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
ELN	2006	broad.mit.edu	37	7	73480297	73480297	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:73480297C>T	ENST00000252034.7	+	31	2455	c.2056C>T	c.(2056-2058)Cta>Tta	p.L686L	ELN_ENST00000429192.1_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000414324.1_Silent_p.L662L|ELN_ENST00000358929.4_Silent_p.L754L|ELN_ENST00000380575.4_Intron|ELN_ENST00000380576.5_Silent_p.L667L|ELN_ENST00000357036.5_Intron|ELN_ENST00000320399.6_Silent_p.L719L|ELN_ENST00000320492.7_Silent_p.L605L|ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Silent_p.L692L|ELN_ENST00000458204.1_Silent_p.L676L|ELN_ENST00000445912.1_Intron	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	748	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.L686L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGAGGTGTCCTAGGGGGTGC	0.622000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						4	144					0	0	0.014758	0	0
TIGIT	201633	broad.mit.edu	37	3	114014579	114014579	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:114014579T>A	ENST00000481065.1	+	3	3065	c.450T>A	c.(448-450)gaT>gaA	p.D150E	TIGIT_ENST00000486257.1_Missense_Mutation_p.D83E|TIGIT_ENST00000383671.3_Missense_Mutation_p.D83E			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	83					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D83E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CCTTCAAGGATCGAGTGGCCC	0.592000													17	55					0	0	0.028581	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42109166	42109166	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:42109166G>T	ENST00000457542.2	+	14	1930	c.1644G>T	c.(1642-1644)ggG>ggT	p.G548G	MAPKBP1_ENST00000456763.2_Silent_p.G554G|MAPKBP1_ENST00000260357.7_Silent_p.G387G|MAPKBP1_ENST00000221214.6_Silent_p.G431G|MAPKBP1_ENST00000514566.1_Silent_p.G548G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	554								p.G548G(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGGATGCCGGGCGGGAGTACA	0.582000													30	55					8.4185e-14	1.16426e-13	0.012213	1	0
AZI1	22994	broad.mit.edu	37	17	79165040	79165040	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:79165040G>T	ENST00000269392.4	-	22	2974	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A	AZI1_ENST00000575907.1_Silent_p.A873A|AZI1_ENST00000450824.2_Silent_p.A906A|AZI1_ENST00000374782.3_Silent_p.A870A	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	909					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.A870A(1)|p.A906A(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCGCCATGTCGGCCTCCAGCC	0.652000													12	68					1.52009e-12	2.03304e-12	0.024245	1	0
CHIT1	1118	broad.mit.edu	37	1	203194938	203194938	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:203194938G>A	ENST00000367229.1	-	3	150	c.116C>T	c.(115-117)gCt>gTt	p.A39V	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.A49V|CHIT1_ENST00000255427.3_Missense_Mutation_p.A39V	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	39					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.A39V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CAGGAAGCGAGCCTCCCCCTG	0.577000													16	133					0	0	0.006122	0	0
OR2M4	26245	broad.mit.edu	37	1	248402862	248402862	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:248402862T>G	ENST00000306687.1	+	1	632	c.632T>G	c.(631-633)gTt>gGt	p.V211G		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V211G(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCTTTCCAGTTTCAGTTATC	0.463000													7	140					0	0	0.003080	0	0
TUBD1	51174	broad.mit.edu	37	17	57968330	57968330	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:57968330C>A	ENST00000325752.3	-	2	311	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.G12C|TUBD1_ENST00000592426.1_Missense_Mutation_p.G12C|TUBD1_ENST00000376094.4_Missense_Mutation_p.G12C|TUBD1_ENST00000346141.6_Missense_Mutation_p.G12C|TUBD1_ENST00000340993.6_Missense_Mutation_p.G12C	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	12					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.G12C(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ATCTGATTGCCACACTGACCA	0.408000													42	88					5.44703e-19	7.97425e-19	0.036044	1	0
CENPI	2491	broad.mit.edu	37	X	100403112	100403112	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:100403112C>A	ENST00000372927.1	+	19	2333	c.2056C>A	c.(2056-2058)Cct>Act	p.P686T	CENPI_ENST00000218507.5_Missense_Mutation_p.P686T|CENPI_ENST00000423383.1_Missense_Mutation_p.P686T	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	686					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.P686N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGTCCATCATCCTTCTTTCTT	0.348000													31	155					2.47316e-13	3.36308e-13	0.015359	1	0
ERBB3	2065	broad.mit.edu	37	12	56489093	56489093	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:56489093G>T	ENST00000267101.3	+	16	2352	c.1913_splice	c.e16+1	p.G638_splice	ERBB3_ENST00000415288.2_Splice_Site_p.G579_splice|ERBB3_ENST00000450146.2_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	638					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.G638C(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGTGCTGATCGGGTATGATGG	0.502000													39	70					4.01765e-15	5.67712e-15	0.036044	1	0
RNF133	168433	broad.mit.edu	37	7	122338100	122338100	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:122338100C>A	ENST00000340112.2	-	1	1110	c.873G>T	c.(871-873)ggG>ggT	p.G291G	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	291						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.G291G(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGGGGCATGTCCCATGGGGTA	0.373000													46	39					2.55665e-31	4.11342e-31	0.014410	1	0
BTK	695	broad.mit.edu	37	X	100613365	100613365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:100613365G>T	ENST00000308731.7	-	12	1198	c.1035C>A	c.(1033-1035)taC>taA	p.Y345*	BTK_ENST00000372880.1_Nonsense_Mutation_p.Y345*	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	345	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.Y345*(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTCAGCCAGGTAATACTGGC	0.498000									Agammaglobulinemia, X-linked				68	305					9.65139e-37	1.61686e-36	0.014410	1	0
TUBB4A	10382	broad.mit.edu	37	19	6496231	6496231	+	Splice_Site	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:6496231G>A	ENST00000264071.2	-	4	650	c.277_splice	c.e4-1	p.G93_splice	TUBB4A_ENST00000596926.1_3'UTR|TUBB4A_ENST00000598006.1_Splice_Site_p.A79_splice|TUBB4A_ENST00000540257.1_Splice_Site_p.G93_splice|TUBB4A_ENST00000601152.1_Splice_Site_p.A68_splice			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	93					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G93G(1)									CTCCGGATTGGCCTAGAGAGG	0.612000													32	31					0	0	0.013726	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067170	46067170	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:46067170C>A	ENST00000334670.8	+	1	840	c.795C>A	c.(793-795)tcC>tcA	p.S265S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	259						keratin filament		p.S265S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCTGCCAGTCCAGCTGCTGCC	0.692000													26	14					3.21987e-24	4.98313e-24	0.014410	1	0
ARHGEF37	389337	broad.mit.edu	37	5	149008426	149008426	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:149008426G>A	ENST00000333677.6	+	12	1878	c.1715G>A	c.(1714-1716)aGt>aAt	p.S572N		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	572					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.S572N(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GTGGTCCCCAGTGCAGAGGAG	0.602000													7	23					0	0	0.029380	0	0
MUC16	94025	broad.mit.edu	37	19	9066581	9066581	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:9066581C>G	ENST00000397910.4	-	3	21068	c.20865G>C	c.(20863-20865)gaG>gaC	p.E6955D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6957	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E6955D(2)|p.E2588D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATGCTGGTCTCTCTCAGTC	0.448000													20	234					0	0	0.007413	0	0
WIPF1	7456	broad.mit.edu	37	2	175431778	175431778	+	Silent	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:175431778A>C	ENST00000409891.1	-	7	1678	c.1476T>G	c.(1474-1476)ggT>ggG	p.G492G	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392547.2_Intron|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Intron|WIPF1_ENST00000392546.2_Intron|WIPF1_ENST00000272746.5_Intron			O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	0					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATCTTCAAAAACCTTGGCAGA	0.483000													7	53					0	0	0.003080	0	0
VTA1	51534	broad.mit.edu	37	6	142468431	142468431	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:142468431G>T	ENST00000367630.4	+	1	65	c.7G>T	c.(7-9)Gcg>Tcg	p.A3S	VTA1_ENST00000452973.2_5'UTR|VTA1_ENST00000367621.1_5'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	3	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	p.A3S(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGAGATGGCCGCGCTTGCACC	0.617000											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	34					1.12685e-05	1.28051e-05	0.004482	1	0
PMFBP1	83449	broad.mit.edu	37	16	72159911	72159911	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:72159911T>G	ENST00000537465.1	-	15	2382	c.2224A>C	c.(2224-2226)Aag>Cag	p.K742Q	PMFBP1_ENST00000237353.10_Missense_Mutation_p.K737Q|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K592Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	742								p.K737Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCGGCTGACTTCCGGGATAAT	0.542000													52	66					0	0	0.014410	0	0
PDHA2	5161	broad.mit.edu	37	4	96762282	96762282	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:96762282C>A	ENST00000295266.4	+	1	1044	c.981C>A	c.(979-981)ctC>ctA	p.L327L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	327					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.L327L(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACAGCAAGCTCGCCACTGTGG	0.428000													35	56					4.0306e-16	5.77068e-16	0.014410	1	0
BRS3	680	broad.mit.edu	37	X	135574142	135574142	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:135574142G>T	ENST00000370648.3	+	3	1036	c.808G>T	c.(808-810)Gcc>Tcc	p.A270S		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	270					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.A270S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAAGAGAATTGCCAGAACGGT	0.363000													12	185					2.80697e-09	3.48193e-09	0.010729	1	0
OR4C13	283092	broad.mit.edu	37	11	49974727	49974727	+	Silent	SNP	C	C	A	rs150732180		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:49974727C>A	ENST00000555099.1	+	1	785	c.753C>A	c.(751-753)ccC>ccA	p.P251P		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P251P(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTTTATACCCTGCATATTTG	0.418000													34	138					1.49673e-21	2.24165e-21	0.025465	1	0
PSME4	23198	broad.mit.edu	37	2	54120044	54120044	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:54120044T>A	ENST00000404125.1	-	36	4147	c.4092A>T	c.(4090-4092)ttA>ttT	p.L1364F	PSME4_ENST00000421748.2_Missense_Mutation_p.L508F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.L1250F(1)|p.L1364F(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAAATGTTCTAAATGGGGCT	0.393000													28	65					0	0	0.012213	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043658	71043658	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:71043658G>C	ENST00000272367.2	-	4	931	c.855C>G	c.(853-855)atC>atG	p.I285M	CLEC4F_ENST00000426626.1_Missense_Mutation_p.I285M	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	285					endocytosis	integral to membrane	receptor activity|sugar binding	p.I285M(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTAGTCCCTGGATCTCAGCAT	0.418000													69	138					0	0	0.014410	0	0
CDYL	9425	broad.mit.edu	37	6	4892352	4892352	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:4892352G>T	ENST00000328908.5	+	4	723	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L	CDYL_ENST00000449732.2_Missense_Mutation_p.V12L|CDYL_ENST00000397588.3_Missense_Mutation_p.V144L|CDYL_ENST00000343762.5_Missense_Mutation_p.V12L|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	198					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.V198L(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CAAGATCCTCGTGCCTAAAAG	0.567000													40	78					1.07121e-22	1.61927e-22	0.027894	1	0
OR13C4	138804	broad.mit.edu	37	9	107288692	107288692	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:107288692G>T	ENST00000277216.3	-	1	798	c.799C>A	c.(799-801)Ctc>Atc	p.L267I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L267I(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TTCCCAAGGAGGTCCTGGGAC	0.428000													10	76					1.58986e-06	1.84538e-06	0.008291	1	0
KRI1	65095	broad.mit.edu	37	19	10665777	10665777	+	Silent	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10665777T>G	ENST00000312962.6	-	18	1804	c.1785A>C	c.(1783-1785)tcA>tcC	p.S595S	KRI1_ENST00000361821.5_Silent_p.S591S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	595								p.S595S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ctCGGCAGAGTGACTTGAAGA	0.602000													4	67					0	0	0.009096	0	0
ACRC	93953	broad.mit.edu	37	X	70823472	70823472	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70823472C>A	ENST00000373695.1	+	7	882	c.345C>A	c.(343-345)gcC>gcA	p.A115A	ACRC_ENST00000373696.3_Silent_p.A115A			Q96QF7	ACRC_HUMAN	acidic repeat containing	115						nucleus		p.A115A(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGAAGCCTGCCATCCAGGAAC	0.413000													46	258					3.54909e-21	5.29107e-21	0.011902	1	0
ZNF615	284370	broad.mit.edu	37	19	52497466	52497466	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:52497466T>C	ENST00000602063.1	-	6	1212	c.863A>G	c.(862-864)tAc>tGc	p.Y288C	ZNF615_ENST00000391795.3_Missense_Mutation_p.Y293C|ZNF615_ENST00000594083.1_Missense_Mutation_p.Y299C|ZNF615_ENST00000376716.5_Missense_Mutation_p.Y288C|ZNF615_ENST00000598071.1_Missense_Mutation_p.Y299C			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y288C(1)|p.Y299C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCTACATGTGTAAGGTTTCCC	0.408000													7	166					0	0	0.003080	0	0
PRDM10	56980	broad.mit.edu	37	11	129794872	129794872	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:129794872G>A	ENST00000358825.5	-	13	2026	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	PRDM10_ENST00000423662.2_Missense_Mutation_p.R513C|PRDM10_ENST00000304538.6_Missense_Mutation_p.R509C|PRDM10_ENST00000526082.1_Missense_Mutation_p.R513C|PRDM10_ENST00000360871.3_Missense_Mutation_p.R595C|PRDM10_ENST00000528746.1_Missense_Mutation_p.R569C	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R595C(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AAATCAAGGCGGTCAAAGGAT	0.453000													33	112					0	0	0.015359	0	0
ZNF98	148198	broad.mit.edu	37	19	22605017	22605017	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:22605017G>T	ENST00000357774.5	-	1	131	c.10C>A	c.(10-12)Ccc>Acc	p.P4T	ZNF98_ENST00000601553.1_Missense_Mutation_p.P4T	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P4T(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CTTCCAAGGGGTCCTGGCATC	0.597000													20	118					6.44725e-10	8.18499e-10	0.014323	1	0
TJAP1	93643	broad.mit.edu	37	6	43471199	43471199	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:43471199A>G	ENST00000372444.2	+	9	851	c.418A>G	c.(418-420)Aag>Gag	p.K140E	TJAP1_ENST00000438588.2_Missense_Mutation_p.K150E|TJAP1_ENST00000436109.2_Missense_Mutation_p.K140E|TJAP1_ENST00000372449.1_Missense_Mutation_p.K150E|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372445.5_Missense_Mutation_p.K150E|TJAP1_ENST00000259751.1_Missense_Mutation_p.K140E|TJAP1_ENST00000372452.1_Missense_Mutation_p.K140E	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	150						Golgi apparatus|tight junction	protein binding	p.K140E(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGACCAACAAGCTGCTGGA	0.527000													4	83					0	0	0.014758	0	0
THSD7A	221981	broad.mit.edu	37	7	11501720	11501720	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:11501720G>T	ENST00000423059.3	-	10	2670	c.2419C>A	c.(2419-2421)Cca>Aca	p.P807T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	807	TSP type-1 8.					integral to membrane		p.P807T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCGTTGGCTGGCAGCTGAATG	0.507000										HNSCC(18;0.044)			60	118					3.95532e-38	6.73026e-38	0.014410	1	0
SLC39A5	283375	broad.mit.edu	37	12	56629465	56629465	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:56629465G>A	ENST00000266980.4	+	6	1219	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309Q	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R308Q(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCTTTTGCGGCACCGAGGG	0.632000													10	316					0	0	0.008291	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292102	89292102	+	RNA	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:89292102C>T	ENST00000495489.1	-	0	223																											CTGGTTTTTGCTGATACCAGG	0.507000													4	208					0	0	0.009096	0	0
PI4KB	5298	broad.mit.edu	37	1	151280153	151280153	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:151280153T>C	ENST00000368875.2	-	5	1695	c.1115A>G	c.(1114-1116)aAc>aGc	p.N372S	PI4KB_ENST00000271657.5_Missense_Mutation_p.N372S|PI4KB_ENST00000529142.1_Missense_Mutation_p.N28S|PI4KB_ENST00000368873.1_Missense_Mutation_p.N360S|PI4KB_ENST00000368872.1_Missense_Mutation_p.N345S|PI4KB_ENST00000368874.4_Missense_Mutation_p.N345S	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	360					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.N372S(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCTTATGGTTGAGCAGGGA	0.587000													50	78					0	0	0.014410	0	0
TBX3	6926	broad.mit.edu	37	12	115120699	115120699	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:115120699G>T	ENST00000349155.2	-	1	1270	c.307C>A	c.(307-309)Ccc>Acc	p.P103T	TBX3_ENST00000257566.3_Missense_Mutation_p.P103T	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	103					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.P103T(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCACCTTGGGGTCGTCCTCC	0.622000													22	49					1.1804e-14	1.65357e-14	0.021523	1	0
COL6A3	1293	broad.mit.edu	37	2	238234302	238234302	+	Missense_Mutation	SNP	G	G	A	rs147533489	byFrequency	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:238234302G>A	ENST00000295550.4	-	43	9846	c.9394C>T	c.(9394-9396)Cca>Tca	p.P3132S	COL6A3_ENST00000346358.4_Missense_Mutation_p.P2932S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P2926S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P2926S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P2931S|COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000472056.1_Missense_Mutation_p.P2525S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3132	BPTI/Kunitz inhibitor.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.P3132S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGGTGTTTGGATCATAGTAC	0.373000													26	184					0	0	0.030593	0	0
RRN3P2	653390	broad.mit.edu	37	16	29096541	29096541	+	RNA	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:29096541G>T	ENST00000564580.1	+	0	533																		p.R129L(1)									TCAAAAGCCCGAGTGATCATT	0.358000													13	43					5.35267e-07	6.30296e-07	0.007413	1	0
WNT10B	7480	broad.mit.edu	37	12	49362049	49362049	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:49362049C>A	ENST00000301061.4	-	4	739	c.391G>T	c.(391-393)Gca>Tca	p.A131S	WNT10B_ENST00000403957.1_Missense_Mutation_p.A131S|WNT10B_ENST00000407467.1_Missense_Mutation_p.A131S	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	131					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.A131S(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GTGGCTACTGCGTGCATGACC	0.602000													15	28					1.5739e-10	2.02983e-10	0.028581	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554525	20554525	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:20554525C>T	ENST00000329697.6	-	11	1509	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	ACSM2B_ENST00000565322.1_Silent_p.R368R|ACSM2B_ENST00000567001.1_Silent_p.R447R|ACSM2B_ENST00000565232.1_Silent_p.R447R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	447					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R447R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTTGATTCCCCGGTCTCCAA	0.493000													29	375					0	0	0.012213	0	0
TNR	7143	broad.mit.edu	37	1	175336417	175336417	+	Silent	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:175336417A>T	ENST00000367674.1	-	10	2688	c.1980T>A	c.(1978-1980)acT>acA	p.T660T	TNR_ENST00000263525.2_Silent_p.T660T	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	660	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T660T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTCCATACTCAGTGCCAGGTA	0.483000													15	95					0	0	0.006122	0	0
GABRB1	2560	broad.mit.edu	37	4	47408881	47408881	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:47408881G>C	ENST00000295454.3	+	8	1310	c.1018G>C	c.(1018-1020)Gga>Cga	p.G340R	GABRB1_ENST00000538619.1_Missense_Mutation_p.G270R	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	340					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G340R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCAGAAAAAGGGAGCTAGCAA	0.373000													18	75					0	0	0.008871	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562314	140562314	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140562314C>A	ENST00000361016.2	+	1	1335	c.180C>A	c.(178-180)tcC>tcA	p.S60S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		60	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S60S(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGATGTCCACCCGCAAGG	0.517000													9	126					2.17888e-05	2.46737e-05	0.006214	1	0
TFB2M	64216	broad.mit.edu	37	1	246714570	246714570	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:246714570T>C	ENST00000366514.4	-	5	925	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	247					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.Y247C(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TAATACATGATACAAGTCTGG	0.323000													22	71					0	0	0.018920	0	0
SPTA1	6708	broad.mit.edu	37	1	158597480	158597480	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:158597480C>G	ENST00000368148.3	-	40	5779	c.5599G>C	c.(5599-5601)Gac>Cac	p.D1867H	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.D1867H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1867					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1867H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAGCAAAGTCATTTTCCAAA	0.398000													104	109					0	0	0.014410	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900091	4900091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:4900091C>A	ENST00000404991.1	-	1	1534	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	450					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGAGAATTTCAGAATTATCT	0.378000													80	112					1.91123e-38	3.2692e-38	0.014410	1	0
TRIM47	91107	broad.mit.edu	37	17	73870695	73870695	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:73870695G>A	ENST00000254816.2	-	6	1812	c.1786C>T	c.(1786-1788)Cgc>Tgc	p.R596C	TRIM47_ENST00000587339.1_Missense_Mutation_p.R358C	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	596	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding	p.R596C(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTCCAGGCGGCTCTGGAAG	0.657000													43	105					0	0	0.014410	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	113					0	0	0.003080	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907024	39907024	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:39907024C>T	ENST00000425673.1	+	5	841	c.516C>T	c.(514-516)gcC>gcT	p.A172A	PLEKHG2_ENST00000409797.2_Silent_p.A172A|PLEKHG2_ENST00000409794.3_Silent_p.A172A|PLEKHG2_ENST00000378550.1_Silent_p.A172A|PLEKHG2_ENST00000458508.2_Silent_p.A113A			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	172	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.A172A(1)|p.A130A(1)|p.A113A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCAGCGCCGGGGGTATTG	0.667000													13	152					0	0	0.020292	0	0
EYS	346007	broad.mit.edu	37	6	66063453	66063453	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:66063453G>T	ENST00000503581.1	-	9	1894	c.1357C>A	c.(1357-1359)Cta>Ata	p.L453I	EYS_ENST00000393380.2_Missense_Mutation_p.L453I|EYS_ENST00000370616.2_Missense_Mutation_p.L453I|EYS_ENST00000370618.3_Missense_Mutation_p.L453I|EYS_ENST00000370621.3_Missense_Mutation_p.L453I|EYS_ENST00000342421.5_Missense_Mutation_p.L453I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	453					response to stimulus|visual perception	extracellular region	calcium ion binding	p.L453I(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGATGAATTAGGTAAACATTC	0.373000													14	57					1.05317e-09	1.32155e-09	0.020292	1	0
OR4A16	81327	broad.mit.edu	37	11	55110823	55110823	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:55110823C>A	ENST00000314721.2	+	1	197	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G49G(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTACTATTGGCAGCCCCTCCT	0.413000													52	92					1.03172e-35	1.70208e-35	0.014410	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135721504	135721504	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:135721504A>G	ENST00000264977.3	+	2	1781	c.1164A>G	c.(1162-1164)ctA>ctG	p.L388L	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	388					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	p.L388L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTAGAACTCTAAAAGCTGTCC	0.358000													19	31					0	0	0.014323	0	0
HYDIN	54768	broad.mit.edu	37	16	70896074	70896074	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:70896074C>A	ENST00000393567.2	-	69	11804	c.11654G>T	c.(11653-11655)gGt>gTt	p.G3885V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3885								p.G3884V(1)|p.G3836V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTGGGGAACCCTCGGCCCA	0.562000													12	19					0.000978159	0.00106322	0.010729	1	0
CD163L1	283316	broad.mit.edu	37	12	7586276	7586276	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:7586276C>A	ENST00000313599.3	-	3	196	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.E47*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.E47*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	47						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E47*(1)|p.E47Q(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCCTCAACTCCAAATCTGTT	0.458000													12	53					0.000308642	0.000341186	0.024245	1	0
GPR158	57512	broad.mit.edu	37	10	25887711	25887711	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:25887711T>A	ENST00000376351.3	+	11	3515	c.3156T>A	c.(3154-3156)ccT>ccA	p.P1052P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1052						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1052P(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCACAAGCCTAAGGCAGCTG	0.438000													24	93					0	0	0.030593	0	0
RBBP8	5932	broad.mit.edu	37	18	20577615	20577615	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:20577615A>G	ENST00000399722.2	+	14	2412	c.2061A>G	c.(2059-2061)acA>acG	p.T687T	RBBP8_ENST00000399725.2_Silent_p.T687T|RBBP8_ENST00000327155.5_Silent_p.T687T|RBBP8_ENST00000360790.5_Silent_p.T687T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	687					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.T687T(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAGGAGAGACAGTGGACATGG	0.299000								Homologous recombination					6	7					0	0	0.003080	0	0
ANK2	287	broad.mit.edu	37	4	114254323	114254323	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:114254323C>A	ENST00000357077.4	+	29	3391	c.3338C>A	c.(3337-3339)aCt>aAt	p.T1113N	ANK2_ENST00000509550.1_Missense_Mutation_p.T289N|ANK2_ENST00000394537.3_Missense_Mutation_p.T1113N|ANK2_ENST00000506722.1_Missense_Mutation_p.T1104N|ANK2_ENST00000264366.6_Missense_Mutation_p.T1080N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1080	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T1113N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGACTACACTGAAGATGAA	0.433000													51	50					1.15193e-12	1.55343e-12	0.014410	1	0
ARMC3	219681	broad.mit.edu	37	10	23297778	23297778	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:23297778T>A	ENST00000298032.5	+	16	2047	c.1963T>A	c.(1963-1965)Tct>Act	p.S655T	ARMC3_ENST00000376528.4_Missense_Mutation_p.S392T|ARMC3_ENST00000409049.3_Missense_Mutation_p.S655T|ARMC3_ENST00000409983.3_Missense_Mutation_p.S648T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	655							binding	p.S655T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGATTTGGATCTCCCATAGA	0.363000													12	24					0	0	0.020292	0	0
ATP2C1	27032	broad.mit.edu	37	3	130682828	130682828	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:130682828G>A	ENST00000510168.1	+	13	1463	c.913G>A	c.(913-915)Gca>Aca	p.A305T	ATP2C1_ENST00000422190.2_Missense_Mutation_p.A305T|ATP2C1_ENST00000504948.1_Missense_Mutation_p.A289T|ATP2C1_ENST00000507488.2_Missense_Mutation_p.A289T|ATP2C1_ENST00000393221.4_Missense_Mutation_p.A339T|ATP2C1_ENST00000505330.1_Missense_Mutation_p.A289T|ATP2C1_ENST00000428331.2_Missense_Mutation_p.A305T|ATP2C1_ENST00000504381.1_Missense_Mutation_p.A250T|ATP2C1_ENST00000508532.1_Missense_Mutation_p.A305T|ATP2C1_ENST00000359644.3_Missense_Mutation_p.A305T|ATP2C1_ENST00000513801.1_Missense_Mutation_p.A289T|ATP2C1_ENST00000328560.8_Missense_Mutation_p.A305T|ATP2C1_ENST00000533801.2_Missense_Mutation_p.A300T			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	305					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	p.A305T(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GGCTGTAGCAGCAATTCCTGA	0.378000									Hailey-Hailey disease				16	64					0	0	0.033300	0	0
IGFN1	91156	broad.mit.edu	37	1	201184736	201184736	+	Missense_Mutation	SNP	C	C	T	rs149837907	by1000genomes	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:201184736C>T	ENST00000335211.4	+	15	9195	c.9065C>T	c.(9064-9066)cCg>cTg	p.P3022L	IGFN1_ENST00000451870.2_Splice_Site_p.P565_splice|IGFN1_ENST00000295591.8_Missense_Mutation_p.P182L	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.P3022L(1)|p.P182L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGGGAAGCCGGTGATAGTG	0.562000													19	65					0	0	0.007413	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617093	77617093	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:77617093C>G	ENST00000521891.2	+	2	1218	c.770C>G	c.(769-771)cCt>cGt	p.P257R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P257R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P257R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P257R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P257R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGATGTCCCTAACAATGTG	0.418000										HNSCC(33;0.089)			29	55					0	0	0.009535	0	0
MSLNL	401827	broad.mit.edu	37	16	830202	830202	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:830202G>T	ENST00000293892.3	-	3	798	c.799C>A	c.(799-801)Cct>Act	p.P267T	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	512					cell adhesion	integral to membrane		p.P267T(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCGGGAGCAGGGGCCGGGGCA	0.677000													4	27					5.9392e-07	6.96838e-07	0.021553	1	0
ATP10D	57205	broad.mit.edu	37	4	47565645	47565645	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:47565645A>T	ENST00000273859.3	+	15	2985	c.2716A>T	c.(2716-2718)Ata>Tta	p.I906L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	906					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.I906L(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCCTGAATCTATAGAAGCTCT	0.473000													15	83					0	0	0.020292	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221403	20221403	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr13:20221403G>T	ENST00000361479.5	+	3	1258	c.1190G>T	c.(1189-1191)gGc>gTc	p.G397V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.G397V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	397					cell cycle	cytoplasm|nucleus		p.G397V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAGAGAGAGGCCTCTGGTCC	0.542000													14	22					6.94344e-10	8.78062e-10	0.006122	1	0
AMOT	154796	broad.mit.edu	37	X	112024258	112024258	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:112024258C>A	ENST00000371959.3	-	9	2328	c.2329G>T	c.(2329-2331)Gag>Tag	p.E777*	AMOT_ENST00000304758.1_Nonsense_Mutation_p.E368*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.E545*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.E777*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.E545*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	777					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.E368*(2)|p.E777*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GACAGCTGCTCTGTCTTGCTC	0.547000													146	232					1.01383e-91	1.78105e-91	0.014410	1	0
BNC2	54796	broad.mit.edu	37	9	16437347	16437347	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:16437347A>T	ENST00000380672.4	-	6	902	c.845T>A	c.(844-846)aTa>aAa	p.I282K	BNC2_ENST00000380667.2_Missense_Mutation_p.I215K|BNC2_ENST00000545497.1_Missense_Mutation_p.I187K|BNC2_ENST00000380666.2_Missense_Mutation_p.I282K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.I282K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAAAGTCCTTATATCTGAGTC	0.473000													17	163					0	0	0.033300	0	0
HEY2	23493	broad.mit.edu	37	6	126080924	126080924	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:126080924G>T	ENST00000368364.3	+	5	1187	c.990G>T	c.(988-990)tgG>tgT	p.W330C	HEY2_ENST00000368365.1_Missense_Mutation_p.W284C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	330					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	p.W330C(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACCGACCCTGGGGGACAGAAG	0.493000													47	82					1.63429e-32	2.64251e-32	0.014410	1	0
PSG8	440533	broad.mit.edu	37	19	43262242	43262242	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:43262242G>T	ENST00000404209.4	-	3	717	c.621C>A	c.(619-621)gtC>gtA	p.V207V	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.V85V|PSG8_ENST00000306511.4_Silent_p.V207V	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	207	Ig-like C2-type 1.					extracellular region		p.V207V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTACTTTGTGACACCCAATA	0.512000													157	187					1.34836e-70	2.356e-70	0.014410	1	0
E2F7	144455	broad.mit.edu	37	12	77424063	77424063	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:77424063C>G	ENST00000322886.7	-	10	1667	c.1432G>C	c.(1432-1434)Gac>Cac	p.D478H	E2F7_ENST00000416496.2_Missense_Mutation_p.D478H	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	478					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.D478H(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GCAACAGGGTCCAAGCTGCTT	0.468000													67	159					0	0	0.014410	0	0
LRRC7	57554	broad.mit.edu	37	1	70226072	70226072	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:70226072C>A	ENST00000310961.5	+	4	618	c.200C>A	c.(199-201)cCc>cAc	p.P67H	LRRC7_ENST00000035383.5_Missense_Mutation_p.P62H|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.P100H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	62						centrosome|focal adhesion|nucleolus	protein binding	p.P62H(1)|p.P100H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAGAACTACCCAAGGTAACT	0.353000													28	33					2.80507e-11	3.70589e-11	0.012213	1	0
EPC1	80314	broad.mit.edu	37	10	32573955	32573955	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:32573955G>A	ENST00000319778.6	-	10	1717	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	EPC1_ENST00000263062.8_Missense_Mutation_p.S472L|EPC1_ENST00000375110.2_Missense_Mutation_p.S422L	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	472					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		p.S472L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTCATAGTCTGAATGAGCTCT	0.338000													31	106					0	0	0.015359	0	0
ECM1	1893	broad.mit.edu	37	1	150484952	150484952	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:150484952C>T	ENST00000369047.4	+	8	1333	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	ECM1_ENST00000369049.4_Missense_Mutation_p.P430L|ECM1_ENST00000346569.6_Missense_Mutation_p.P278L|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	403	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	p.P403L(1)|p.P430L(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTCCTTACCCCAACTATGAC	0.572000													37	132					0	0	0.017118	0	0
SKP2	6502	broad.mit.edu	37	5	36183971	36183971	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:36183971G>T	ENST00000274254.5	+	10	1365	c.1091G>T	c.(1090-1092)cGg>cTg	p.R364L	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R364L(1)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTTAGGATCCGGTTGGACTCT	0.368000													18	97					4.96729e-08	6.04633e-08	0.008871	1	0
ITIH5	80760	broad.mit.edu	37	10	7618929	7618929	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:7618929C>T	ENST00000256861.6	-	10	1543	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.D271N|ITIH5_ENST00000397146.2_Missense_Mutation_p.D489N|ITIH5_ENST00000298441.6_Missense_Mutation_p.D275N|ITIH5_ENST00000397145.2_Missense_Mutation_p.D489N	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	489					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.D489N(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGGGGATAATCGATGCGGATG	0.587000													14	65					0	0	0.024245	0	0
TSIX	9383	broad.mit.edu	37	X	73041658	73041658	+	RNA	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:73041658C>T	ENST00000604411.1	+	0	29619				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAAACTTAAGCATGGTAAAAT	0.289000													6	10					0	0	0.029380	0	0
TRIM51	84767	broad.mit.edu	37	11	55658932	55658932	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:55658932T>A	ENST00000449290.2	+	7	1275	c.1183T>A	c.(1183-1185)Tcc>Acc	p.S395T	TRIM51_ENST00000244891.3_Missense_Mutation_p.S252T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	395	B30.2/SPRY.					intracellular	zinc ion binding	p.S236T(1)|p.S395T(1)									CTTTACCACCTCCCCACTTGT	0.448000													19	47					0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179614294	179614294	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179614294T>G	ENST00000360870.5	-	46	13055	c.12833A>C	c.(12832-12834)cAg>cCg	p.Q4278P	TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	420							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)			AGATTCTCCCTGGTCTTGCAG	0.373000													6	69					0	0	0.029380	0	0
DBR1	51163	broad.mit.edu	37	3	137881363	137881363	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:137881363G>A	ENST00000260803.4	-	8	1156	c.1003C>T	c.(1003-1005)Ctc>Ttc	p.L335F	DBR1_ENST00000505015.2_Missense_Mutation_p.L101F	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	335						nucleus	metal ion binding|RNA lariat debranching enzyme activity	p.L335F(1)		NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GGAACCTTGAGATCATGATTC	0.353000													21	93					0	0	0.010504	0	0
AGMO	392636	broad.mit.edu	37	7	15599801	15599801	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:15599801C>A	ENST00000342526.3	-	2	391	c.222G>T	c.(220-222)acG>acT	p.T74T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	74					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.T74T(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTGAGATTGACGTTAAAGCAT	0.453000													22	65					7.76418e-22	1.16822e-21	0.027356	1	0
SLC7A3	84889	broad.mit.edu	37	X	70147433	70147433	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70147433C>A	ENST00000374299.3	-	7	1228	c.1084G>T	c.(1084-1086)Gcg>Tcg	p.A362S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.A362S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	362					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		p.A362S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGCCATCGCGTAGATCACC	0.587000													10	41					3.86212e-05	4.31336e-05	0.008291	1	0
ATAD2B	54454	broad.mit.edu	37	2	23980357	23980357	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:23980357A>T	ENST00000238789.5	-	25	4352	c.4009T>A	c.(4009-4011)Tgt>Agt	p.C1337S	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1337							ATP binding|nucleoside-triphosphatase activity	p.C1337S(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATTGCTACATTCCAGTGCC	0.378000													48	140					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73480420	73480420	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:73480420G>C	ENST00000523207.1	+	2	1039	c.451G>C	c.(451-453)Gaa>Caa	p.E151Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	151					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E151Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATGAACGAAGAACTGAGGCG	0.458000													67	149					0	0	0.014410	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554630	140554630	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140554630C>G	ENST00000231137.3	+	1	2388	c.2214C>G	c.(2212-2214)agC>agG	p.S738R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		738					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S738R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACTTGAGCGGCACCGGGA	0.617000													31	145					0	0	0.010818	0	0
LILRB2	10288	broad.mit.edu	37	19	54782221	54782221	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:54782221C>T	ENST00000391748.1	-	7	1278	c.1151G>A	c.(1150-1152)aGt>aAt	p.S384N	LILRB2_ENST00000391746.1_Missense_Mutation_p.S384N|LILRB2_ENST00000391749.4_Missense_Mutation_p.S384N|LILRB2_ENST00000434421.1_Missense_Mutation_p.S268N|LILRB2_ENST00000314446.5_Missense_Mutation_p.S384N	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	384	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.S384N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACAGGACTCATGGGGAA	0.577000													35	149					0	0	0.019004	0	0
DPY19L2	283417	broad.mit.edu	37	12	63974596	63974596	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:63974596G>T	ENST00000324472.4	-	19	1929	c.1746C>A	c.(1744-1746)cgC>cgA	p.R582R	DPY19L2_ENST00000413230.2_Silent_p.R29R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	582					multicellular organismal development|spermatid development	integral to membrane		p.R582R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AACGAACTCTGCGAAAAAGCC	0.368000													19	37					3.62473e-10	4.63794e-10	0.012319	1	0
FBLN2	2199	broad.mit.edu	37	3	13659609	13659609	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:13659609T>A	ENST00000404922.3	+	6	1882	c.1763T>A	c.(1762-1764)cTg>cAg	p.L588Q	FBLN2_ENST00000535798.1_Missense_Mutation_p.L614Q|FBLN2_ENST00000492059.1_Missense_Mutation_p.L588Q|FBLN2_ENST00000295760.7_Missense_Mutation_p.L588Q	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	588						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.L7Q(1)|p.L588Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGAGAGGCCCTGTCACTGGGC	0.617000													39	62					0	0	0.014410	0	0
GPR143	4935	broad.mit.edu	37	X	9693874	9693874	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:9693874T>C	ENST00000467482.1	-	9	1273	c.1127A>G	c.(1126-1128)gAt>gGt	p.D376G	GPR143_ENST00000380929.2_Missense_Mutation_p.D396G			P51810	GP143_HUMAN	G protein-coupled receptor 143	376					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	p.D396G(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TGTGCTGGCATCAGAACCTGG	0.463000													6	47					0	0	0.029380	0	0
ZNF112	7665	broad.mit.edu	37	19	44832283	44832283	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:44832283G>A	ENST00000354340.4	-	4	2078	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	ZNF112_ENST00000536500.1_Missense_Mutation_p.A699V|ZNF112_ENST00000337401.4_Missense_Mutation_p.A682V	NM_013380.3	NP_037512.3			zinc finger protein 112									p.A676V(1)|p.A682V(1)									CCTCTGATGGGCCAAAAGTGT	0.438000													4	80					0	0	0.009096	0	0
TRIM28	10155	broad.mit.edu	37	19	59060467	59060467	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:59060467G>C	ENST00000253024.5	+	12	1811	c.1522G>C	c.(1522-1524)Gtc>Ctc	p.V508L	TRIM28_ENST00000341753.6_Missense_Mutation_p.V426L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	508	HP1 box.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	p.V508L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CGTCTTCAAGGTCTTCCCAGG	0.612000													31	35					0	0	0.037714	0	0
LCE2D	353141	broad.mit.edu	37	1	152636816	152636816	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:152636816C>G	ENST00000368784.1	+	2	290	c.235C>G	c.(235-237)Cgt>Ggt	p.R79G		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	79	Cys-rich.				keratinization			p.R79G(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGGCCCCGTCTCTTCCA	0.682000													59	47					0	0	0.014410	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412026	105412026	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:105412026G>T	ENST00000333244.5	-	7	9881	c.9762C>A	c.(9760-9762)gaC>gaA	p.D3254E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3254						nucleus		p.D3254D(1)|p.D3254E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTTTCAGGTCCAGCTTGG	0.607000													17	121					2.81731e-10	3.61908e-10	0.010818	1	0
RNF32	140545	broad.mit.edu	37	7	156468537	156468537	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:156468537T>A	ENST00000405335.1	+	9	1241	c.832T>A	c.(832-834)Tgg>Agg	p.W278R	AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000392743.2_Missense_Mutation_p.W278R|RNF32_ENST00000343665.4_Missense_Mutation_p.W254R|RNF32_ENST00000317955.5_Missense_Mutation_p.W278R|RNF32_ENST00000311822.8_Missense_Mutation_p.W278R|RNF32_ENST00000432459.2_Missense_Mutation_p.W278R			Q9H0A6	RNF32_HUMAN	ring finger protein 32	278						aggresome|endosome	protein binding|zinc ion binding	p.W278R(2)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGAAGAGGAATGGGAGAAAAT	0.522000													53	57					0	0	0.014410	0	0
FAM134A	79137	broad.mit.edu	37	2	220045854	220045854	+	Missense_Mutation	SNP	G	G	T	rs149941380	byFrequency	TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:220045854G>T	ENST00000430297.2	+	6	847	c.711G>T	c.(709-711)gaG>gaT	p.E237D		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	237						endoplasmic reticulum|integral to membrane		p.E237D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCGCCTGGAGCCCCTGCTCA	0.542000													23	126					7.87624e-14	1.09392e-13	0.016522	1	0
BRCA2	675	broad.mit.edu	37	13	32907276	32907276	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr13:32907276G>T	ENST00000544455.1	+	10	1888	c.1661G>T	c.(1660-1662)tGt>tTt	p.C554F	BRCA2_ENST00000380152.3_Missense_Mutation_p.C554F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	554			C -> W (in BC and pancreas cancer).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.C554F(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACTCCTTATGTCCAAATTTA	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			46	48					5.7616e-29	9.17902e-29	0.014410	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090339	238090339	+	RNA	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:238090339C>A	ENST00000450451.1	+	0	1845					NR_027247.2																						TGAAGTACCCCATTGAGCATG	0.607000													32	31					1.08052e-11	1.43334e-11	0.019004	1	0
INPP5D	3635	broad.mit.edu	37	2	234106843	234106843	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:234106843C>T	ENST00000359570.5	+	27	2760	c.2760C>T	c.(2758-2760)acC>acT	p.T920T	INPP5D_ENST00000455936.2_Silent_p.T684T|INPP5D_ENST00000450745.1_Silent_p.T684T			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	932	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.T932T(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGCAGACCTTGTCCCCTG	0.647000													5	40					0	0	0.029380	0	0
TLN1	7094	broad.mit.edu	37	9	35710595	35710595	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:35710595G>A	ENST00000314888.9	-	33	4642	c.4289C>T	c.(4288-4290)tCa>tTa	p.S1430L	TLN1_ENST00000540444.1_Missense_Mutation_p.S1430L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1430	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.S1430L(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTGCCTTTGAGGCTGTGGA	0.517000													13	31					0	0	0.008871	0	0
DUSP27	92235	broad.mit.edu	37	1	167097069	167097069	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:167097069C>A	ENST00000361200.2	+	6	2867	c.2701C>A	c.(2701-2703)Cgc>Agc	p.R901S	DUSP27_ENST00000443333.1_Missense_Mutation_p.R901S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R901S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	901	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R901S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATATTCTTCCCGCAGTAATTC	0.502000													28	89					1.45844e-13	1.99996e-13	0.013726	1	0
SNHG14	104472715	broad.mit.edu	37	15	25420002	25420002	+	RNA	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:25420002C>T	ENST00000549301.1	+	0	737				SNHG14_ENST00000441592.2_RNA																							acaCTGGTCTCTTCCACTGAG	0.517000													25	114					0	0	0.018920	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121682660	121682660	+	Splice_Site	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:121682660A>C	ENST00000393386.2	+	22	6212		c.e22-1		PTPRZ1_ENST00000449182.1_Splice_Site	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.?(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTTCTCTTCAGTGCTGGAGT	0.333000													6	36					0	0	0.021553	0	0
COLEC11	78989	broad.mit.edu	37	2	3673659	3673659	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:3673659C>T	ENST00000236693.7	+	4	404	c.170C>T	c.(169-171)tCc>tTc	p.S57F	COLEC11_ENST00000403096.3_Intron|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000418971.2_Intron|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000349077.4_Intron	NM_199235.2	NP_954705.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	0						collagen	mannose binding	p.S57F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGCACCTCGTCCTTTGTAGAA	0.463000													76	181					0	0	0.014410	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44806806	44806806	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:44806806G>C	ENST00000260327.4	+	9	1543	c.980G>C	c.(979-981)aGa>aCa	p.R327T	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.R327T|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.R255T|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.R255T	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	327	FCP1 homology.						phosphoprotein phosphatase activity	p.R327T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GTTTATGTGAGATTAAGACCA	0.294000													14	40					0	0	0.033300	0	0
ALPI	248	broad.mit.edu	37	2	233322813	233322813	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:233322813A>G	ENST00000295463.3	+	8	1039	c.962A>G	c.(961-963)aAc>aGc	p.N321S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	321					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.N321S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGAGCAGGAACCCCCGCGGC	0.647000													10	43					0	0	0.006122	0	0
PRPF19	27339	broad.mit.edu	37	11	60658726	60658726	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:60658726C>T	ENST00000227524.4	-	16	1632	c.1427G>A	c.(1426-1428)gGc>gAc	p.G476D		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	476					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.G476D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGTGGTCAGGCCGCTATGCTC	0.522000													11	39					0	0	0.008291	0	0
CASP14	23581	broad.mit.edu	37	19	15164396	15164396	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:15164396G>A	ENST00000427043.3	+	3	439	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	CASP14_ENST00000221740.1_Missense_Mutation_p.R44Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	44					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R44Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACATGTTTCGGCAGCTGAGA	0.527000													25	103					0	0	0.037714	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412521	105412521	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:105412521G>T	ENST00000333244.5	-	7	9386	c.9267C>A	c.(9265-9267)gaC>gaA	p.D3089E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3089						nucleus		p.D3089D(1)|p.D3089E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTTTCAGGTCCAGCTTGG	0.612000													11	120					3.8784e-16	5.57735e-16	0.012319	1	0
RAB9B	51209	broad.mit.edu	37	X	103080712	103080712	+	Translation_Start_Site	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:103080712C>A	ENST00000243298.2	-	3	287	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	1					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	p.M1I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						ATTTCCCACTCATTTTTGCAG	0.413000													34	181					2.19358e-23	3.34701e-23	0.023175	1	0
EPB41L3	23136	broad.mit.edu	37	18	5419763	5419763	+	Translation_Start_Site	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:5419763G>A	ENST00000542146.1	-	0	37				EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503W|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_De_novo_Start_OutOfFrame|EPB41L3_ENST00000341928.2_Missense_Mutation_p.R485W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503W|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503W			Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R485W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						cccttcctccgtttgtcctct	0.557000													4	86					0	0	0.014758	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728561	20728561	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:20728561A>C	ENST00000427401.4	-	4	542	c.448T>G	c.(448-450)Tat>Gat	p.Y150D		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	150					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Y149D(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACTTTCACATATTTATCACAC	0.299000													6	26					0	0	0.029380	0	0
CHRM4	1132	broad.mit.edu	37	11	46407047	46407047	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:46407047A>T	ENST00000433765.2	-	1	1060	c.1061T>A	c.(1060-1062)gTg>gAg	p.V354E		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	354					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.V354E(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	AATGGCTGTCACACACTCATT	0.657000													24	134					0	0	0.037714	0	0
MARCH6	10299	broad.mit.edu	37	5	10411648	10411648	+	Splice_Site	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:10411648G>A	ENST00000274140.5	+	19	2027	c.1896_splice	c.e19+1	p.R632_splice	MARCH6_ENST00000449913.2_Splice_Site_p.R584_splice|MARCH6_ENST00000503788.1_Splice_Site_p.R527_splice|MARCH6_ENST00000510792.1_Splice_Site_p.R330_splice	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	632					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.R632K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTCCACTCAGGGTAGGTGCT	0.463000													10	38					0	0	0.016723	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561797	55561797	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:55561797C>A	ENST00000436346.1	-	15	3001	c.2160G>T	c.(2158-2160)atG>atT	p.M720I	CCDC88A_ENST00000336838.6_Missense_Mutation_p.M720I|CCDC88A_ENST00000413716.2_Missense_Mutation_p.M720I|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.M720I|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	720					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.M720I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTAGCTGAGCCATTTTCATGC	0.388000													22	61					2.39556e-15	3.39982e-15	0.016522	1	0
CNOT6	57472	broad.mit.edu	37	5	179996154	179996154	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:179996154G>T	ENST00000393356.1	+	12	1496	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	CNOT6_ENST00000261951.4_Missense_Mutation_p.A358S			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	358					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	p.A358S(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TATTCTTGTGGCTAACGCCCA	0.413000													14	80					2.32078e-09	2.90098e-09	0.024245	1	0
DBF4B	80174	broad.mit.edu	37	17	42825784	42825784	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:42825784C>T	ENST00000315005.3	+	13	1278	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	DBF4B_ENST00000393547.2_Silent_p.P380P	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	380					cell cycle	nucleus	nucleic acid binding|zinc ion binding	p.P380P(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCCCATCCCAGGGCAGCAT	0.582000													30	160					0	0	0.012213	0	0
ENTPD6	955	broad.mit.edu	37	20	25199194	25199194	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:25199194G>T	ENST00000360031.2	+	10	1066	c.884G>T	c.(883-885)gGg>gTg	p.G295V	ENTPD6_ENST00000354989.5_Missense_Mutation_p.G279V|ENTPD6_ENST00000433259.2_Missense_Mutation_p.G296V|ENTPD6_ENST00000376652.4_Missense_Mutation_p.G296V	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	296						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.G296V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						AGCTACCTCGGGCTCGGGCTG	0.667000													5	6					3.59834e-05	4.03262e-05	0.021553	1	0
CUBN	8029	broad.mit.edu	37	10	16970156	16970156	+	Splice_Site	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:16970156T>C	ENST00000377833.4	-	41	6336	c.6271_splice	c.e41+1	p.S2091_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2091	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.S2091G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACTCATTACTCTTGTGAAAG	0.448000													3	86					0	0	0.004672	0	0
MET	4233	broad.mit.edu	37	7	116339807	116339807	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:116339807A>G	ENST00000397752.3	+	2	869	c.669A>G	c.(667-669)aaA>aaG	p.K223K	MET_ENST00000318493.6_Silent_p.K223K|MET_ENST00000436117.2_Silent_p.K223K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	223	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.K223K(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGGAAACGAAAGATGGTTTTA	0.383000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				8	279					0	0	0.003080	0	0
GABRA6	2559	broad.mit.edu	37	5	161128675	161128675	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:161128675T>G	ENST00000523217.1	+	9	1470	c.1228T>G	c.(1228-1230)Tat>Gat	p.Y410D	GABRA6_ENST00000274545.5_Missense_Mutation_p.Y420D	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	420					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.Y420D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATAGACCAGTATTCTCGAAT	0.468000										TCGA Ovarian(5;0.080)			40	44					0	0	0.033182	0	0
HUWE1	10075	broad.mit.edu	37	X	53607798	53607798	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:53607798T>A	ENST00000342160.3	-	42	6166	c.5709A>T	c.(5707-5709)tcA>tcT	p.S1903S	HUWE1_ENST00000262854.6_Silent_p.S1903S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1903					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.S1766S(1)|p.S1903S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCAGTTCCTGAGCCTCGAG	0.498000													13	51					0	0	0.016723	0	0
COL3A1	1281	broad.mit.edu	37	2	189873816	189873816	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:189873816C>A	ENST00000304636.3	+	48	3862	c.3692C>A	c.(3691-3693)aCc>aAc	p.T1231N	COL3A1_ENST00000317840.5_Missense_Mutation_p.T928N	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1231					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.T1231N(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAATCAACACCGATGAGATT	0.458000													36	147					4.00102e-26	6.28179e-26	0.025465	1	0
VGLL1	51442	broad.mit.edu	37	X	135630900	135630900	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:135630900G>T	ENST00000370634.3	+	3	537	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.A123S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GGCTAGGAGGGCCTCTGTTCG	0.607000													87	362					1.19347e-43	2.05226e-43	0.014410	1	0
ZBTB18	10472	broad.mit.edu	37	1	244217323	244217323	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:244217323G>T	ENST00000358704.4	+	2	396	c.247G>T	c.(247-249)Gct>Tct	p.A83S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.A74S(1)									TACAGCCCCCGCTTTCGCTCT	0.463000													91	70					8.26238e-36	1.37004e-35	0.014410	1	0
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:63477091G>T	ENST00000536984.2	+	3	1056	c.362G>T	c.(361-363)cGa>cTa	p.R121L	CDH7_ENST00000397968.2_Missense_Mutation_p.R121L|CDH7_ENST00000323011.3_Missense_Mutation_p.R121L			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R121L(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493000													8	65					0.00307968	0.00330329	0.003080	1	0
TCEAL3	85012	broad.mit.edu	37	X	102864328	102864328	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:102864328A>G	ENST00000372628.1	+	3	694	c.336A>G	c.(334-336)agA>agG	p.R112R	TCEAL3_ENST00000243286.3_Silent_p.R112R|TCEAL3_ENST00000372627.5_Silent_p.R112R|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R112R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AAGCAAAAAGAAAAACGGACA	0.582000													41	194					0	0	0.033182	0	0
CNDP1	84735	broad.mit.edu	37	18	72228242	72228242	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:72228242C>T	ENST00000582365.1	+	3	392	c.326C>T	c.(325-327)aCg>aTg	p.T109M	CNDP1_ENST00000358821.3_Missense_Mutation_p.T152M|CNDP1_ENST00000585136.1_Intron			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	152					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.T152M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TATGTGCTGACGGAGGTAGAC	0.627000													37	56					0	0	0.017118	0	0
NHSL2	340527	broad.mit.edu	37	X	71359765	71359765	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:71359765C>T	ENST00000373677.1	+	2	2531	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S	NHSL2_ENST00000535692.1_Silent_p.S423S|NHSL2_ENST00000510661.1_Silent_p.S558S|NHSL2_ENST00000540800.1_Silent_p.S789S			F5H593	F5H593_HUMAN	NHS-like 2	789								p.S420S(1)|p.S789S(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TGAGTATCTCCATCCGAAGCA	0.502000													6	67					0	0	0.029380	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354055	17354055	+	RNA	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:17354055C>A	ENST00000511821.1	+	0	37				FTH1P10_ENST00000401830.3_RNA																							TTCGGGTGCTCCCATCTTGCA	0.483000													6	54					0.00829132	0.00877745	0.008291	1	0
DIP2C	22982	broad.mit.edu	37	10	395293	395293	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:395293G>A	ENST00000280886.6	-	25	3174	c.3087C>T	c.(3085-3087)caC>caT	p.H1029H		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1029						nucleus	catalytic activity|transcription factor binding	p.H1029H(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAAGGCCACGTGGTCGCCGT	0.647000													25	23					0	0	0.030593	0	0
JUP	3728	broad.mit.edu	37	17	39778677	39778677	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:39778677C>A	ENST00000540235.1	-	6	1078	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	KRT17_ENST00000311208.8_Missense_Mutation_p.R201I			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	p.R201I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CAGGTCGGCTCTGGCCAGGGT	0.602000													74	124					1.15773e-35	1.90031e-35	0.014410	1	0
XKR7	343702	broad.mit.edu	37	20	30584719	30584719	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:30584719G>A	ENST00000217299.3	+	3	1373	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	400						integral to membrane		p.G400D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGCTCACCGGCTTCTGGTAC	0.582000													13	68					0	0	0.013537	0	0
SLC24A2	25769	broad.mit.edu	37	9	19550264	19550264	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:19550264G>T	ENST00000341998.2	-	7	1411	c.1350C>A	c.(1348-1350)acC>acA	p.T450T	SLC24A2_ENST00000286344.3_Silent_p.T433T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	450					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.T450T(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CCTCATCAGCGGTCTGTGGTA	0.453000													16	93					1.5739e-10	2.02983e-10	0.028581	1	0
ZNF804A	91752	broad.mit.edu	37	2	185798422	185798422	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:185798422C>A	ENST00000302277.6	+	3	942	c.348C>A	c.(346-348)cgC>cgA	p.R116R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116						intracellular	zinc ion binding	p.R116R(1)		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						CACTCCAACGCCTGCACAAGC	0.403000													7	34					0.00198382	0.0021349	0.029380	1	0
LAMA5	3911	broad.mit.edu	37	20	60927018	60927018	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:60927018G>T	ENST00000252999.3	-	5	871	c.805C>A	c.(805-807)Ctg>Atg	p.L269M	LAMA5_ENST00000370692.3_Missense_Mutation_p.L269M|LAMA5_ENST00000370677.3_Missense_Mutation_p.L269M	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	269	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L269M(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCCCAGCAGCGTGTTGGTA	0.687000													19	7					5.45024e-15	7.66809e-15	0.018920	1	0
OR4S1	256148	broad.mit.edu	37	11	48328454	48328454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:48328454C>A	ENST00000319988.1	+	1	680	c.680C>A	c.(679-681)tCa>tAa	p.S227*		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S227*(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AGAAGCCAGTCATCTGAGGAC	0.468000													52	201					1.13205e-32	1.83957e-32	0.014410	1	0
ZNF419	79744	broad.mit.edu	37	19	58005275	58005275	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:58005275T>G	ENST00000424930.2	+	5	1582	c.1353T>G	c.(1351-1353)atT>atG	p.I451M	ZNF419_ENST00000426954.2_Missense_Mutation_p.I438M|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.I418M|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Missense_Mutation_p.I450M|ZNF419_ENST00000442920.2_Missense_Mutation_p.I437M|ZNF419_ENST00000415379.2_Missense_Mutation_p.I404M	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I425M(1)|p.I418M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AAGTTCACATTGGAGAAAAGC	0.428000													3	175					0	0	0.009096	0	0
MYRF	745	broad.mit.edu	37	11	61544847	61544847	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:61544847G>T	ENST00000278836.5	+	12	1798	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	MYRF_ENST00000327797.1_Missense_Mutation_p.D193Y|MYRF_ENST00000265460.5_Missense_Mutation_p.D559Y|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor									p.D559Y(1)									AGACCGGCCGGATGAGGCGCT	0.652000													16	50					7.07758e-08	8.58289e-08	0.024334	1	0
GATA3	2625	broad.mit.edu	37	10	8111435	8111435	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:8111435G>T	ENST00000379328.3	+	5	1492		c.e5-1		GATA3_ENST00000461472.1_Splice_Site|GATA3_ENST00000346208.3_Splice_Site	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3						aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.?(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCACTCTCAGTCTGCAGCCA	0.483000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						8	85					5.18039e-06	5.92826e-06	0.003080	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44023920	44023920	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:44023920G>C	ENST00000260605.8	+	8	740	c.640G>C	c.(640-642)Gga>Cga	p.G214R	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.G215R|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.G88R	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	214						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	p.G214L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACATTATTATGGAGCATCATT	0.358000													16	44					0	0	0.028581	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													6	102					0	0	0.004482	0	0
PPWD1	23398	broad.mit.edu	37	5	64875260	64875260	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:64875260G>A	ENST00000261308.5	+	7	1242	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	PPWD1_ENST00000535264.1_Silent_p.R360R|PPWD1_ENST00000538977.1_Silent_p.R234R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	390					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.R390R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GGTGTGTGCGGATTTTAGGCA	0.348000													5	41					0	0	0.029380	0	0
ATRX	546	broad.mit.edu	37	X	76845335	76845335	+	Silent	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:76845335T>A	ENST00000373344.5	-	27	6400	c.6186A>T	c.(6184-6186)acA>acT	p.T2062T	ATRX_ENST00000395603.3_Silent_p.T2024T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2062	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.T2062T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTTATCTTCTGTCTTCTCCC	0.308000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	25					0	0	0.007413	0	0
CENPI	2491	broad.mit.edu	37	X	100403113	100403113	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:100403113C>A	ENST00000372927.1	+	19	2334	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H	CENPI_ENST00000218507.5_Missense_Mutation_p.P686H|CENPI_ENST00000423383.1_Missense_Mutation_p.P686H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	686					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.P686N(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GTCCATCATCCTTCTTTCTTG	0.348000													32	153					4.11147e-13	5.56762e-13	0.017118	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720308	140720308	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140720308G>T	ENST00000394576.2	+	1	1770	c.1770G>T	c.(1768-1770)aaG>aaT	p.K590N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.K590N(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCAAGGTGGTGGCGG	0.672000													45	95					7.77092e-38	1.30857e-37	0.014410	1	0
EHF	26298	broad.mit.edu	37	11	34668199	34668199	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:34668199T>C	ENST00000257831.3	+	3	432	c.311T>C	c.(310-312)cTc>cCc	p.L104P	EHF_ENST00000530286.1_Missense_Mutation_p.L104P|EHF_ENST00000450654.2_Missense_Mutation_p.L104P|EHF_ENST00000527935.1_Missense_Mutation_p.L104P|EHF_ENST00000531728.1_Missense_Mutation_p.L104P|EHF_ENST00000533754.1_Missense_Mutation_p.L104P|EHF_ENST00000531794.1_Missense_Mutation_p.L126P	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	104	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L104P(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGGCAGCTCCTCTACAGCAAC	0.552000													60	138					0	0	0.014410	0	0
CNTN5	53942	broad.mit.edu	37	11	100211835	100211835	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:100211835A>C	ENST00000524871.1	+	23	3218	c.2928A>C	c.(2926-2928)caA>caC	p.Q976H	CNTN5_ENST00000279463.3_Missense_Mutation_p.Q976H|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q976H|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q902H|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	976	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Q976H(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCCTAGTCAAGCACCTAGCA	0.423000													5	96					0	0	0.014758	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	10					1.08611e-07	1.30735e-07	0.010729	1	0
OR56A4	120793	broad.mit.edu	37	11	6023636	6023636	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:6023636G>A	ENST00000330728.4	-	1	788	c.743C>T	c.(742-744)aCt>aTt	p.T248I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T248I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATTGAAAGTGATGTCATC	0.428000													14	22					0	0	0.016522	0	0
AFAP1	60312	broad.mit.edu	37	4	7857263	7857263	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:7857263G>A	ENST00000420658.1	-	4	536	c.264C>T	c.(262-264)tcC>tcT	p.S88S	AFAP1_ENST00000360265.4_Silent_p.S88S|AFAP1_ENST00000382543.3_Silent_p.S88S|AFAP1_ENST00000358461.2_Silent_p.S88S	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	88	Pro-rich.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	p.S88S(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCTGGGAGGGAGGATGTTG	0.517000													8	56					0	0	0.010729	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695419	153695419	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:153695419G>C	ENST00000369682.3	+	18	3302	c.3127G>C	c.(3127-3129)Gtg>Ctg	p.V1043L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1043	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.V1043L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCATCACTGTGAGTGGGAC	0.662000													18	104					0	0	0.007413	0	0
PTCH1	5727	broad.mit.edu	37	9	98209232	98209232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:98209232C>A	ENST00000430669.2	-	23	4693	c.4108G>T	c.(4108-4110)Gaa>Taa	p.E1370*	PTCH1_ENST00000331920.6_Nonsense_Mutation_p.E1436*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E1370*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E1285*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E1285*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E1435*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E1285*			Q13635	PTC1_HUMAN	patched 1	1436					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.E1435*(2)|p.E1436*(1)|p.V1435V(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCTCGCATTCCACGTCCTGC	0.602000													52	84					1.57914e-17	2.30144e-17	0.014410	1	0
FMNL3	91010	broad.mit.edu	37	12	50045755	50045755	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:50045755G>A	ENST00000335154.5	-	14	1797	c.1564C>T	c.(1564-1566)Cca>Tca	p.P522S	FMNL3_ENST00000293590.5_Missense_Mutation_p.P522S|FMNL3_ENST00000550488.1_Missense_Mutation_p.P522S|FMNL3_ENST00000352151.5_Missense_Mutation_p.P471S	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	522	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.P522S(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GGCGGAGCTGGTGGTGGAGGA	0.647000													4	17					0	0	0.014758	0	0
OR2T11	127077	broad.mit.edu	37	1	248790027	248790027	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:248790027G>A	ENST00000330803.2	-	1	464	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R135C(2)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			CACTTCTTGCGGTTCATCAGG	0.547000													5	79					0	0	0.014758	0	0
IGSF3	3321	broad.mit.edu	37	1	117150688	117150688	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:117150688G>T	ENST00000369486.3	-	5	1863	c.1098C>A	c.(1096-1098)ctC>ctA	p.L366L	IGSF3_ENST00000369483.1_Silent_p.L366L|IGSF3_ENST00000318837.6_Silent_p.L366L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	366	Ig-like C2-type 3.					integral to membrane		p.L366L(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTTCCTGGCGGAGGTGGTAGA	0.537000													8	138					5.35267e-07	6.30296e-07	0.007413	1	0
BRWD3	254065	broad.mit.edu	37	X	79939515	79939515	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:79939515C>A	ENST00000373275.4	-	37	4443	c.4227G>T	c.(4225-4227)aaG>aaT	p.K1409N	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1409	Bromo 2.							p.K1409N(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATACCCTTGACTTTTTATTAG	0.338000													13	28					1.5842e-08	1.95766e-08	0.016723	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	RNA	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343000													6	23					0	0	0.021553	0	0
KMT2E	55904	broad.mit.edu	37	7	104745898	104745898	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:104745898G>C	ENST00000334877.4	+	18	2743	c.2209G>C	c.(2209-2211)Gaa>Caa	p.E737Q	KMT2E_ENST00000311117.3_Missense_Mutation_p.E737Q|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.E737Q					lysine (K)-specific methyltransferase 2E									p.E737Q(1)									CTTGGTTAATGAATGGTTAAG	0.348000													3	101					0	0	0.009096	0	0
MLLT10	8028	broad.mit.edu	37	10	22022812	22022812	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:22022812A>G	ENST00000377072.3	+	21	3008	c.2660A>G	c.(2659-2661)aAt>aGt	p.N887S	MLLT10_ENST00000307729.7_Missense_Mutation_p.N871S|MLLT10_ENST00000377059.3_Missense_Mutation_p.N871S|MLLT10_ENST00000446906.2_Missense_Mutation_p.N871S	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	887					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N871S(1)|p.N887S(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAGCAGGTCAATGGCGTGACA	0.557000			T	"""MLL, PICALM, CDK6"""	AL								31	42					0	0	0.037714	0	0
DNAH11	8701	broad.mit.edu	37	7	21745109	21745109	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:21745109G>T	ENST00000328843.6	+	40	6552	c.6521G>T	c.(6520-6522)cGg>cTg	p.R2174L	DNAH11_ENST00000409508.3_Missense_Mutation_p.R2167L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2174	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2174L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGGCTGTGCGGCACTCGGTC	0.423000									Kartagener syndrome				6	45					0.00621372	0.00662117	0.006214	1	0
LRP1B	53353	broad.mit.edu	37	2	141986802	141986802	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:141986802G>T	ENST00000389484.3	-	6	1771	c.800C>A	c.(799-801)gCa>gAa	p.A267E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	267					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A267E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATCCTCCTGCTTTTGTTAT	0.294000										TSP Lung(27;0.18)			12	67					2.80697e-09	3.48193e-09	0.010729	1	0
KIF27	55582	broad.mit.edu	37	9	86503413	86503413	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:86503413C>G	ENST00000297814.2	-	8	2217	c.2074G>C	c.(2074-2076)Gag>Cag	p.E692Q	KIF27_ENST00000376347.1_Missense_Mutation_p.E83Q|KIF27_ENST00000334204.2_Missense_Mutation_p.E692Q|KIF27_ENST00000413982.1_Missense_Mutation_p.E692Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	692					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E692Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CCTTCATTCTCCAAATCTGAC	0.343000													18	30					0	0	0.006122	0	0
BRWD3	254065	broad.mit.edu	37	X	79932535	79932535	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:79932535C>G	ENST00000373275.4	-	41	5198	c.4982G>C	c.(4981-4983)gGa>gCa	p.G1661A		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1661	Gly-rich.							p.G1661A(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTTCTTTTTCCATTGCCATG	0.458000													15	341					0	0	0.007413	0	0
SKI	6497	broad.mit.edu	37	1	2234776	2234776	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:2234776C>T	ENST00000378536.4	+	3	1220	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	383					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S383F(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGACCCTGGTCCCCCGCAGTG	0.597000													81	181					0	0	0.014410	0	0
NSDHL	50814	broad.mit.edu	37	X	152034484	152034484	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:152034484G>T	ENST00000370274.3	+	6	859	c.665G>T	c.(664-666)gGc>gTc	p.G222V	NSDHL_ENST00000440023.1_Missense_Mutation_p.G222V	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	222					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.G222V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCCAGGAACGGCAAGATGAAG	0.567000													21	203					5.35356e-11	7.01575e-11	0.016522	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44023921	44023921	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:44023921G>T	ENST00000260605.8	+	8	741	c.641G>T	c.(640-642)gGa>gTa	p.G214V	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.G215V|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.G88V	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	214						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	p.G214L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATTATTATGGAGCATCATTA	0.353000													15	44					1.52009e-12	2.03304e-12	0.024245	1	0
OR2G3	81469	broad.mit.edu	37	1	247769097	247769097	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:247769097C>A	ENST00000320002.2	+	1	242	c.210C>A	c.(208-210)gaC>gaA	p.D70E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTTTACTGGACATCTGCTTCA	0.438000													117	503					2.21805e-50	3.83439e-50	0.014410	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635134	122635134	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:122635134C>T	ENST00000249284.2	-	1	620	c.555G>A	c.(553-555)ttG>ttA	p.L185L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	185					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.L185L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGGAATAACCAATGCAACTG	0.433000													9	119					0	0	0.004482	0	0
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582000													3	47					0	0	0.004672	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888618	159888618	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:159888618C>A	ENST00000368097.4	-	5	882	c.572G>T	c.(571-573)gGc>gTc	p.G191V	TAGLN2_ENST00000368096.1_Missense_Mutation_p.G212V|TAGLN2_ENST00000320307.4_Missense_Mutation_p.G191V|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	191					muscle organ development	nuclear membrane|plasma membrane	protein binding	p.G191F(1)		endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCCCGTAGCCAGTCATGCC	0.542000													55	132					1.74971e-23	2.68234e-23	0.014410	1	0
NLRP5	126206	broad.mit.edu	37	19	56539603	56539603	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:56539603G>T	ENST00000390649.3	+	7	2004	c.2004G>T	c.(2002-2004)tgG>tgT	p.W668C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	668						mitochondrion|nucleolus	ATP binding	p.W668C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCTGCACTGGGTCTCTCTGT	0.572000													35	48					9.8876e-21	1.46067e-20	0.021022	1	0
GRM1	2911	broad.mit.edu	37	6	146673535	146673535	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:146673535G>T	ENST00000392299.2	+	5	1806	c.1336G>T	c.(1336-1338)Gac>Tac	p.D446Y	GRM1_ENST00000282753.1_Missense_Mutation_p.D446Y|GRM1_ENST00000355289.4_Missense_Mutation_p.D446Y|GRM1_ENST00000507907.1_Missense_Mutation_p.D446Y|GRM1_ENST00000361719.2_Missense_Mutation_p.D446Y|GRM1_ENST00000492807.2_Missense_Mutation_p.D446Y			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	446					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.D446Y(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAAGCCCATCGACGGCAGCAA	0.552000													66	128					2.72615e-36	4.54359e-36	0.014410	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092363	151092363	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:151092363T>A	ENST00000360243.2	+	3	494	c.227T>A	c.(226-228)aTc>aAc	p.I76N	MAGEA4_ENST00000393920.1_Missense_Mutation_p.I76N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.I76N|MAGEA4_ENST00000370337.4_Missense_Mutation_p.I76N|MAGEA4_ENST00000393921.1_Missense_Mutation_p.I76N|MAGEA4_ENST00000370340.3_Missense_Mutation_p.I76N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.I76N	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	76							protein binding	p.I76N(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACTACCATCAGCTTCACT	0.607000													28	116					0	0	0.010818	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186823505	186823505	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:186823505T>A	ENST00000367466.3	+	2	171	c.19T>A	c.(19-21)Tac>Aac	p.Y7N	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.Y7N|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	7	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.Y7N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TATAGATCCTTACCAGCACAT	0.348000													6	45					0	0	0.029380	0	0
ADORA1	134	broad.mit.edu	37	1	203134690	203134690	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:203134690G>C	ENST00000367236.4	+	3	1564	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.V215L|ADORA1_ENST00000309502.3_Missense_Mutation_p.V215L	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	215					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.V215L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAACAAGAAGGTGTCGGCCTC	0.567000													26	178					0	0	0.012213	0	0
SYT13	57586	broad.mit.edu	37	11	45307669	45307669	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:45307669A>G	ENST00000020926.3	-	1	201	c.90T>C	c.(88-90)tgT>tgC	p.C30C		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	30						transport vesicle		p.C30C(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCATGTGCCGACACAGGCAGG	0.687000													5	11					0	0	0.029380	0	0
AFF2	2334	broad.mit.edu	37	X	148048333	148048333	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:148048333C>A	ENST00000370460.2	+	14	3406	c.2927C>A	c.(2926-2928)cCa>cAa	p.P976Q	AFF2_ENST00000342251.3_Missense_Mutation_p.P943Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P941Q|AFF2_ENST00000286437.5_Missense_Mutation_p.P617Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	976					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P976Q(2)|p.P617Q(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGACACTCCAAAAAAGGCA	0.453000													37	141					1.52319e-26	2.41481e-26	0.033182	1	0
STAU1	6780	broad.mit.edu	37	20	47770537	47770537	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:47770537C>A	ENST00000371828.3	-	4	521	c.34G>T	c.(34-36)Gtt>Ttt	p.V12F	STAU1_ENST00000340954.7_Missense_Mutation_p.V12F|STAU1_ENST00000360426.4_Missense_Mutation_p.V12F|STAU1_ENST00000371802.1_Missense_Mutation_p.V12F|STAU1_ENST00000371792.1_Missense_Mutation_p.V12F|STAU1_ENST00000347458.5_Missense_Mutation_p.V12F|STAU1_ENST00000371856.2_Missense_Mutation_p.V93F	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	93						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	p.V93F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TAAGGGTCAACAGGCTTATAC	0.378000													83	61					2.84431e-33	4.64523e-33	0.014410	1	0
FLG	2312	broad.mit.edu	37	1	152286049	152286049	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:152286049G>A	ENST00000368799.1	-	3	1348	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	438	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S438L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGGCCTGACACTGATTG	0.587000									Ichthyosis				128	403					0	0	0.014410	0	0
TIAM1	7074	broad.mit.edu	37	21	32638630	32638630	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:32638630G>T	ENST00000286827.3	-	5	1130	c.659C>A	c.(658-660)cCg>cAg	p.P220Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.P220Q|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	220					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.P220Q(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAGCTGCCGCGGACTCGCCCG	0.552000													44	49					1.17253e-29	1.8772e-29	0.014410	1	0
PTPRS	5802	broad.mit.edu	37	19	5210581	5210581	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:5210581C>A	ENST00000372412.4	-	35	5622	c.5389G>T	c.(5389-5391)Gcc>Tcc	p.A1797S	PTPRS_ENST00000357368.4_Missense_Mutation_p.A1796S|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1758S|PTPRS_ENST00000592099.1_Missense_Mutation_p.A1349S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.A1349S|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1758S|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1796S|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1776S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1796	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1796S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GAGCGCTCGGCCGGCCAGTAC	0.607000													12	46					1.15088e-07	1.3802e-07	0.028581	1	0
CSMD3	114788	broad.mit.edu	37	8	113651094	113651094	+	Silent	SNP	G	G	A	rs145905619		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:113651094G>A	ENST00000297405.5	-	21	3601	c.3357C>T	c.(3355-3357)gaC>gaT	p.D1119D	CSMD3_ENST00000352409.3_Silent_p.D1119D|CSMD3_ENST00000343508.3_Silent_p.D1079D|CSMD3_ENST00000455883.2_Silent_p.D1015D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1119	CUB 6.					integral to membrane|plasma membrane		p.D1119D(1)|p.D1079D(1)		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						TCAGTAAGTAGTCATGATGGT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	41					0	0	0.028581	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676384	20676384	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:20676384G>A	ENST00000525748.1	+	16	2637	c.2364G>A	c.(2362-2364)gtG>gtA	p.V788V	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	788					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AACTGCCAGTGAAGGATTTGG	0.532000													5	213					0	0	0.003080	0	0
ADD2	119	broad.mit.edu	37	2	70906031	70906031	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:70906031A>T	ENST00000264436.3	-	11	1632	c.1188T>A	c.(1186-1188)agT>agA	p.S396R	ADD2_ENST00000355733.3_Missense_Mutation_p.S396R|ADD2_ENST00000413157.2_Missense_Mutation_p.S396R|ADD2_ENST00000407644.2_Missense_Mutation_p.S396R|ADD2_ENST00000430656.1_Missense_Mutation_p.S412R	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	396					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.S396R(2)|p.S412R(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCTCCACCTCACTTTTGTGTT	0.527000													28	111					0	0	0.037714	0	0
INHBA	3624	broad.mit.edu	37	7	41739733	41739733	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr7:41739733C>T	ENST00000242208.4	-	2	486	c.240G>A	c.(238-240)aaG>aaA	p.K80K	INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Silent_p.K80K|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	80					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K80K(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAAGCGCCGCCTTGGGTACCG	0.527000										TSP Lung(11;0.080)			9	745					0	0	0.016723	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841526	130841526	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:130841526G>T	ENST00000245255.3	+	13	1740	c.1468G>T	c.(1468-1470)Gtt>Ttt	p.V490F		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	490					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.V490F(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTAATTAGTGTTAAGCCACT	0.368000													18	80					1.00905e-13	1.38958e-13	0.008871	1	0
KANK4	163782	broad.mit.edu	37	1	62740219	62740219	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:62740219G>T	ENST00000371153.4	-	3	935	c.557C>A	c.(556-558)gCc>gAc	p.A186D	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	186	Pro-rich.							p.A186D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGCAGGAGGGGCAGGGGGCCC	0.647000													15	22					5.03518e-11	6.62524e-11	0.007413	1	0
SEC14L1	6397	broad.mit.edu	37	17	75187325	75187325	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:75187325T>C	ENST00000413679.2	+	5	579	c.276T>C	c.(274-276)acT>acC	p.T92T	SEC14L1_ENST00000443798.4_Silent_p.T92T|SEC14L1_ENST00000436233.4_Silent_p.T92T|SEC14L1_ENST00000585618.1_Silent_p.T92T|SEC14L1_ENST00000591437.1_Silent_p.T58T|SEC14L1_ENST00000430767.4_Silent_p.T92T|SEC14L1_ENST00000392476.2_Silent_p.T92T|SEC14L1_ENST00000431431.2_Silent_p.T58T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	92	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding	p.T92T(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGAACGTACTTTGCACATTG	0.368000													4	251					0	0	0.009096	0	0
C2CD2	25966	broad.mit.edu	37	21	43319393	43319393	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:43319393C>A	ENST00000380486.3	-	13	1880	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	C2CD2_ENST00000329623.7_Missense_Mutation_p.A392S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	547						cytosol|extracellular region|nucleus		p.A547S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGGGATGGGGCGTCCTCCTGG	0.667000													12	20					1.67942e-08	2.06746e-08	0.006122	1	0
CNR2	1269	broad.mit.edu	37	1	24201958	24201958	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:24201958C>T	ENST00000536471.1	-	3	408	c.150G>A	c.(148-150)gaG>gaA	p.E50E	CNR2_ENST00000374472.4_Silent_p.E50E			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	50					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	p.E50E(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557000													8	83					0	0	0.010729	0	0
SVEP1	79987	broad.mit.edu	37	9	113265485	113265485	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:113265485G>A	ENST00000401783.2	-	6	1652	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.P416L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P416L|SVEP1_ENST00000302728.8_Missense_Mutation_p.P439L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	439	Sushi 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P439L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCGGAGATGAGGACATGTTCT	0.368000													9	73					0	0	0.004482	0	0
ZNF248	57209	broad.mit.edu	37	10	38120629	38120629	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:38120629C>A	ENST00000395867.3	-	6	2204	c.1654G>T	c.(1654-1656)Gca>Tca	p.A552S	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.A552S	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A552S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCCCACATGCATTACACTCA	0.428000													28	29					1.90571e-15	2.71647e-15	0.019004	1	0
TPH1	7166	broad.mit.edu	37	11	18044391	18044391	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:18044391C>T	ENST00000250018.2	-	9	1676	c.1114G>A	c.(1114-1116)Gtc>Atc	p.V372I	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Missense_Mutation_p.V372I|TPH1_ENST00000525406.1_5'UTR	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	372					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.V372I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACAAAGTAGACATCTTGAAAA	0.403000													18	29					0	0	0.033300	0	0
C20orf26	26074	broad.mit.edu	37	20	20246079	20246079	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr20:20246079T>G	ENST00000389656.3	+	22	2638	c.592T>G	c.(592-594)Tta>Gta	p.L198V	RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000245957.5_Intron|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000377293.1_Missense_Mutation_p.L198V			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	0										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGCATCAGTGTTATTCTGCTG	0.463000													35	648					0	0	0.023175	0	0
RHOXF1	158800	broad.mit.edu	37	X	119249586	119249586	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:119249586C>A	ENST00000217999.2	-	1	261	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	63					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D63Y(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						ATGCCGCCATCGCGGTTCATG	0.672000													26	49					4.00102e-26	6.28179e-26	0.025465	1	0
CCDC170	80129	broad.mit.edu	37	6	151869438	151869438	+	Splice_Site	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:151869438G>T	ENST00000367290.5	+	5	677		c.e5-1		CCDC170_ENST00000239374.7_Splice_Site			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170									p.?(1)									TTTCTCTTCAGCTTAGAGACC	0.338000													20	35					6.44725e-10	8.18499e-10	0.014323	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573632	140573632	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140573632C>A	ENST00000239446.4	+	1	1691	c.1507C>A	c.(1507-1509)Ctg>Atg	p.L503M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		503	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L503M(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGCCTCCCTGGTCTCCAT	0.682000													8	163					3.09899e-07	3.6758e-07	0.004482	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	39					0	0	0.004672	0	0
IQCD	115811	broad.mit.edu	37	12	113645421	113645421	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:113645421A>G	ENST00000546692.1	-	2	924	c.551T>C	c.(550-552)aTt>aCt	p.I184T	IQCD_ENST00000416617.2_Missense_Mutation_p.I184T|IQCD_ENST00000299732.2_Missense_Mutation_p.I184T			Q96DY2	IQCD_HUMAN	IQ motif containing D	184								p.I184T(1)		endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CAGGCTGTCAATAAAATTCTG	0.498000													3	132					0	0	0.004672	0	0
JAK1	3716	broad.mit.edu	37	1	65307190	65307190	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:65307190T>G	ENST00000342505.4	-	18	2746	c.2498A>C	c.(2497-2499)aAt>aCt	p.N833T	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	833	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.N833T(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGGCCTCTGATTGGGGTCATA	0.493000			Mis		ALL								5	181					0	0	0.014758	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491954	20491954	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:20491954G>A	ENST00000573854.1	+	11	1455	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	ACSM2A_ENST00000536134.1_Silent_p.R219R|ACSM2A_ENST00000417235.2_Silent_p.R368R|ACSM2A_ENST00000575690.1_Silent_p.R447R|ACSM2A_ENST00000396104.2_Silent_p.R447R|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.R447R	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	447					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R447R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGAGACCGGGGAATCAAAG	0.493000													14	74					0	0	0.027356	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160275067	160275067	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:160275067G>T	ENST00000264431.4	+	22	4456	c.4037G>T	c.(4036-4038)cGg>cTg	p.R1346L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1346					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.R1334L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACAATAAAGCGGAGGGGTGGA	0.537000													34	30					2.47316e-13	3.36308e-13	0.015359	1	0
PCDHA10	56139	broad.mit.edu	37	5	140235739	140235739	+	Missense_Mutation	SNP	G	G	A	rs147800828		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:140235739G>A	ENST00000307360.5	+	1	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E36K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.E36K(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTCTACGAGGAGGCCAG	0.662000													25	74					0	0	0.009535	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379241	114379241	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:114379241C>A	ENST00000312719.5	-	5	1409	c.221G>T	c.(220-222)gGc>gTc	p.G74V	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.G74V|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	74					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.G74V(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGAAGCGTTGCCCTTCCGGAA	0.607000													14	57					9.31168e-06	1.06186e-05	0.016723	1	0
RBMX	27316	broad.mit.edu	37	X	135960160	135960160	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:135960160C>A	ENST00000562646.1	-	4	456	c.302G>T	c.(301-303)aGa>aTa	p.R101I	RBMX_ENST00000320676.7_Missense_Mutation_p.R101I|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	101						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R101I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GCCTCTACTTCTTGGAGGTGG	0.498000													8	76					0.00185496	0.00200286	0.016723	1	0
TBX15	6913	broad.mit.edu	37	1	119467339	119467339	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:119467339G>T	ENST00000369429.3	-	4	632	c.623C>A	c.(622-624)aCc>aAc	p.T208N	TBX15_ENST00000207157.3_Missense_Mutation_p.T102N			Q96SF7	TBX15_HUMAN	T-box 15	208						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T102N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCTCATCCAGGTGTCTCCAGA	0.458000													76	83					7.56961e-61	1.31557e-60	0.014410	1	0
MYLK3	91807	broad.mit.edu	37	16	46764575	46764575	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:46764575G>C	ENST00000394809.4	-	5	1613	c.1498C>G	c.(1498-1500)Cgg>Ggg	p.R500G	MYLK3_ENST00000536476.1_Missense_Mutation_p.R159G	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	500					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.R579G(1)|p.R500G(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCACTACCCGGTGTTCAAAA	0.607000													41	43					0	0	0.011902	0	0
TAGLN3	29114	broad.mit.edu	37	3	111718394	111718394	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:111718394T>C	ENST00000393917.2	+	2	677	c.125T>C	c.(124-126)aTa>aCa	p.I42T	TAGLN3_ENST00000455401.2_Missense_Mutation_p.I42T|TAGLN3_ENST00000273368.4_Missense_Mutation_p.I42T|TAGLN3_ENST00000478951.1_Missense_Mutation_p.I42T	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	42	CH.				central nervous system development|muscle organ development			p.I42T(2)		endometrium(2)|lung(5)|urinary_tract(1)	8						GCCGAGGACATAGAGCACCCG	0.607000													16	54					0	0	0.012319	0	0
GPR115	221393	broad.mit.edu	37	6	47682229	47682229	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:47682229G>T	ENST00000283303.2	+	6	1506	c.1248G>T	c.(1246-1248)ttG>ttT	p.L416F	GPR115_ENST00000371220.1_Missense_Mutation_p.L473F|GPR115_ENST00000327753.3_Missense_Mutation_p.L416F	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	416					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L416F(1)		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						TCCTAAGCTTGGTTCTTTGCC	0.488000													49	122					1.56989e-16	2.26763e-16	0.014410	1	0
OR51A7	119687	broad.mit.edu	37	11	4928721	4928721	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:4928721G>T	ENST00000359350.4	+	1	122	c.122G>T	c.(121-123)gGc>gTc	p.G41V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCATGGGCAACTGCACC	0.488000													46	117					6.32628e-17	9.17875e-17	0.014410	1	0
ACAD10	80724	broad.mit.edu	37	12	112174763	112174763	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:112174763C>T	ENST00000455480.2	+	13	1939	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.R557C|ACAD10_ENST00000392636.2_Missense_Mutation_p.R159C|ACAD10_ENST00000549590.1_Missense_Mutation_p.R557C	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	557							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.R557C(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCTTTTTCCGTGTGGCTGC	0.532000													4	123					0	0	0.009096	0	0
CTNND2	1501	broad.mit.edu	37	5	11159798	11159798	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:11159798G>T	ENST00000304623.8	-	12	2238	c.2049C>A	c.(2047-2049)acC>acA	p.T683T	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.T250T|CTNND2_ENST00000359640.2_Silent_p.T683T|CTNND2_ENST00000511377.1_Silent_p.T592T|CTNND2_ENST00000503622.1_Silent_p.T346T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	683					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T683T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCACCGCGTTGGTCAGTACTG	0.507000													23	114					7.87624e-14	1.09392e-13	0.016522	1	0
ACRC	93953	broad.mit.edu	37	X	70832808	70832808	+	Silent	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:70832808G>C	ENST00000373695.1	+	12	2589	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G	ACRC_ENST00000373696.3_Silent_p.G684G			Q96QF7	ACRC_HUMAN	acidic repeat containing	684						nucleus		p.G684G(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGAAAGATGGGACCCGTATTG	0.488000													20	120					0	0	0.012319	0	0
TALDO1	6888	broad.mit.edu	37	11	763398	763398	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:763398C>T	ENST00000319006.3	+	5	669	c.516C>T	c.(514-516)ttC>ttT	p.F172F	TALDO1_ENST00000528097.1_Silent_p.F172F			P37837	TALDO_HUMAN	transaldolase 1	172					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	p.F172F(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		TCTTCTCCTTCGCCCAGGCTG	0.632000													26	148					0	0	0.013726	0	0
CROCC	9696	broad.mit.edu	37	1	17292317	17292317	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:17292317T>C	ENST00000375541.5	+	28	4574	c.4505T>C	c.(4504-4506)cTg>cCg	p.L1502P		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1502					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.L1502P(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCTCCAGACCTGGACCCGGAG	0.667000													11	35					0	0	0.008871	0	0
F8	2157	broad.mit.edu	37	X	154225290	154225290	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:154225290T>G	ENST00000360256.4	-	3	546	c.346A>C	c.(346-348)Agt>Cgt	p.S116R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	116	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S116R(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCATGAAGACTGACAGGATGG	0.443000													6	280					0	0	0.004482	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063372	48063372	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:48063372G>A	ENST00000316364.5	+	19	3051	c.2612G>A	c.(2611-2613)cGt>cAt	p.R871H	SEMA6D_ENST00000558014.1_Missense_Mutation_p.R809H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R796H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R852H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R815H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R809H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R871H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R809H|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R828H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	871					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.R871H(1)|p.R809H(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GATCACCGGCGTTCTGTTGAT	0.443000													24	82					0	0	0.016522	0	0
IFT81	28981	broad.mit.edu	37	12	110574609	110574609	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:110574609G>A	ENST00000242591.5	+	8	1231	c.725G>A	c.(724-726)aGa>aAa	p.R242K	IFT81_ENST00000361948.4_Missense_Mutation_p.R242K|IFT81_ENST00000552912.1_Missense_Mutation_p.R242K	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	242					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.R242K(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGATTGCAAAGAGTACAAAAC	0.348000													11	30					0	0	0.016723	0	0
FDX1L	112812	broad.mit.edu	37	19	10421173	10421173	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10421173T>C	ENST00000393708.3	-	5	559	c.541A>G	c.(541-543)Aag>Gag	p.K181E	FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000494368.1_Missense_Mutation_p.K46E|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	181					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	p.K181E(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CAGTGGGGCTTGGGGACATGG	0.612000													5	62					0	0	0.021553	0	0
OR4X1	390113	broad.mit.edu	37	11	48285600	48285600	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:48285600A>G	ENST00000320048.1	+	1	188	c.188A>G	c.(187-189)tAc>tGc	p.Y63C		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y63C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TTTCTCAGCTACTTATCCTTT	0.493000													6	102					0	0	0.021553	0	0
OR8J1	219477	broad.mit.edu	37	11	56128013	56128013	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:56128013T>A	ENST00000303039.3	+	1	323	c.291T>A	c.(289-291)tgT>tgA	p.C97*		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCTATGAATGTGCCACCCAAC	0.413000													34	118					0	0	0.017118	0	0
UNC13D	201294	broad.mit.edu	37	17	73832735	73832735	+	Missense_Mutation	SNP	C	C	T	rs149099554		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:73832735C>T	ENST00000207549.4	-	14	1595	c.1216G>A	c.(1216-1218)Ggc>Agc	p.G406S	UNC13D_ENST00000412096.2_Missense_Mutation_p.G406S	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	406	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.G406S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGAGAGGCCGTAGGTCAGC	0.637000									Familial Hemophagocytic Lymphohistiocytosis				20	60					0	0	0.018920	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745193	135745193	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:135745193A>T	ENST00000375845.3	-	7	1279	c.1249T>A	c.(1249-1251)Tca>Aca	p.S417T	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S434T|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S304T|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.S417T(1)									ACTCTTTTTGAAGCAGCTTTA	0.343000													28	120					0	0	0.030593	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69421829	69421829	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:69421829G>T	ENST00000333026.3	+	5	662	c.562G>T	c.(562-564)Gct>Tct	p.A188S		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	188					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.A188S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGGTGGAGCTGCTGAAGCTCT	0.537000													9	62					7.48243e-07	8.71609e-07	0.006214	1	0
BGLAP	632	broad.mit.edu	37	1	156212901	156212901	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:156212901C>T	ENST00000368272.4	+	4	521	c.251C>T	c.(250-252)gCt>gTt	p.A84V	PMF1-BGLAP_ENST00000320139.5_3'UTR|PMF1-BGLAP_ENST00000490491.1_3'UTR|PMF1-BGLAP_ENST00000368276.4_3'UTR	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	84	Gla.				bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone	p.A84V(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Phytonadione(DB01022)	GACGAGTTGGCTGACCACATC	0.652000													4	189					0	0	0.014758	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28337760	28337760	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:28337760C>A	ENST00000284987.5	-	1	1072	c.951G>T	c.(949-951)aaG>aaT	p.K317N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	317	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K317N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCACCACCACCTTCACCACGG	0.587000													9	138					3.09899e-07	3.6758e-07	0.004482	1	0
PTPN18	26469	broad.mit.edu	37	2	131127758	131127758	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:131127758C>T	ENST00000175756.5	+	8	785	c.684C>T	c.(682-684)caC>caT	p.H228H	PTPN18_ENST00000347849.3_Silent_p.H121H	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	228	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.H228H(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCTGTGTCCACTGCAGGTTTT	0.622000													32	127					0	0	0.013726	0	0
KIF13B	23303	broad.mit.edu	37	8	29023195	29023195	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:29023195G>A	ENST00000524189.1	-	12	1291	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	KIF13B_ENST00000521515.1_Missense_Mutation_p.T418M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	418					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.T418M(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AATCTCCTCCGTTTTCCTTAA	0.458000													8	71					0	0	0.006214	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498858	31498858	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr16:31498858C>T	ENST00000330498.3	+	7	682	c.663C>T	c.(661-663)caC>caT	p.H221H	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	221					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.H221H(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CAGCCTTCCACGAGGTGGGCG	0.657000													18	88					0	0	0.016522	0	0
FDX1L	112812	broad.mit.edu	37	19	10421195	10421195	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:10421195G>C	ENST00000393708.3	-	5	537	c.519C>G	c.(517-519)ttC>ttG	p.F173L	FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000494368.1_Missense_Mutation_p.F38L|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	173					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	p.F173L(1)		NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CATCCACGTAGAAGTTCCTGG	0.607000													6	60					0	0	0.029380	0	0
FZR1	51343	broad.mit.edu	37	19	3525945	3525945	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:3525945C>A	ENST00000441788.2	+	3	385	c.149C>A	c.(148-150)cCc>cAc	p.P50H	FZR1_ENST00000313639.8_Missense_Mutation_p.P50H|FZR1_ENST00000395095.3_Missense_Mutation_p.P50H	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	50					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	p.P50H(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTTCATCCCCTCCAGAGCC	0.667000													6	35					2.0095e-06	2.32415e-06	0.029380	1	0
MED24	9862	broad.mit.edu	37	17	38179414	38179414	+	Silent	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:38179414G>A	ENST00000394126.1	-	19	2713	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	MED24_ENST00000501516.3_Silent_p.G759G|MED24_ENST00000394127.2_Silent_p.G727G|MED24_ENST00000394128.2_Silent_p.G740G|MED24_ENST00000356271.3_Silent_p.G727G			O75448	MED24_HUMAN	mediator complex subunit 24	740					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G740G(2)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACCAGTAGACGCCGCCCATGT	0.592000													17	27					0	0	0.007413	0	0
SMCHD1	23347	broad.mit.edu	37	18	2656197	2656197	+	Silent	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:2656197G>T	ENST00000320876.6	+	1	461	c.123G>T	c.(121-123)ggG>ggT	p.G41G	SMCHD1_ENST00000261598.8_Silent_p.G41G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	41					chromosome organization		ATP binding	p.G41G(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCGAGCTCGGGGACCGGCCTC	0.667000													9	16					0.000442599	0.000485962	0.006214	1	0
CCDC178	374864	broad.mit.edu	37	18	30913319	30913319	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:30913319C>A	ENST00000383096.3	-	10	880	c.698G>T	c.(697-699)tGg>tTg	p.W233L	CCDC178_ENST00000406524.2_Missense_Mutation_p.W233L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.W233L|CCDC178_ENST00000583930.1_Missense_Mutation_p.W233L|CCDC178_ENST00000579947.1_Missense_Mutation_p.W233L|CCDC178_ENST00000403303.1_Missense_Mutation_p.W233L|CCDC178_ENST00000300227.8_Missense_Mutation_p.W233L					coiled-coil domain containing 178									p.W233L(2)									TTCAAGATGCCATTGTAATTC	0.308000													8	53					0.000442599	0.000485962	0.006214	1	0
MCM3AP	8888	broad.mit.edu	37	21	47655246	47655246	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:47655246G>A	ENST00000397708.1	-	29	6133	c.5879C>T	c.(5878-5880)tCa>tTa	p.S1960L	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1960L|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1960					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.S1960L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCCCTTGAACTCCGGAT	0.552000													31	18					0	0	0.037714	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621915	65621915	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:65621915A>G	ENST00000327987.4	-	13	2269	c.2018T>C	c.(2017-2019)gTg>gCg	p.V673A		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	673								p.V673A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTTTTCCACATCTTTACA	0.612000													33	57					0	0	0.015359	0	0
MMAA	166785	broad.mit.edu	37	4	146560391	146560391	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:146560391C>G	ENST00000281317.5	+	2	1310	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	34						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.L34V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGTACTCATCTCGGATCAGG	0.438000													5	194					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179575399	179575399	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179575399C>A	ENST00000589042.1	-	98	28649	c.28425G>T	c.(28423-28425)gtG>gtT	p.V9475V	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V8231V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.V9158V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9158							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8231V(1)		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)			AGTCTTTTCCCACTTCATTCA	0.403000													5	151					3.59834e-05	4.03262e-05	0.021553	1	0
CAMKMT	79823	broad.mit.edu	37	2	44970769	44970769	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:44970769G>A	ENST00000378494.3	+	8	676	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	211						cytoplasm	calmodulin-lysine N-methyltransferase activity	p.R211Q(1)		breast(2)|large_intestine(3)|lung(5)	10						AGCGTTTTACGATGGGATAAT	0.308000													4	48					0	0	0.009096	0	0
TBC1D12	23232	broad.mit.edu	37	10	96291100	96291100	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:96291100G>A	ENST00000225235.4	+	12	2252	c.2142G>A	c.(2140-2142)atG>atA	p.M714I	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	714						intracellular	Rab GTPase activator activity	p.M714I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TCCTGCAGATGGACTTTATTC	0.388000													26	89					0	0	0.037714	0	0
LAMA1	284217	broad.mit.edu	37	18	6986344	6986344	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:6986344G>T	ENST00000389658.3	-	37	5264	c.5171C>A	c.(5170-5172)gCt>gAt	p.A1724D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1724	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.A1724D(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCTTCAGCAGCCCTGATAAA	0.363000													31	89					6.04164e-23	9.17539e-23	0.010818	1	0
HELZ	9931	broad.mit.edu	37	17	65082999	65082999	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:65082999G>C	ENST00000358691.5	-	32	5606	c.5440C>G	c.(5440-5442)Cag>Gag	p.Q1814E	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1815E	NM_014877.3	NP_055692.2			helicase with zinc finger									p.Q1814E(1)		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)					GGAATGTTCTGATAAGGAGTA	0.478000													33	172					0	0	0.017118	0	0
TTN	7273	broad.mit.edu	37	2	179395969	179395969	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:179395969T>C	ENST00000589042.1	-	358	105597	c.105373A>G	c.(105373-105375)Acg>Gcg	p.T35125A	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26252A|TTN_ENST00000460472.2_Missense_Mutation_p.T26060A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26185A|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32557A|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33484A|TTN-AS1_ENST00000587944.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33484							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T26060A(1)|p.T32555A(1)|p.T26185A(1)|p.T32557A(1)|p.T26252A(1)		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)			GCCAAAGTCGTCTTGATCTTT	0.463000													103	170					0	0	0.014410	0	0
KCNS3	3790	broad.mit.edu	37	2	18113214	18113214	+	Silent	SNP	A	A	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:18113214A>G	ENST00000403915.1	+	3	1390	c.939A>G	c.(937-939)ctA>ctG	p.L313L	KCNS3_ENST00000304101.4_Silent_p.L313L|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	313					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.L313L(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCGGTCTCTAGGTGCCACAC	0.498000													17	242					0	0	0.028581	0	0
BCL10	8915	broad.mit.edu	37	1	85736391	85736391	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:85736391T>C	ENST00000370580.1	-	2	993	c.256A>G	c.(256-258)Att>Gtt	p.I86V		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	86	CARD.				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	p.I86V(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TCTCGCCGAATAGATTCAACA	0.358000			T	IGH@	MALT								23	202					0	0	0.018920	0	0
PRAME	23532	broad.mit.edu	37	22	22893228	22893228	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr22:22893228T>A	ENST00000543184.1	-	3	1167	c.305A>T	c.(304-306)gAt>gTt	p.D102V	PRAME_ENST00000406503.1_Missense_Mutation_p.D102V|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000398741.1_Missense_Mutation_p.D102V|PRAME_ENST00000539862.1_Missense_Mutation_p.D86V|PRAME_ENST00000405655.3_Missense_Mutation_p.D102V|PRAME_ENST00000402697.1_Missense_Mutation_p.D102V|PRAME_ENST00000424204.2_Missense_Mutation_p.D86V|PRAME_ENST00000398743.2_Missense_Mutation_p.D102V	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	102					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.D102V(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCAAGTCCATCAAGCACAGC	0.597000													26	117					0	0	0.021523	0	0
KCNH1	3756	broad.mit.edu	37	1	211192154	211192154	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:211192154G>C	ENST00000271751.4	-	6	1030	c.1003C>G	c.(1003-1005)Cca>Gca	p.P335A	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	335					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.P335A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTGGTGGTGGAATCTGATCA	0.453000													15	259					0	0	0.028581	0	0
PSIP1	11168	broad.mit.edu	37	9	15472678	15472678	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:15472678T>G	ENST00000380733.4	-	10	1272	c.929A>C	c.(928-930)gAa>gCa	p.E310A	PSIP1_ENST00000380716.4_Missense_Mutation_p.E310A|PSIP1_ENST00000397519.2_Missense_Mutation_p.E310A|PSIP1_ENST00000380715.1_Missense_Mutation_p.E310A|PSIP1_ENST00000380738.4_Missense_Mutation_p.E310A			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	310					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	p.E310A(2)		breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATCTGCTGCTTCTTTCTCATG	0.373000													20	62					0	0	0.014323	0	0
OBSL1	23363	broad.mit.edu	37	2	220434961	220434961	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:220434961C>A	ENST00000404537.1	-	1	1050	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	INHA_ENST00000489456.1_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.V332L|OBSL1_ENST00000603926.1_Missense_Mutation_p.V332L|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000373873.4_Missense_Mutation_p.V332L|OBSL1_ENST00000265318.4_Missense_Mutation_p.V332L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	332					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.V332L(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGCAGCTGCACGGCACTGAGC	0.692000													11	15					3.07112e-06	3.5269e-06	0.010729	1	0
SYT10	341359	broad.mit.edu	37	12	33529829	33529829	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:33529829C>G	ENST00000228567.3	-	7	1804	c.1508G>C	c.(1507-1509)gGc>gCc	p.G503A	SYT10_ENST00000535526.1_Missense_Mutation_p.G322A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	503						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G503A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGTCGCCCGGCCAGGTAACTG	0.398000													26	49					0	0	0.027356	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193795	193795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:193795G>T	ENST00000342878.2	+	2	159	c.139G>T	c.(139-141)Gag>Tag	p.E47*	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	47						extracellular region	binding	p.E47*(1)		endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		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)		GGAGCTCTATGAGGGGACCTT	0.537000													9	90					0.00448238	0.00479202	0.004482	1	0
MBD1	4152	broad.mit.edu	37	18	47800612	47800612	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr18:47800612C>A	ENST00000591416.1	-	11	1521	c.1090G>T	c.(1090-1092)Ggc>Tgc	p.G364C	MBD1_ENST00000424334.2_Missense_Mutation_p.G415C|MBD1_ENST00000269471.5_Missense_Mutation_p.G341C|MBD1_ENST00000588937.1_Missense_Mutation_p.G341C|MBD1_ENST00000590208.1_Missense_Mutation_p.G364C|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000353909.3_Missense_Mutation_p.G315C|MBD1_ENST00000339998.6_Missense_Mutation_p.G364C|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.G364C|MBD1_ENST00000457839.2_Missense_Mutation_p.G389C|MBD1_ENST00000591535.1_Missense_Mutation_p.G341C|MBD1_ENST00000269468.5_Missense_Mutation_p.G364C|MBD1_ENST00000436910.1_Missense_Mutation_p.G341C|MBD1_ENST00000585595.1_Missense_Mutation_p.G389C|MBD1_ENST00000585672.1_Missense_Mutation_p.G314C|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000398493.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	364					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	p.G364C(2)|p.G389C(1)|p.G341C(1)		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						TGGTTGCTGCCCCCGAATTTG	0.652000													46	56					3.21987e-24	4.98313e-24	0.014410	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449798	105449798	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:105449798C>A	ENST00000337685.2	+	5	1158	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.Q125K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.Q125K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	125								p.Q125K(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCACAAAAACAGTCCGATTC	0.433000													3	42					0.000602214	0.000656777	0.014758	1	0
AASDH	132949	broad.mit.edu	37	4	57217624	57217624	+	Splice_Site	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr4:57217624C>T	ENST00000205214.6	-	10	1757		c.e10-1		AASDH_ENST00000602986.1_Splice_Site|AASDH_ENST00000451613.1_Splice_Site|AASDH_ENST00000513376.1_Splice_Site|AASDH_ENST00000434343.2_Splice_Site|AASDH_ENST00000502617.1_Splice_Site	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase						fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	p.?(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCAATTTTGCCTTAATATAAA	0.264000													15	26					0	0	0.024245	0	0
ESRRG	2104	broad.mit.edu	37	1	216850421	216850421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:216850421G>A	ENST00000391890.3	-	4	917	c.400C>T	c.(400-402)Caa>Taa	p.Q134*	ESRRG_ENST00000361525.3_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.Q162*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.Q157*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.Q134*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.Q134*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	157					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q157*(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CACTAACCTTGAATTGTCCTC	0.448000													17	92					0	0	0.006122	0	0
FRMPD4	9758	broad.mit.edu	37	X	12722577	12722577	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:12722577T>C	ENST00000380682.1	+	11	1676	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	390	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.N380N(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAAGCAAATCAAAACTTGG	0.343000													3	103					0	0	0.009096	0	0
EPHA6	285220	broad.mit.edu	37	3	97356765	97356765	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr3:97356765G>A	ENST00000389672.5	+	14	2661	c.2623G>A	c.(2623-2625)Ggc>Agc	p.G875S	EPHA6_ENST00000514100.1_Missense_Mutation_p.G267S|EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000502694.1_Missense_Mutation_p.G267S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	780	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G267S(1)|p.G875S(1)|p.G781S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AATGCTCCGAGGCATTGCATC	0.423000													22	73					0	0	0.021523	0	0
IGSF1	3547	broad.mit.edu	37	X	130420644	130420644	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:130420644G>T	ENST00000370904.1	-	9	915	c.5C>A	c.(4-6)aCc>aAc	p.T2N	IGSF1_ENST00000370901.4_Missense_Mutation_p.T2N|IGSF1_ENST00000361420.3_Missense_Mutation_p.T2N|IGSF1_ENST00000370910.1_Missense_Mutation_p.T2N|IGSF1_ENST00000370900.1_Missense_Mutation_p.T2N|IGSF1_ENST00000370903.3_Missense_Mutation_p.T2N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	2					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.T2N(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTGTCCAGGGTCATGGGGCC	0.522000													47	60					4.57556e-38	7.74509e-38	0.013114	1	0
TTC16	158248	broad.mit.edu	37	9	130479235	130479235	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr9:130479235G>T	ENST00000373289.3	+	2	211	c.131G>T	c.(130-132)aGc>aTc	p.S44I	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000419060.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	44							binding	p.S44I(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GTGTTCCAAAGCATCTGTGAT	0.552000													9	59					7.48243e-07	8.71609e-07	0.006214	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	109					0	0	0.009096	0	0
ABCA12	26154	broad.mit.edu	37	2	215862467	215862467	+	Silent	SNP	A	A	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:215862467A>T	ENST00000272895.7	-	23	3465	c.3246T>A	c.(3244-3246)gcT>gcA	p.A1082A	ABCA12_ENST00000389661.4_Silent_p.A764A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1082					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A1082A(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTACAAAGGCAGCTATAAATA	0.358000													7	80					0	0	0.006214	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888619	159888619	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:159888619C>A	ENST00000368097.4	-	5	881	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C	TAGLN2_ENST00000368096.1_Missense_Mutation_p.G212C|TAGLN2_ENST00000320307.4_Missense_Mutation_p.G191C|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	191					muscle organ development	nuclear membrane|plasma membrane	protein binding	p.G191F(1)		endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCCCGTAGCCAGTCATGCCT	0.547000													55	136					5.73376e-24	8.83162e-24	0.014410	1	0
PDE11A	50940	broad.mit.edu	37	2	178879143	178879143	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:178879143C>A	ENST00000286063.5	-	2	1274	c.957G>T	c.(955-957)aaG>aaT	p.K319N	PDE11A_ENST00000358450.4_Missense_Mutation_p.K69N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	319	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.K69N(1)|p.K319N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATGATTTTGTCTTGTATCCAG	0.403000									Primary Pigmented Nodular Adrenocortical Disease, Familial				8	53					4.68919e-08	5.72927e-08	0.008291	1	0
GAA	2548	broad.mit.edu	37	17	78078846	78078846	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr17:78078846G>T	ENST00000302262.3	+	2	680	c.461G>T	c.(460-462)cGt>cTt	p.R154L	GAA_ENST00000390015.3_Missense_Mutation_p.R154L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	154					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	p.R154L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACCCTGACCCGTACCACCCCC	0.627000													19	37					1.37657e-19	2.02436e-19	0.012319	1	0
BRSK1	84446	broad.mit.edu	37	19	55814218	55814218	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr19:55814218C>A	ENST00000309383.1	+	10	1288	c.1011C>A	c.(1009-1011)cgC>cgA	p.R337R	BRSK1_ENST00000585418.1_Silent_p.R337R|BRSK1_ENST00000590333.1_Silent_p.R353R|BRSK1_ENST00000326848.7_Silent_p.R32R	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	337	UBA.				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	p.R337R(2)		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)		GGCTGCATCGCGAGCTGCGCA	0.657000													31	41					1.06801e-11	1.42256e-11	0.009535	1	0
SH3PXD2B	285590	broad.mit.edu	37	5	171765673	171765673	+	Silent	SNP	C	C	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:171765673C>T	ENST00000311601.5	-	13	2606	c.2436G>A	c.(2434-2436)ttG>ttA	p.L812L	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	812					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.L812L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTGGCCCCCCAAAGAGTTGG	0.612000													4	27					0	0	0.009096	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958283	122958283	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:122958283C>A	ENST00000543897.1	-	12	3526	c.1171G>T	c.(1171-1173)Gtc>Ttc	p.V391F	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.V240F|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.V391F|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.V629F			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	629						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	p.V629F(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTGGTACGACACTGCCATTA	0.498000													13	251					2.27111e-07	2.71364e-07	0.013537	1	0
BAI2	576	broad.mit.edu	37	1	32197007	32197007	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:32197007C>A	ENST00000373658.3	-	29	4115	c.3774G>T	c.(3772-3774)gaG>gaT	p.E1258D	BAI2_ENST00000398542.1_Missense_Mutation_p.E1158D|BAI2_ENST00000257070.4_Missense_Mutation_p.E1225D|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Missense_Mutation_p.E1246D|BAI2_ENST00000440175.2_Missense_Mutation_p.E867D|BAI2_ENST00000373655.2_Missense_Mutation_p.E1258D|BAI2_ENST00000398547.1_Missense_Mutation_p.E1191D|BAI2_ENST00000527361.1_Missense_Mutation_p.E1225D|BAI2_ENST00000398556.3_Missense_Mutation_p.E1173D	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1258					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E1258D(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AAGTGTTGACCTCCTTGAACA	0.627000													14	35					0.000566183	0.000619561	0.033300	1	0
PRSS35	167681	broad.mit.edu	37	6	84233922	84233922	+	Silent	SNP	C	C	A			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr6:84233922C>A	ENST00000536636.1	+	3	1107	c.762C>A	c.(760-762)gtC>gtA	p.V254V	PRSS35_ENST00000369700.3_Silent_p.V254V	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	254	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.V254V(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACCCGGGTCAAGAATACCC	0.562000													38	46					4.62619e-21	6.86535e-21	0.019004	1	0
KLHL13	90293	broad.mit.edu	37	X	117033333	117033333	+	Silent	SNP	T	T	C			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:117033333T>C	ENST00000371876.1	-	6	3774	c.1353A>G	c.(1351-1353)caA>caG	p.Q451Q	KLHL13_ENST00000541812.1_Silent_p.Q486Q|KLHL13_ENST00000262820.3_Silent_p.Q502Q|KLHL13_ENST00000371878.1_Silent_p.Q451Q|KLHL13_ENST00000539496.1_Silent_p.Q505Q|KLHL13_ENST00000371882.1_Silent_p.Q451Q|KLHL13_ENST00000540167.1_Silent_p.Q486Q|KLHL13_ENST00000469946.1_Silent_p.Q451Q|KLHL13_ENST00000545703.1_Silent_p.Q460Q			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	502					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.Q502Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGAGCTCCTTTTGGAAAGTAT	0.388000													34	232					0	0	0.019004	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415727	25415727	+	RNA	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr15:25415727G>T	ENST00000549301.1	+	0	241				SNHG14_ENST00000553149.1_RNA																							AATGGCCCTCGGCCAGTGTCC	0.617000													13	15					1.5739e-10	2.02983e-10	0.028581	1	0
MARK1	4139	broad.mit.edu	37	1	220791808	220791808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:220791808G>T	ENST00000402574.1	+	8	1306	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	MARK1_ENST00000366917.4_Nonsense_Mutation_p.E237*|MARK1_ENST00000366918.4_Nonsense_Mutation_p.E215*	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	237	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.E237*(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGATGGGCCTGAAGTGGATGT	0.433000													28	40					7.01153e-11	9.1516e-11	0.034045	1	0
EPB41L5	57669	broad.mit.edu	37	2	120849214	120849214	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:120849214C>G	ENST00000263713.5	+	13	1341	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.S376C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.S376C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.S376C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.S376C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	376						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.S376C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAACGATATTCTAGACGAACT	0.378000													23	33					0	0	0.024334	0	0
MACF1	23499	broad.mit.edu	37	1	39827187	39827187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr1:39827187delG	ENST00000564288.1	+	49	13386	c.12609delG	c.(12607-12609)cafs	p.Q4205fs	MACF1_ENST00000372915.3_Frame_Shift_Del_p.Q4210fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.Q4242fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.Q2143fs|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Frame_Shift_Del_p.Q2143fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.Q2143fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.Q2645fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.Q2143fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4210					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGTCTACAGCAGCAAGAAA	0.517													13	114	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11332269	11332273	+	Splice_Site	DEL	ATTAC	ATTAC	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr2:11332269_11332273delATTAC	ENST00000315872.6	-	32	4612		c.e32+1		ROCK2_ENST00000401753.1_Splice_Site	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2						axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATTTTAGTTTATTACCTAGGTTTGT	0.341													39	118	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													4	5	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145010135	145010143	+	In_Frame_Del	DEL	CTTGGCCGT	CTTGGCCGT	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr8:145010135_145010143delCTTGGCCGT	ENST00000322810.4	-	6	1055_1063	c.886_894delACGGCCAAG	c.(886-894)del	p.TAK296del	PLEC_ENST00000354589.3_In_Frame_Del_p.TAK159del|PLEC_ENST00000356346.3_In_Frame_Del_p.TAK145del|PLEC_ENST00000354958.2_In_Frame_Del_p.TAK137del|PLEC_ENST00000357649.2_In_Frame_Del_p.TAK163del|PLEC_ENST00000398774.2_In_Frame_Del_p.TAK127del|PLEC_ENST00000527096.1_In_Frame_Del_p.TAK186del|PLEC_ENST00000345136.3_In_Frame_Del_p.TAK159del|PLEC_ENST00000436759.2_In_Frame_Del_p.TAK186del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	296	Actin-binding.|CH 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTTCTCCTTGGCCGTCATGTCCTCC	0.617													14	56	---	---	---	---					
RP13-16H11.2	0	broad.mit.edu	37	10	26958525	26958527	+	RNA	DEL	AAG	AAG	-	rs61245710		TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:26958525_26958527delAAG	ENST00000446557.1	-	0	44																											aagaaaagaaaagaagaaGAATC	0.335													2	4	---	---	---	---					
SFR1	119392	broad.mit.edu	37	10	105883551	105883553	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr10:105883551_105883553delTTA	ENST00000336358.5	+	2	920_922	c.401_403delTTA	c.(400-405)caa>c	p.LK134del	SFR1_ENST00000369727.3_In_Frame_Del_p.LK72del|SFR1_ENST00000369729.3_In_Frame_Del_p.LK59del			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	72					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GTGAAACGTCTTAAAGTAGAGAG	0.330													15	94	---	---	---	---					
OR51L1	119682	broad.mit.edu	37	11	5020560	5020561	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr11:5020560_5020561insT	ENST00000321543.1	+	1	348_349	c.348_349insT	c.(346-351)gttgctfs	p.A117fs		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCTCAGTGTTGCTGGCCAT	0.500													76	154	---	---	---	---					
SPIC	121599	broad.mit.edu	37	12	101876581	101876581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr12:101876581delG	ENST00000551346.1	+	5	381	c.222delG	c.(220-222)gcfs	p.A74fs	SPIC_ENST00000299272.5_Frame_Shift_Del_p.A74fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	74						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGTGCTGCGGACTTCTATT	0.413													51	263	---	---	---	---					
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:35782216delA	ENST00000261479.4	+	5	659	c.539delA	c.(538-540)gafs	p.E180fs	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					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|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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCTTCCTTGAAAAAAAAGTG	0.403													12	1513	---	---	---	---					
TRAPPC6B	122553	broad.mit.edu	37	14	39620949	39620949	+	Splice_Site	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr14:39620949delC	ENST00000330149.5	-	5	672		c.e5+1		TRAPPC6B_ENST00000557764.1_Splice_Site|TRAPPC6B_ENST00000347691.5_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ATTCAACTTACAAGCAGGCAT	0.308													25	252	---	---	---	---					
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chr21:15436915delG	ENST00000428809.1	+	0	177																											CCCCTGGGACGGGGGCCTTGG	0.687													3	6	---	---	---	---					
TCEAL5	340543	broad.mit.edu	37	X	102528926	102528926	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:102528926delC	ENST00000372680.1	-	3	860	c.566delG	c.(565-567)gafs	p.G189fs		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GCCCCTCACTCCCCTCACACC	0.478													48	195	---	---	---	---					
AFF2	2334	broad.mit.edu	37	X	147744260	147744260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:147744260delC	ENST00000370460.2	+	3	1491	c.1012delC	c.(1012-1014)cafs	p.P338fs	AFF2_ENST00000370457.5_Frame_Shift_Del_p.P334fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.P334fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.P334fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	338					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GACTAAACTGCCAAAGTTCAC	0.368													15	82	---	---	---	---					
F8	2157	broad.mit.edu	37	X	154221303	154221303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4662-01A-01D-1265-08	TCGA-73-4662-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48262c89-ecac-44c6-9a06-7170b7b41058	9393041d-02ec-478c-b0f1-ca9bb6f9d0f1	g.chrX:154221303delG	ENST00000360256.4	-	4	709	c.509delC	c.(508-510)cafs	p.P170fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	170	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGCACAGTGGGTCAGAGGC	0.458													64	302	---	---	---	---