA	p.D483E	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D483E|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D483E	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGCGGACGCGCAGGAGA	0.657000													38	82					7.05121e-23	8.69014e-23	0.039052	1	0
ESCO2	157570	broad.mit.edu	37	8	27657230	27657230	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:27657230T>G	ENST00000305188.8	+	10	1908	c.1670T>G	c.(1669-1671)cTc>cGc	p.L557R	ESCO2_ENST00000397418.2_Missense_Mutation_p.L205R	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	557					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTGATACCCTCAGGTAAGAA	0.428000									SC Phocomelia syndrome				26	53					0	0	0.037714	0	0
SYNJ1	8867	broad.mit.edu	37	21	34099218	34099218	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr21:34099218C>T	ENST00000382499.2	-	2	105	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SYNJ1_ENST00000357345.3_5'UTR|SYNJ1_ENST00000382491.3_5'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E36K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	0							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCCTTTCTTCGGAGGCAGCC	0.488000													24	46					0	0	0.037714	0	0
KIAA1143	57456	broad.mit.edu	37	3	44795015	44795015	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:44795015T>C	ENST00000296121.4	-	3	342	c.283A>G	c.(283-285)Atc>Gtc	p.I95V	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	95										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		CGATATATGATTCTTCCATCG	0.343000													3	41					0	0	0.004672	0	0
MYH9	4627	broad.mit.edu	37	22	36701124	36701124	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr22:36701124G>T	ENST00000216181.5	-	18	2414	c.2184C>A	c.(2182-2184)tcC>tcA	p.S728S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	728	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTTGGGAATGGAGTTTGGAG	0.537000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				20	45					2.37509e-13	2.80581e-13	0.010504	1	0
SLC25A45	283130	broad.mit.edu	37	11	65144112	65144112	+	Silent	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:65144112T>A	ENST00000417511.2	-	10	1641	c.507A>T	c.(505-507)gcA>gcT	p.A169A	SLC25A45_ENST00000398802.1_Silent_p.A211A|SLC25A45_ENST00000534028.1_Silent_p.A187A|SLC25A45_ENST00000526432.1_Silent_p.A149A|SLC25A45_ENST00000294187.6_Silent_p.A169A|SLC25A45_ENST00000360662.3_Silent_p.A187A|SLC25A45_ENST00000527174.1_Silent_p.A211A|SLC25A45_ENST00000377152.2_Silent_p.A107A	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	211					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						AAGCAATGCCTGCAAAGCCCC	0.612000													30	19					0	0	0.041601	0	0
ACN9	57001	broad.mit.edu	37	7	96747113	96747113	+	Silent	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr7:96747113C>T	ENST00000432641.2	+	1	1212	c.78C>T	c.(76-78)gaC>gaT	p.D26D	ACN9_ENST00000360382.4_Silent_p.D26D	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	26					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TGCCCCCGGACCTCAAATCCC	0.597000													16	58					0	0	0.028581	0	0
GRB7	2886	broad.mit.edu	37	17	37899470	37899470	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:37899470G>T	ENST00000309156.4	+	5	758	c.501G>T	c.(499-501)gtG>gtT	p.V167V	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.V190V|GRB7_ENST00000394211.3_Silent_p.V167V|GRB7_ENST00000394204.1_Silent_p.V167V|GRB7_ENST00000394209.2_Silent_p.V167V|GRB7_ENST00000309185.3_Silent_p.V167V	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	167	Ras-associating.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGTGGAAGTGCAGGCTGCCT	0.582000													8	82					2.17888e-05	2.38838e-05	0.006214	1	0
OR2T1	26696	broad.mit.edu	37	1	248569576	248569576	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:248569576T>A	ENST00000366474.1	+	1	281	c.281T>A	c.(280-282)gTt>gAt	p.V94D		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	94					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)			GCCAATGGGGTTATGATCTTC	0.428000													20	136					0	0	0.010504	0	0
CD248	57124	broad.mit.edu	37	11	66083548	66083548	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66083548C>G	ENST00000311330.3	-	1	967	c.951G>C	c.(949-951)caG>caC	p.Q317H	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	317	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CACCGGCAATCTGGCACTCAT	0.597000													13	29					0	0	0.028581	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													4	27					0	0	0.009096	0	0
CDH18	1016	broad.mit.edu	37	5	19571938	19571938	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:19571938G>T	ENST00000507958.1	-	10	1993	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	CDH18_ENST00000511273.1_Missense_Mutation_p.L335M|CDH18_ENST00000502796.1_Missense_Mutation_p.L335M|CDH18_ENST00000506372.1_Missense_Mutation_p.L335M|CDH18_ENST00000382275.1_Missense_Mutation_p.L335M|CDH18_ENST00000274170.4_Missense_Mutation_p.L335M			Q13634	CAD18_HUMAN	cadherin 18, type 2	335	Cadherin 3.				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)					TCATAGTTCAGTGGCTGTGGG	0.299000													14	20					1.49906e-05	1.65114e-05	0.020292	1	0
HECTD1	25831	broad.mit.edu	37	14	31626071	31626071	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:31626071T>G	ENST00000399332.1	-	12	2395	c.1907A>C	c.(1906-1908)aAt>aCt	p.N636T	HECTD1_ENST00000553700.1_Missense_Mutation_p.N636T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	636					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCCTCTTCATTCTCATCATC	0.343000													25	36					0	0	0.024334	0	0
ACOT11	26027	broad.mit.edu	37	1	55064970	55064970	+	Splice_Site	SNP	C	C	T	rs148238018	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:55064970C>T	ENST00000371316.3	+	8	848	c.764_splice	c.e8-1	p.R256_splice	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Splice_Site_p.R256_splice	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	256	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCTCCTCAGCCGGCTCTGCCG	0.522000													18	27					0	0	0.038395	0	0
COL6A6	131873	broad.mit.edu	37	3	130283910	130283910	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:130283910T>C	ENST00000358511.6	+	3	765	c.734T>C	c.(733-735)tTt>tCt	p.F245S	COL6A6_ENST00000453409.2_Missense_Mutation_p.F245S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	245	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGGAGAACTTTGACTATCTT	0.418000													43	83					0	0	0.030466	0	0
KLHL24	54800	broad.mit.edu	37	3	183369021	183369021	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr3:183369021A>G	ENST00000454652.1	+	4	1263	c.877A>G	c.(877-879)Ata>Gta	p.I293V	KLHL24_ENST00000476808.1_Missense_Mutation_p.I293V|KLHL24_ENST00000242810.6_Missense_Mutation_p.I293V			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	293						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ACGGTACCACATACTTGGGAA	0.388000													13	48					0	0	0.020292	0	0
KSR2	283455	broad.mit.edu	37	12	117968797	117968797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:117968797G>A	ENST00000425217.1	-	12	1718	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	KSR2_ENST00000302438.5_Missense_Mutation_p.T281M|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.T584M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	584					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGTCGGCGTCTCCGGCAC	0.562000													51	94					0	0	0.014410	0	0
SNW1	22938	broad.mit.edu	37	14	78184661	78184661	+	Missense_Mutation	SNP	T	T	G	rs17825620	by1000genomes	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:78184661T>G	ENST00000555761.1	-	13	1489	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	SNW1_ENST00000554775.1_Intron|SNW1_ENST00000261531.7_Intron|SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TATGAACTACTTTGCTTTCAC	0.438000													4	107					0	0	0.009096	0	0
NDUFA6	4700	broad.mit.edu	37	22	42482286	42482286	+	Silent	SNP	T	T	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr22:42482286T>C	ENST00000498737.2	-	3	498	c.366A>G	c.(364-366)gtA>gtG	p.V122V	NDUFA6_ENST00000602404.1_Silent_p.V96V|SMDT1_ENST00000547929.1_Intron|NDUFA6_ENST00000470753.1_Silent_p.V39V	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	122					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	GCTGCTTCCATACTTTAATTG	0.453000													28	59					0	0	0.027356	0	0
COPZ1	22818	broad.mit.edu	37	12	54744278	54744278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:54744278G>A	ENST00000262061.2	+	9	542	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	COPZ1_ENST00000416254.2_Missense_Mutation_p.E118K|COPZ1_ENST00000552218.1_Missense_Mutation_p.E190K|COPZ1_ENST00000549043.1_Missense_Mutation_p.E177K|COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000552362.1_Missense_Mutation_p.E152K|COPZ1_ENST00000549116.1_Missense_Mutation_p.E111K|COPZ1_ENST00000548753.1_Missense_Mutation_p.E81K|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000455864.2_Missense_Mutation_p.E146K	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	169					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						GTCAGCCAAAGAACAGATCAA	0.493000													10	148					0	0	0.006214	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694538	99694538	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr9:99694538G>C	ENST00000354649.3	+	2	1266	c.551G>C	c.(550-552)gGa>gCa	p.G184A	NUTM2G_ENST00000372322.3_Missense_Mutation_p.G184A|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GGGGCTCATGGAGAGGGCAGC	0.647000													19	110					0	0	0.016522	0	0
OTOGL	283310	broad.mit.edu	37	12	80752051	80752051	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr12:80752051G>T	ENST00000458043.2	+	49	6022	c.6016G>T	c.(6016-6018)Gtt>Ttt	p.V2006F	OTOGL_ENST00000547103.1_Missense_Mutation_p.V1994F|OTOGL_ENST00000546620.1_Missense_Mutation_p.V25F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACCAAACCTGTTCCACTATG	0.343000													6	15					0.00116845	0.00122768	0.021553	1	0
GLRA1	2741	broad.mit.edu	37	5	151202317	151202317	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:151202317A>C	ENST00000274576.4	-	9	1559	c.1267T>G	c.(1267-1269)Ttc>Gtc	p.F423V	GLRA1_ENST00000545569.1_Missense_Mutation_p.F340V|GLRA1_ENST00000455880.2_Missense_Mutation_p.F431V	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	431					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCATGGGGAAGCCAATGCGG	0.507000													26	42					0	0	0.021523	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106781395	106781395	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr7:106781395A>T	ENST00000265717.4	+	5	843	c.584A>T	c.(583-585)gAt>gTt	p.D195V	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	195					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TATGTAATTGATAGGTAAGTT	0.348000													15	28					0	0	0.020292	0	0
CUL3	8452	broad.mit.edu	37	2	225368470	225368470	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:225368470C>G	ENST00000264414.4	-	9	1614	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	CUL3_ENST00000409777.1_Missense_Mutation_p.D402H|CUL3_ENST00000409096.1_Missense_Mutation_p.D402H|CUL3_ENST00000344951.4_Missense_Mutation_p.D360H	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	426					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAATACATCTTTTTCTTGC	0.294000													7	4					0	0	0.029380	0	0
PARP12	64761	broad.mit.edu	37	7	139727186	139727186	+	Silent	SNP	G	G	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr7:139727186G>T	ENST00000263549.3	-	10	2391	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	506	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACTCTTCCGAGGAAGAACTAA	0.448000													19	55					2.94398e-08	3.33944e-08	0.043863	1	0
AJUBA	84962	broad.mit.edu	37	14	23450641	23450641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr14:23450641C>A	ENST00000262713.2	-	1	1210	c.835G>T	c.(835-837)Gag>Tag	p.E279*	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.E279*	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	279	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										GCTGTTAGCTCGTCCTGGTAC	0.711000													7	15					8.12818e-05	8.74163e-05	0.029380	1	0
CSMD3	114788	broad.mit.edu	37	8	113988125	113988125	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr8:113988125C>G	ENST00000297405.5	-	7	1527	c.1283G>C	c.(1282-1284)aGa>aCa	p.R428T	CSMD3_ENST00000343508.3_Missense_Mutation_p.R388T|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R428T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	428						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						ATGTCTTGGTCTTCTCCTGGT	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	92					0	0	0.015359	0	0
TPCN2	219931	broad.mit.edu	37	11	68835058	68835058	+	Missense_Mutation	SNP	G	G	A	rs142288453	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:68835058G>A	ENST00000294309.3	+	8	915	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.A272T	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	272					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGACCACGGCCAACAACCC	0.637000													12	366					0	0	0.020292	0	0
ELMO3	79767	broad.mit.edu	37	16	67234109	67234109	+	Silent	SNP	G	G	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr16:67234109G>A	ENST00000393997.2	+	5	474	c.417G>A	c.(415-417)gaG>gaA	p.E139E	ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Silent_p.E122E	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	86					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTGAGGCTGAGCAGCTCTTGG	0.642000													7	7					0	0	0.029380	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324299	128324299	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:128324299C>T	ENST00000262462.4	+	3	1702	c.692C>T	c.(691-693)cCa>cTa	p.P231L	SLC27A6_ENST00000506176.1_Missense_Mutation_p.P231L|SLC27A6_ENST00000395266.1_Missense_Mutation_p.P231L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	231				P -> S (in Ref. 3; CAG33410).	long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CCAGGTCTACCAAAAGCAGCT	0.368000													30	32					0	0	0.041601	0	0
CD248	57124	broad.mit.edu	37	11	66084045	66084045	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:66084045C>T	ENST00000311330.3	-	1	470	c.454G>A	c.(454-456)Gac>Aac	p.D152N	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	152	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGGTAGCCGTCGACAGCCAGC	0.716000													17	15					0	0	0.038395	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785730	28785730	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:28785730delA	ENST00000373839.3	+	3	412	c.151delA	c.(151-153)aafs	p.K53fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	53							actin binding|protein phosphatase inhibitor activity	p.S64fs*12(3)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATGGAGGAAAAAAAAAAG	0.393													7	54	---	---	---	---					
ATP1A4	480	broad.mit.edu	37	1	160156092	160156095	+	Frame_Shift_Del	DEL	CCTA	CCTA	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:160156092_160156095delCCTA	ENST00000368081.4	+	21	3467_3470	c.2996_2999delCCTA	c.(2995-3000)ccfs	p.PY999fs	ATP1A4_ENST00000470705.1_Frame_Shift_Del_p.PY135fs	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	999				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCCATTCCCTACAGTATTCTC	0.549													16	615	---	---	---	---					
GPR161	23432	broad.mit.edu	37	1	168074064	168074068	+	Frame_Shift_Del	DEL	AGCTG	AGCTG	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr1:168074064_168074068delAGCTG	ENST00000367838.1	-	4	334_338	c.21_25delCAGCT	c.(19-27)ctgcfs	p.LSC7fs	GPR161_ENST00000546300.1_Intron|GPR161_ENST00000271357.5_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000361697.2_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000537209.1_Frame_Shift_Del_p.LSC27fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.LSC7fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	7					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TCCTTCCTGCAGCTGAGGGAGGAGT	0.566													22	892	---	---	---	---					
EHBP1	23301	broad.mit.edu	37	2	63086416	63086417	+	Frame_Shift_Ins	INS	-	-	GACTCAGA			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr2:63086416_63086417insGACTCAGA	ENST00000263991.5	+	9	1334_1335	c.852_853insGACTCAGA	c.(850-855)ccactcfs	p.L285fs	EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.L250fs	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	285						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGGAGATCCTGACTCAGAAGG	0.361													11	54	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144361302	144361303	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr4:144361302_144361303insT	ENST00000262995.4	+	6	1779_1780	c.1352_1353insT	c.(1351-1353)accfs	p.T451fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.T451fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.T348fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	451	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTCCCAATGAATCCCAATTCAC	0.351													35	31	---	---	---	---					
APC	324	broad.mit.edu	37	5	112173680	112173680	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr5:112173680delG	ENST00000457016.1	+	16	2769	c.2389delG	c.(2389-2391)gtfs	p.G797fs	APC_ENST00000257430.4_Frame_Shift_Del_p.G797fs|APC_ENST00000508376.2_Frame_Shift_Del_p.G797fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	797	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTCTCTATGGTGATTATGT	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	59	---	---	---	---					
CTBP2	1488	broad.mit.edu	37	10	126715243	126715244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr10:126715243_126715244insC	ENST00000309035.6	-	1	1215_1216	c.1085_1086insG	c.(1084-1086)gccfs	p.A362fs	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ggggcagcgggcccccccggTC	0.668													5	9	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1016769	1016771	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr11:1016769_1016771delGGT	ENST00000421673.2	-	31	6080_6082	c.6030_6032delACC	c.(6028-6033)cct>cc	p.PP2010del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2010	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGAGAAAGGTGGAACGTGAG	0.537													9	1388	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)del	p.S52del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557													9	397	---	---	---	---					
TGM7	116179	broad.mit.edu	37	15	43579612	43579612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:43579612delC	ENST00000452443.2	-	6	735	c.731delG	c.(730-732)gcfs	p.G244fs		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	244					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTAGTCCTCGCCCCAGTTCCC	0.607													17	34	---	---	---	---					
HAPLN3	145864	broad.mit.edu	37	15	89424690	89424691	+	Frame_Shift_Del	DEL	GC	GC	-	rs78894646	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr15:89424690_89424691delGC	ENST00000359595.3	-	3	604_605	c.390_391delGC	c.(388-393)tctgfs	p.SL130fs	HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.SL192fs	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	130	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGGATCTCCAGCGAGACGTCAT	0.629													32	142	---	---	---	---					
SYNRG	11276	broad.mit.edu	37	17	35896099	35896100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr17:35896099_35896100insA	ENST00000339208.6	-	19	3787_3788	c.3647_3648insT	c.(3646-3648)atcfs	p.I1216fs	SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.I1216fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.I1138fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.I1010fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.I1137fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.I1093fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.I1138fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1216					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGCGAGTGACATGAAGCCGAT	0.460													9	63	---	---	---	---					
APOC1P1	342	broad.mit.edu	37	19	45431267	45431268	+	RNA	INS	-	-	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:45431267_45431268insA	ENST00000574565.1	+	0	402					NR_028412.1																						TGAACAGATTGAAAAAAAAAAC	0.525													2	4	---	---	---	---					
FTL	2512	broad.mit.edu	37	19	49469858	49469861	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:49469858_49469861delACTC	ENST00000331825.6	+	4	601_604	c.394_397delACTC	c.(394-399)acfs	p.TH132fs		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	132	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CTTCCTGGAGACTCACTTCCTAGA	0.525													60	157	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)cccfs	p.P599fs	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													11	6	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110490693	110490698	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrX:110490693_110490698delTCCTCC	ENST00000324068.1	-	12	1808_1813	c.1641_1646delGGAGGA	c.(1639-1647)aaa>aa	p.KEE547del	CAPN6_ENST00000541758.1_In_Frame_Del_p.KEE292del	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	547	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGAACGGACTTCCTCCTTTCCACATT	0.393													21	26	---	---	---	---					
TBL1Y	90665	broad.mit.edu	37	Y	6948772	6948773	+	Splice_Site	INS	-	-	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	7dbbc6b9-3e72-4914-b072-4d1a5af90c1f	g.chrY:6948772_6948773insC	ENST00000383032.1	+	14	1602_1603		c.e14-1		TBL1Y_ENST00000346432.3_Splice_Site|TBL1Y_ENST00000355162.2_Splice_Site	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked						transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CCCTGCTGCAGCCCCCGCCCTT	0.510													34	15	---	---	---	---					
GPR161	23432	broad.mit.edu	37	1	168074064	168074068	+	Frame_Shift_Del	DEL	AGCTG	AGCTG	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr1:168074064_168074068delAGCTG	ENST00000367838.1	-	4	334_338	c.21_25delCAGCT	c.(19-27)ctgcfs	p.LSC7fs	GPR161_ENST00000361697.2_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000537209.1_Frame_Shift_Del_p.LSC27fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000271357.5_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000546300.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	7					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TCCTTCCTGCAGCTGAGGGAGGAGT	0.566													22	892	---	---	---	---					
EHBP1	23301	broad.mit.edu	37	2	63086416	63086417	+	Frame_Shift_Ins	INS	-	-	GACTCAGA			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr2:63086416_63086417insGACTCAGA	ENST00000263991.5	+	9	1334_1335	c.852_853insGACTCAGA	c.(850-855)ccactcfs	p.L285fs	EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.L250fs	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	285						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGGAGATCCTGACTCAGAAGG	0.361													11	54	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144361302	144361303	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr4:144361302_144361303insT	ENST00000262995.4	+	6	1779_1780	c.1352_1353insT	c.(1351-1353)accfs	p.T451fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.T451fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.T348fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	451	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTCCCAATGAATCCCAATTCAC	0.351													35	31	---	---	---	---					
APC	324	broad.mit.edu	37	5	112173680	112173680	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr5:112173680delG	ENST00000457016.1	+	16	2769	c.2389delG	c.(2389-2391)gtfs	p.G797fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.G797fs|APC_ENST00000257430.4_Frame_Shift_Del_p.G797fs			P25054	APC_HUMAN	adenomatous polyposis coli	797	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTCTCTATGGTGATTATGT	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			12	59	---	---	---	---					
CTBP2	1488	broad.mit.edu	37	10	126715243	126715244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr10:126715243_126715244insC	ENST00000309035.6	-	1	1215_1216	c.1085_1086insG	c.(1084-1086)gccfs	p.A362fs	CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ggggcagcgggcccccccggTC	0.668													5	9	---	---	---	---					
MUC6	4588	broad.mit.edu	37	11	1016769	1016771	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr11:1016769_1016771delGGT	ENST00000421673.2	-	31	6080_6082	c.6030_6032delACC	c.(6028-6033)cct>cc	p.PP2010del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2010	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGGAGAAAGGTGGAACGTGAG	0.537													9	1388	---	---	---	---					
RP13-395E19.3	0	broad.mit.edu	37	15	32695572	32695574	+	RNA	DEL	AAT	AAT	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:32695572_32695574delAAT	ENST00000562108.1	-	0	767																											CCCATTGGTCAATGAGAAAGATG	0.581													3	5	---	---	---	---					
TGM7	116179	broad.mit.edu	37	15	43579612	43579612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:43579612delC	ENST00000452443.2	-	6	735	c.731delG	c.(730-732)gcfs	p.G244fs		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	244					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTAGTCCTCGCCCCAGTTCCC	0.607													17	34	---	---	---	---					
HAPLN3	145864	broad.mit.edu	37	15	89424690	89424691	+	Frame_Shift_Del	DEL	GC	GC	-	rs78894646	byFrequency	TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr15:89424690_89424691delGC	ENST00000359595.3	-	3	604_605	c.390_391delGC	c.(388-393)tctgfs	p.SL130fs	HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.SL192fs	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	130	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGGATCTCCAGCGAGACGTCAT	0.629													32	142	---	---	---	---					
SYNRG	11276	broad.mit.edu	37	17	35896099	35896100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr17:35896099_35896100insA	ENST00000339208.6	-	19	3787_3788	c.3647_3648insT	c.(3646-3648)atcfs	p.I1216fs	SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.I1010fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.I1137fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.I1093fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.I1138fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.I1138fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.I1216fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1216					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGCGAGTGACATGAAGCCGAT	0.460													9	63	---	---	---	---					
FTL	2512	broad.mit.edu	37	19	49469858	49469861	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chr19:49469858_49469861delACTC	ENST00000331825.6	+	4	601_604	c.394_397delACTC	c.(394-399)acfs	p.TH132fs		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	132	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CTTCCTGGAGACTCACTTCCTAGA	0.525													60	157	---	---	---	---					
CAPN6	827	broad.mit.edu	37	X	110490693	110490698	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chrX:110490693_110490698delTCCTCC	ENST00000324068.1	-	12	1808_1813	c.1641_1646delGGAGGA	c.(1639-1647)aaa>aa	p.KEE547del	CAPN6_ENST00000541758.1_In_Frame_Del_p.KEE292del	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	547	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGAACGGACTTCCTCCTTTCCACATT	0.393													21	26	---	---	---	---					
TBL1Y	90665	broad.mit.edu	37	Y	6948772	6948773	+	Splice_Site	INS	-	-	C			TCGA-CV-7418-01A-11D-2078-08	TCGA-CV-7418-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25a70d04-f533-4e60-b9fc-e74d600db296	269e1950-5b9e-4b06-9dbe-d809e280243b	g.chrY:6948772_6948773insC	ENST00000383032.1	+	14	1602_1603		c.e14-1		TBL1Y_ENST00000355162.2_Splice_Site|TBL1Y_ENST00000346432.3_Splice_Site	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked						transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CCCTGCTGCAGCCCCCGCCCTT	0.510													34	15	---	---	---	---					
