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
PRSS22	64063	broad.mit.edu	37	16	2903128	2903128	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:2903128G>T	ENST00000161006.3	-	6	985	c.920C>A	c.(919-921)cCg>cAg	p.P307Q	PRSS22_ENST00000571228.1_Missense_Mutation_p.P197Q	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	307					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCCTGGCTCGGTGCCCTGAG	0.706000													3	26					6.4e-05	7.17949e-05	1	1	0
IGHM	0	broad.mit.edu	37	14	106322075	106322075	+	RNA	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:106322075G>A	ENST00000390559.2	-	0	248																											CCACGTGTTCGTCTGTGCCCT	0.622000													4	129					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52820636	52820636	+	Splice_Site	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:52820636C>A	ENST00000252245.5	-	8	1603		c.e8-1		RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75							keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCACTCAACCTGATTGGGAA	0.463000													7	52					0.0293803	0.0300676	1	1	0
SIGLEC11	114132	broad.mit.edu	37	19	50461937	50461937	+	Silent	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:50461937C>A	ENST00000447370.2	-	7	1416	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SIGLEC11_ENST00000426971.2_Silent_p.L442L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	442	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCTGGGAGCCCAGAGGGTGCT	0.667000													12	142					2.68362e-12	3.30728e-12	1	1	0
TRBV7-7	0	broad.mit.edu	37	7	142120060	142120060	+	RNA	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:142120060T>A	ENST00000390377.1	-	0	106																											AGTTACATCCTGTCCCCTCTT	0.473000													5	59					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525215	248525215	+	Silent	SNP	C	C	T	rs148489116		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:248525215C>T	ENST00000366475.1	+	1	333	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTGCCCAAGATGCTCC	0.488000													18	262					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H			Q92859	NEO1_HUMAN	neogenin 1	1162					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAAACCTCCAGATCTCTGGAT	0.463000													7	51					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21349317	21349317	+	Splice_Site	SNP	T	T	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr22:21349317T>G	ENST00000215739.8	+	16	2301		c.e16+2		LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGACATTGGTAGGGAGCCCC	0.647000													9	92					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2876456	2876456	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:2876456A>G	ENST00000545496.1	-	4	410	c.119T>C	c.(118-120)cTg>cCg	p.L40P	ARSE_ENST00000381134.3_Missense_Mutation_p.L15P|ARSE_ENST00000540563.1_Intron|ARSE_ENST00000496095.1_5'UTR			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	15					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGCTGGCAGCCAGCTCCT	0.517000													4	31					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	66999361	66999361	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:66999361C>A	ENST00000529006.2	+	12	1855	c.1409C>A	c.(1408-1410)tCt>tAt	p.S470Y	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGTTGGAGTCTCTGCCACTG	0.488000													28	182					1.17739e-12	1.4613e-12	1	1	0
HSD11B1	3290	broad.mit.edu	37	1	209879155	209879155	+	Splice_Site	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:209879155G>C	ENST00000367028.2	+	3	257		c.e3-1		RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1						glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGGTTCCCCAGAGATGCTCCA	0.488000													6	81					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117662661	117662661	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:117662661G>A	ENST00000368508.3	-	29	5002	c.4804C>T	c.(4804-4806)Cta>Tta	p.L1602L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.L1596L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1602	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGAATTAGGGCCAGGTGT	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	91					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89445000	89445000	+	Silent	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:89445000C>A	ENST00000336596.2	+	6	1545	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	EPHA3_ENST00000494014.1_Silent_p.V440V|EPHA3_ENST00000452448.2_Silent_p.V440V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	440	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATCACCTGTCCTGACGATTA	0.463000										TSP Lung(6;0.00050)			20	112					8.34094e-07	9.86259e-07	1	1	0
AHRR	57491	broad.mit.edu	37	5	427996	427996	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:427996G>A	ENST00000316418.5	+	9	893	c.849G>A	c.(847-849)ccG>ccA	p.P283P	AHRR_ENST00000505113.1_Silent_p.P265P|AHRR_ENST00000506456.1_Silent_p.P121P|AHRR_ENST00000512529.1_Silent_p.P111P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCATGCTCCCGCCGCGGCTGT	0.557000													14	36					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135961213	135961213	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:135961213G>T	ENST00000562646.1	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	60	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			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)					CTTAGCGTCTGCTGGGCTTTC	0.383000													5	100					1	1	1	1	0
IWS1	55677	broad.mit.edu	37	2	128262666	128262666	+	Silent	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128262666G>C	ENST00000295321.4	-	3	1072	c.813C>G	c.(811-813)ccC>ccG	p.P271P	IWS1_ENST00000455721.2_Silent_p.P278P|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	271	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGATTCGGGGTTTGGGAA	0.522000													32	275					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68272329	68272329	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:68272329C>T	ENST00000347230.4	-	7	1162	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	342					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AATGTTAGTGCTGTTACCTGT	0.433000													10	59					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39607410	39607410	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:39607410T>C	ENST00000262039.4	+	14	1574	c.1488T>C	c.(1486-1488)taT>taC	p.Y496Y	PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Silent_p.Y433Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	496					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTTAAGGTATGTGATAGTGG	0.333000										TSP Lung(28;0.18)			3	38					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151137675	151137675	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:151137675C>T	ENST00000368908.5	-	1	720	c.60G>A	c.(58-60)cgG>cgA	p.R20R	LYSMD1_ENST00000440902.2_Intron	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	20					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGAACGAGCCCGGCTCCCTT	0.622000													32	69					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41529908	41529908	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:41529908G>A	ENST00000396942.1	-	38	5143	c.5060C>T	c.(5059-5061)cCc>cTc	p.P1687L	ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1687L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1687	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACGGTGGGGGAATGTGT	0.557000													8	96					0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76981	76981	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:76981A>T	ENST00000382410.2	+	2	394	c.394A>T	c.(394-396)Act>Tct	p.T132S		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	132					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TACTCCCGAGACTACTATGCC	0.433000													8	218					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084808	39084808	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:39084808C>T	ENST00000209718.3	-	5	1112	c.688G>A	c.(688-690)Gat>Aat	p.D230N	KRT23_ENST00000436344.3_Missense_Mutation_p.D93N|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	230	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGACCTGTATCCACCTTCACA	0.408000													19	157					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42747201	42747201	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:42747201T>C	ENST00000372980.3	-	3	2104	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	411					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AATGTTGGACTCCTGGTTGGC	0.612000													7	191					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290041	62290041	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:62290041G>A	ENST00000378024.4	-	5	12122	c.11848C>T	c.(11848-11850)Cca>Tca	p.P3950S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3950					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGACCTTCTCCT	0.507000													21	390					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203847	56203847	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:56203847G>A	ENST00000361673.3	-	5	3785	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1191							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGACCCTCGTCCCCCAACC	0.557000													5	140					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393000													6	52					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592951	38592951	+	Silent	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592951G>T	ENST00000413689.1	-	28	5105	c.4912C>A	c.(4912-4914)Cga>Aga	p.R1638R	SCN5A_ENST00000414099.2_Silent_p.R1620R|SCN5A_ENST00000451551.2_Silent_p.R1584R|SCN5A_ENST00000333535.4_Silent_p.R1638R|SCN5A_ENST00000450102.2_Silent_p.R1584R|SCN5A_ENST00000449557.2_Silent_p.R1584R|SCN5A_ENST00000455624.2_Silent_p.R1605R|SCN5A_ENST00000425664.1_Silent_p.R1620R|SCN5A_ENST00000423572.2_Silent_p.R1637R|SCN5A_ENST00000443581.1_Silent_p.R1637R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGGCCCCTCGGATCAGTCTG	0.587000													9	156					1.12685e-05	1.29736e-05	1	1	0
PYGL	5836	broad.mit.edu	37	14	51401885	51401885	+	Missense_Mutation	SNP	C	C	T	rs144099482	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:51401885C>T	ENST00000216392.7	-	3	696	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PYGL_ENST00000544180.2_Missense_Mutation_p.E88K|PYGL_ENST00000532462.1_Missense_Mutation_p.E122K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	122					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCTTCTAACTCTTCTATATCC	0.418000													4	36					0	0	1	0	0
GPR126	0	broad.mit.edu	37	6	142691627	142691627	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:142691627G>T	ENST00000230173.6	+	4	1242	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	GPR126_ENST00000296932.8_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367608.2_Missense_Mutation_p.V256F|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	256	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V256F(1)|p.V255F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTCTGCCTTGTTTGGAATAA	0.333000													5	59					0.000602214	0.000658672	1	1	0
CPNE9	151835	broad.mit.edu	37	3	9771372	9771372	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:9771372C>T	ENST00000383832.3	+	21	1848	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	553										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCAGCCCTGAGGATTC	0.612000													4	42					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622994	20622994	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20622994C>G	ENST00000525748.1	+	2	596	c.323C>G	c.(322-324)cCt>cGt	p.P108R		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	108					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)	GCCTCGCCCCCTCCCGGGAGC	0.697000													3	23					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421037	11421037	+	RNA	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:11421037C>T	ENST00000381842.3	-	0	183				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGGTGGGGTACGTTGGGGCTG	0.582000													53	163					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	9					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11317020	11317020	+	Splice_Site	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:11317020C>A	ENST00000379261.4	+	8	849	c.756_splice	c.e8-1	p.L253_splice	CELF2_ENST00000399850.3_Splice_Site_p.L229_splice|CELF2_ENST00000417956.2_Splice_Site_p.L229_splice|CELF2_ENST00000416382.2_Splice_Site_p.L253_splice|CELF2_ENST00000354440.2_Splice_Site_p.L229_splice|CELF2_ENST00000450189.1_Splice_Site_p.L260_splice|CELF2_ENST00000542579.1_Splice_Site_p.L260_splice|CELF2_ENST00000427450.1_Splice_Site_p.L229_splice|CELF2_ENST00000354897.3_Splice_Site_p.L229_splice|CELF2_ENST00000537122.1_Splice_Site_p.L142_splice|CELF2_ENST00000315874.3_Splice_Site_p.L229_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	253	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCATCCGCAGCTCCTGCAGCA	0.527000													26	129					1.5548e-18	1.9435e-18	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70074167	70074167	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:70074167T>A	ENST00000446444.1	-	3	912	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	302					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACACCATTTTCTCCAGAG	0.423000													12	177					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242189366	242189366	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242189366A>C	ENST00000391975.1	-	12	1629	c.1402T>G	c.(1402-1404)Tcc>Gcc	p.S468A	HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	468	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGCGCACGGACACCTTGTAC	0.517000													7	115					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803632	137803632	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:137803632G>A	ENST00000239938.4	+	2	1766	c.1494G>A	c.(1492-1494)acG>acA	p.T498T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	498					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCCACCACGTACTCCTCTG	0.637000													18	226					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245953	166245953	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166245953G>T	ENST00000375437.2	+	27	5927	c.5637G>T	c.(5635-5637)atG>atT	p.M1879I	SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1879					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATACAGATGGAAGAGCGAT	0.463000													4	81					2.56e-06	3.00671e-06	1	1	0
TTC18	118491	broad.mit.edu	37	10	75029381	75029381	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:75029381G>A	ENST00000401621.2	-	26	3348	c.3228C>T	c.(3226-3228)gtC>gtT	p.V1076V	TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Silent_p.V545V|TTC18_ENST00000340329.3_Silent_p.V316V|TTC18_ENST00000310715.3_Silent_p.V1076V|TTC18_ENST00000394865.1_Silent_p.V1046V			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1076							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTTCAGGCAGACCAGAGCCA	0.483000													7	66					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182587060	182587060	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587060C>T	ENST00000323116.5	+	17	2067	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	603					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCAATTCTCCCTAAATGTAT	0.284000													4	21					0	0	1	0	0
AC007275.2	0	broad.mit.edu	37	Y	7644671	7644671	+	RNA	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrY:7644671G>T	ENST00000442584.2	-	0	490																											GAGAAGCCCTGTTGGTACAGC	0.577000													3	3					0.004672	0.0049253	1	1	0
SELP	6403	broad.mit.edu	37	1	169582313	169582313	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:169582313A>G	ENST00000263686.6	-	5	666	c.629T>C	c.(628-630)cTc>cCc	p.L210P	SELP_ENST00000367792.2_Missense_Mutation_p.L210P|SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	210	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCAGTTCATGAGCACGTGTTG	0.463000													14	57					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885066	50885066	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:50885066C>T	ENST00000404795.3	-	3	1292	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DMRTA2_ENST00000418121.1_Silent_p.A300A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	300	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CTGGCGCCGGCGCGGCCTCAC	0.721000													9	111					0	0	1	0	0
TRGV2	0	broad.mit.edu	37	7	38403051	38403051	+	RNA	SNP	G	G	C	rs4993385	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:38403051G>C	ENST00000426402.2	-	0	68																											GTAGGAGGAGGTGGTCTTCCT	0.527000													5	9					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446703	85446703	+	Silent	SNP	G	G	A	rs114400107	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:85446703G>A	ENST00000369663.5	-	8	1861	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	508					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F508F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGTTAGTGGCGAAGGCATTGC	0.507000													16	196					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995624	57995624	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:57995624C>A	ENST00000316770.2	-	1	766	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGGAGAAGGCCCGGCGGCGG	0.627000													7	92					0.0381472	0.0388126	1	1	0
SSMEM1	136263	broad.mit.edu	37	7	129853359	129853359	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129853359A>T	ENST00000297819.3	+	2	274	c.223A>T	c.(223-225)Act>Tct	p.T75S		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		TGGGACAAGTACTTCAGTAAG	0.408000													5	66					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30409476	30409476	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30409476G>T	ENST00000375994.2	+	3	981	c.708G>T	c.(706-708)gaG>gaT	p.E236D	MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	236					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCCTCAGAGAAATCCGAGG	0.632000													22	118					4.26978e-12	5.22525e-12	1	1	0
SPEG	10290	broad.mit.edu	37	2	220350132	220350132	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220350132A>G	ENST00000312358.7	+	31	7806	c.7674A>G	c.(7672-7674)ttA>ttG	p.L2558L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2558					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACAAGGGGTTATCGCCACCAA	0.612000													4	107					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748316	126748316	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:126748316A>G	ENST00000393409.2	+	26	4807	c.4807A>G	c.(4807-4809)Aag>Gag	p.K1603E	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1580E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1603					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGGTGCCCAAGCAGACGTC	0.667000													11	178					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477088	128477088	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128477088C>A	ENST00000322313.4	-	16	2669	c.2511G>T	c.(2509-2511)caG>caT	p.Q837H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	837					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGGAGGCCCCTGCATGCCTC	0.632000													22	37					1.96292e-10	2.36904e-10	1	1	0
ATP11B	23200	broad.mit.edu	37	3	182587059	182587059	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587059C>T	ENST00000323116.5	+	17	2066	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	602					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATCAATTCTCCCTAAATGTA	0.284000													4	20					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30897748	30897748	+	Silent	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30897748C>G	ENST00000375712.3	+	2	335	c.168C>G	c.(166-168)acC>acG	p.T56T		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	56	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCCCAAGACCTTCACCTTTG	0.498000													5	61					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648324	112648324	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:112648324G>T	ENST00000471858.1	-	3	396	c.164C>A	c.(163-165)aCa>aAa	p.T55K	CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	55	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CACAGCATTTGTAGCCATCTT	0.383000													4	93					0.000602214	0.000658672	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063581	48063581	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48063581C>G	ENST00000316364.5	+	19	3260	c.2821C>G	c.(2821-2823)Cca>Gca	p.P941A	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	941					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			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)		CAGAAATAGCCCAACCAAGCG	0.517000													5	161					0	0	1	0	0
TMEM86B	255043	broad.mit.edu	37	19	55739730	55739730	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:55739730C>A	ENST00000327042.4	-	2	649	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	43					ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GACAGCTGGTCCTCGGGAATC	0.637000													4	42					1	1	1	1	0
ALDH5A1	7915	broad.mit.edu	37	6	24503566	24503566	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:24503566C>T	ENST00000357578.3	+	3	659	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144C|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84C|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172C	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	172					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TGAGGAAGCCCGCCGTGTTTA	0.537000													7	47					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43793008	43793008	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:43793008T>A	ENST00000389420.3	-	29	4312	c.4313A>T	c.(4312-4314)aAg>aTg	p.K1438M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1438	TSP type-1 11.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACGGTACTTTCTACCTTT	0.348000													3	1					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2997554	2997554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:2997554C>T	ENST00000489288.2	+	3	798	c.646C>T	c.(646-648)Cga>Tga	p.R216*	RHNO1_ENST00000461997.2_Nonsense_Mutation_p.R202*|RHNO1_ENST00000464682.2_3'UTR	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		ATGGAGGAGACGACAGCACCT	0.498000													11	53					0	0	1	0	0
DEPDC1	55635	broad.mit.edu	37	1	68944925	68944925	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:68944925C>A	ENST00000456315.2	-	10	2128	c.2014G>T	c.(2014-2016)Gtt>Ttt	p.V672F	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	672					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAAGAAACTAATCTTCCA	0.353000													6	47					3.59834e-05	4.08902e-05	1	1	0
C10orf76	79591	broad.mit.edu	37	10	103649193	103649193	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:103649193G>A	ENST00000370033.4	-	24	1955	c.1836C>T	c.(1834-1836)caC>caT	p.H612H	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	612						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTTGGGATATGTGATTCACAG	0.473000													5	325					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160850469	160850469	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:160850469C>T	ENST00000326245.3	-	6	709	c.594G>A	c.(592-594)aaG>aaA	p.K198K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	198	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGTCCAACACTTTCCTTCTC	0.458000													8	142					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18205596	18205596	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:18205596T>C	ENST00000321105.5	-	7	1010	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	266					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGTGGAAGATTTCTGGTACA	0.527000													10	41					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242573471	242573471	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242573471C>T	ENST00000407315.1	-	2	532	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	34							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TTGGATTAGACGTTTTGAGTC	0.368000													7	93					0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3334135	3334135	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:3334135C>A	ENST00000219069.5	+	1	1193	c.317C>A	c.(316-318)cCg>cAg	p.P106Q	ZNF263_ENST00000573578.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Missense_Mutation_p.P106Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GAGCTGCATCCGGAGAGCGGC	0.562000													6	95					3.59834e-05	4.08902e-05	1	1	0
ACP5	54	broad.mit.edu	37	19	11687381	11687381	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11687381G>A	ENST00000592828.1	-	6	814	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	ACP5_ENST00000218758.5_Missense_Mutation_p.R138C|ACP5_ENST00000433365.2_Missense_Mutation_p.R138C|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.R138C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	138					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AAGTGCAGGCGGTAGAAAGGG	0.562000													19	41					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10248872	10248872	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:10248872A>T	ENST00000418404.3	-	13	1488	c.1325T>A	c.(1324-1326)gTc>gAc	p.V442D	MYH13_ENST00000570743.1_Missense_Mutation_p.V442D|MYH13_ENST00000252172.4_Missense_Mutation_p.V442D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATGCGGGTGACCATCCACAG	0.522000													10	135					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71300700	71300700	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:71300700A>T	ENST00000418807.3	+	5	566	c.402A>T	c.(400-402)aaA>aaT	p.K134N	NAGK_ENST00000455662.2_Missense_Mutation_p.K231N|NAGK_ENST00000244204.5_Missense_Mutation_p.K185N			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	185					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTACGTCAAACAGGCCATGT	0.522000													27	219					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988496	33988496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:33988496C>T	ENST00000389232.4	+	39	6008	c.5938C>T	c.(5938-5940)Cga>Tga	p.R1980*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1980*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1980	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1980*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGCTGGTCCGAATGATGTT	0.562000													13	64					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109274248	109274248	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:109274248C>T	ENST00000392644.4	+	13	1777	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	537							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TTTAGTCGTCCGTGTTGTTTT	0.398000													4	13					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351872	132351872	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:132351872G>A	ENST00000310125.4	-	1	504	c.416C>T	c.(415-417)gCc>gTc	p.A139V		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	139						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTGAACTTGGCGACCAGCTC	0.552000													4	47					0	0	1	0	0
CTSZ	1522	broad.mit.edu	37	20	57576623	57576623	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:57576623G>A	ENST00000217131.5	-	3	502	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	128					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			AGGAGCCAGCGTTACCGCAGT	0.602000													4	73					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78443391	78443391	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:78443391T>C	ENST00000278550.7	-	21	3570	c.3108A>G	c.(3106-3108)gcA>gcG	p.A1036A		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GGCCTTTCTCTGCACAGGAGC	0.527000													22	53					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749588	80749588	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:80749588T>C	ENST00000458043.2	+	46	5645	c.5639T>C	c.(5638-5640)cTa>cCa	p.L1880P	OTOGL_ENST00000547103.1_Missense_Mutation_p.L1868P	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAATGCACTCTATACAAATGT	0.448000													10	85					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4170156	4170156	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:4170156C>G	ENST00000602147.1	+	6	814	c.734C>G	c.(733-735)tCa>tGa	p.S245*	CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000078445.2_Missense_Mutation_p.Q281E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCACTGCTCAGAATCAGGA	0.562000													6	107					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21258471	21258471	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:21258471A>G	ENST00000233242.1	-	7	930	c.803T>C	c.(802-804)cTg>cCg	p.L268P	APOB_ENST00000399256.4_Missense_Mutation_p.L268P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	268	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAGAAAGGCAGGAAGAGGTG	0.493000													4	60					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11233932	11233932	+	Silent	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11233932A>T	ENST00000558518.1	+	15	2410	c.2223A>T	c.(2221-2223)acA>acT	p.T741T	LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000558013.1_Silent_p.T741T|LDLR_ENST00000455727.2_Silent_p.T573T|LDLR_ENST00000557933.1_Silent_p.T741T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	741	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACAGCACACAACCACCCGAC	0.582000													9	83					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220473351	220473351	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220473351G>T	ENST00000456909.1	+	15	1740	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGCCTGAGGGCGTACGGG	0.602000													3	54					0.004672	0.0049253	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77390917	77390917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:77390917G>T	ENST00000451710.3	-	24	3522	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1095*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1095					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTCTCGTGGTAGGTCATGA	0.522000													6	113					0.00116845	0.00127005	1	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134488181	134488181	+	Silent	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:134488181G>C	ENST00000319914.5	-	4	1114	c.87C>G	c.(85-87)tcC>tcG	p.S29S	ST3GAL1_ENST00000521180.1_Silent_p.S29S|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000399640.2_Silent_p.S29S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	29					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCATGGTGTGGGAGTAGTTCA	0.572000													4	125					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72298723	72298723	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:72298723C>T	ENST00000263563.6	+	13	1796	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCGGCGGGTGCCCCGCATGCC	0.692000													5	134					0	0	1	0	0
HIPK3	10114	broad.mit.edu	37	11	33370281	33370281	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:33370281C>A	ENST00000303296.4	+	13	2888	c.2583C>A	c.(2581-2583)gaC>gaA	p.D861E	HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E|HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	861	Interaction with AR (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTATTGCCGACTCCCCGAGTC	0.473000													7	98					0.00307968	0.0033064	1	1	0
TENM2	57451	broad.mit.edu	37	5	167642135	167642135	+	Silent	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:167642135C>G	ENST00000519204.1	+	20	3691	c.3573C>G	c.(3571-3573)cgC>cgG	p.R1191R	TENM2_ENST00000518659.1_Silent_p.R1312R|TENM2_ENST00000545108.1_Silent_p.R1311R|TENM2_ENST00000520394.1_Silent_p.R1073R|TENM2_ENST00000403607.2_Silent_p.R1136R					teneurin transmembrane protein 2																		GAATCTACCGCGTCAAGTCTC	0.567000													6	102					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107827592	107827592	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:107827592G>A	ENST00000317357.5	+	3	1041	c.382G>A	c.(382-384)Gta>Ata	p.V128I		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	128							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCCATTATTGTACCTTTAAT	0.423000													17	162					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408169	30408169	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30408169C>T	ENST00000375994.2	+	2	566	c.293C>T	c.(292-294)cCc>cTc	p.P98L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	98					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGCCCTGCCCCAGCAGACT	0.687000													7	40					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72511284	72511284	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:72511284C>T	ENST00000373208.1	+	17	2487	c.2487C>T	c.(2485-2487)taC>taT	p.Y829Y	ADAMTS14_ENST00000373207.1_Silent_p.Y826Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	826	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTACAAGTACGTCATCCATG	0.627000													5	124					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924707	188924707	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:188924707T>G	ENST00000326866.4	+	4	1154	c.746T>G	c.(745-747)tTt>tGt	p.F249C	ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	249					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGTGCACTTTTGAAGGGTGC	0.517000													13	59					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16071443	16071443	+	Silent	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:16071443G>T	ENST00000352083.6	-	11	1370	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000528429.1_Silent_p.P431P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463000													13	255					9.31168e-06	1.08636e-05	1	1	0
OTOA	146183	broad.mit.edu	37	16	21690532	21690532	+	Splice_Site	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:21690532G>T	ENST00000388958.3	+	4	180	c.179_splice	c.e4+1	p.S60_splice	OTOA_ENST00000286149.4_Splice_Site_p.S60_splice	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	60					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTTTCAAAGGTAAAATGCC	0.343000													6	55					0.0293803	0.0300676	1	1	0
OCM2	4951	broad.mit.edu	37	7	97614280	97614280	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:97614280A>G	ENST00000257627.4	-	4	411	c.320T>C	c.(319-321)gTg>gCg	p.V107A		NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	107	EF-hand 2.						calcium ion binding			lung(4)	4						TTAAGAATGCACCATTTCCTG	0.498000													15	20					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328640	88328640	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:88328640G>C	ENST00000325089.6	+	2	1216	c.997G>C	c.(997-999)Ggg>Cgg	p.G333R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	333						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCCTAAGGGGACTCGCCA	0.582000													4	161					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83037758	83037758	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:83037758T>C	ENST00000307792.3	-	6	1063	c.596A>G	c.(595-597)gAc>gGc	p.D199G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	199	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATCGCAGCGTCTCTGCTCCA	0.458000													12	21					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228786194	228786194	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:228786194G>A	ENST00000309931.2	+	12	1213	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	DAW1_ENST00000373666.2_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.G362D	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		GCTCAGACTGGCCAGTGCCTC	0.433000													12	61					0	0	1	0	0
IL9	3578	broad.mit.edu	37	5	135228145	135228145	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:135228145A>G	ENST00000274520.1	-	5	380	c.370T>C	c.(370-372)Ttt>Ctt	p.F124L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	124					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCTTCAGAAATGTCAGCGCG	0.378000													7	47					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394177	17394177	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:17394177A>G	ENST00000394458.3	+	5	880	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E|ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	202						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AACTGTGGACAAACATGGGAG	0.602000													5	125					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3984203	3984203	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:3984203C>G	ENST00000309311.6	-	2	237	c.149G>C	c.(148-150)cGg>cCg	p.R50P	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	50						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCGGCCCGGGCCGAGGC	0.622000													32	121					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33324773	33324773	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:33324773C>T	ENST00000378526.4	+	12	1973	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	614					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTGTGAGCGGCGGAAGTTTCT	0.488000								Other BER factors					6	62					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157804437	157804437	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:157804437A>T	ENST00000368174.4	-	4	574	c.478T>A	c.(478-480)Tat>Aat	p.Y160N		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	160	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACACGGTATACCACTGGTTC	0.617000													21	127					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45389131	45389131	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr21:45389131C>T	ENST00000398063.2	+	4	973	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	AGPAT3_ENST00000398061.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R161C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R161C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R161C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	161					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGGCTGAGGCGCCTGTCGGA	0.637000													4	131					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999165	92999165	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:92999165G>C	ENST00000523629.1	-	8	1481	c.1027C>G	c.(1027-1029)Cac>Gac	p.H343D	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	343	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H306N(1)|p.H354N(1)|p.H343N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTTAGTCTGTGATCAATCATT	0.388000													8	171					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143587109	143587109	+	Splice_Site	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:143587109C>G	ENST00000507359.2	+	2	1923	c.832_splice	c.e2+1	p.R278_splice	KCTD16_ENST00000512467.1_Splice_Site_p.R278_splice	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	278						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTCTTCTACCGTAAGTACAA	0.393000													5	65					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62212501	62212501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:62212501A>T	ENST00000261517.5	-	57	7315	c.7242T>A	c.(7240-7242)ttT>ttA	p.F2414L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2414					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGAGTAGTCAAAAGTAGAAG	0.373000													4	36					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361057	107361057	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:107361057A>T	ENST00000374779.2	-	1	731	c.638T>A	c.(637-639)tTa>tAa	p.L213*		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GACAATAATTAATAACAAAGG	0.423000													8	176					0	0	1	0	0
LINC00933	0	broad.mit.edu	37	15	85121267	85121267	+	RNA	SNP	C	C	T	rs144259916	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:85121267C>T	ENST00000557887.1	+	0	467					NR_038273.1|NR_038274.1																						GGAGGCCAGCCGAACACACAG	0.473000													4	57					0	0	1	0	0
AMDHD1	144193	broad.mit.edu	37	12	96354372	96354372	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:96354372G>T	ENST00000266736.2	+	5	890	c.784G>T	c.(784-786)Gat>Tat	p.D262Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	262					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTTCCATGGGGATGAACTCCA	0.408000													14	87					1.5739e-10	1.91272e-10	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	140					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103736	52103736	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:52103736G>A	ENST00000361781.2	-	7	1098	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	53	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.P47T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CACAAGGGGGGTTTTTTGAAA	0.512000													7	72					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585163	158585163	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:158585163G>A	ENST00000368148.3	-	48	6811	c.6631C>T	c.(6631-6633)Cgt>Tgt	p.R2211C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2208C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2211					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTAGTTGACGCTTCATCGCC	0.478000													30	124					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42038168	42038168	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42038168A>T	ENST00000220809.4	-	10	1181	c.925T>A	c.(925-927)Ttt>Att	p.F309I	PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I|PLAT_ENST00000270189.6_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	309					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGATGCGAAACTGAGGCTGG	0.632000													6	58					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592950	38592950	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592950C>A	ENST00000413689.1	-	28	5106	c.4913G>T	c.(4912-4914)cGa>cTa	p.R1638L	SCN5A_ENST00000414099.2_Missense_Mutation_p.R1620L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1638L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1605L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1620L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1637L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1637L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGGCCCCTCGGATCAGTCT	0.592000													8	158					0.00307968	0.0033064	1	1	0
SALL1	6299	broad.mit.edu	37	16	51173806	51173806	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:51173806G>A	ENST00000440970.1	-	2	2467	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T776M	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACAGCGTTCGTGAACTTCTT	0.557000													12	73					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169507217	169507217	+	Silent	SNP	G	G	A	rs148811648	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:169507217G>A	ENST00000256935.8	+	50	5297	c.5217G>A	c.(5215-5217)gcG>gcA	p.A1739A	DOCK2_ENST00000520908.1_Silent_p.A1231A|DOCK2_ENST00000540750.1_Silent_p.A800A|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGAGCATGCGGCCATCCCCC	0.557000													5	76					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177927436	177927436	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:177927436T>A	ENST00000308284.6	-	10	1285	c.1196A>T	c.(1195-1197)tAc>tTc	p.Y399F	SEC16B_ENST00000464631.1_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	399					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCCGCTTGTACTTCTCCAG	0.572000													9	33					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45773897	45773897	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:45773897A>G	ENST00000263736.4	-	14	1910	c.1848T>C	c.(1846-1848)taT>taC	p.Y616Y	SRBD1_ENST00000535761.1_Silent_p.Y135Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	616					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTGGTGCAAAATAATTCTTCA	0.403000													3	65					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654328	61654328	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:61654328G>C	ENST00000423902.2	+	2	816	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	CHD7_ENST00000524602.1_Missense_Mutation_p.V113L|CHD7_ENST00000525508.1_Missense_Mutation_p.V113L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	113					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGTTCCTCAGGTGCCCCATGG	0.592000													7	34					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480801	57480801	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:57480801C>T	ENST00000371236.2	-	12	1462	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N	DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000371231.1_Missense_Mutation_p.S433N|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	433					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGTCTGTGGACTTGACCTGGT	0.592000													8	89					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40313180	40313180	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:40313180A>G	ENST00000263791.5	+	31	4297	c.4254A>G	c.(4252-4254)aaA>aaG	p.K1418K	EIF2AK4_ENST00000382727.2_Silent_p.K1390K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1418	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TAACCCAGAAACTCTGGACAG	0.478000													5	68					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201438669	201438669	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:201438669A>C	ENST00000357799.4	+	7	3698	c.3600A>C	c.(3598-3600)aaA>aaC	p.K1200N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1200					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.K1200N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAATTTAAAGTCAACCGGA	0.318000													4	58					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182586927	182586927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182586927C>T	ENST00000323116.5	+	16	2010	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	584					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTAATTGTTCAGGCACCTTC	0.299000													3	29					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104046416	104046416	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:104046416A>G	ENST00000388887.2	+	12	1544	c.1340A>G	c.(1339-1341)tAt>tGt	p.Y447C		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	447	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACATCGAATATATGAATAAC	0.403000													9	29					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183669276	183669276	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:183669276G>A	ENST00000334444.6	-	20	3137	c.2897C>T	c.(2896-2898)aCc>aTc	p.T966I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	966	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCTGTGGGGGTCGTGTCAAA	0.512000													5	93					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31746867	31746867	+	Silent	SNP	C	C	T	rs144020989		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:31746867C>T	ENST00000342032.3	+	5	1066	c.438C>T	c.(436-438)gaC>gaT	p.D146D	PPP1R17_ENST00000498609.1_3'UTR|PPP1R17_ENST00000409146.3_Silent_p.D95D	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	146					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TGGAAGATGACGAAAAGGATG	0.408000													5	29					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661075	90661075	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:90661075G>A	ENST00000257749.4	-	7	1457	c.750C>T	c.(748-750)acC>acT	p.T250T	BACH2_ENST00000537989.1_Silent_p.T250T|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	250						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAAAACCTGAGGTACTGTGTG	0.493000													4	119					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228311	6228311	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:6228311A>T	ENST00000262450.3	-	2	205	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	36					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGTCATCGAAGGCTTCAAGA	0.498000													6	217					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102151047	102151047	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:102151047A>T	ENST00000299314.7	-	18	3639	c.3377T>A	c.(3376-3378)aTt>aAt	p.I1126N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1126					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTTGGTACGAATCATTTTAAA	0.274000													4	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086744	9086744	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:9086744T>A	ENST00000397910.4	-	1	5274	c.5071A>T	c.(5071-5073)Aga>Tga	p.R1691*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATGCTTCTTCCTGGAGCA	0.478000													5	119					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108603946	108603946	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603946C>T	ENST00000332082.4	+	5	1364	c.546C>T	c.(544-546)ggC>ggT	p.G182G	WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTACTGCGGCCACAAGATCC	0.667000													4	53					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696504	17696504	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:17696504T>C	ENST00000399080.2	-	1	3202	c.3179A>G	c.(3178-3180)gAa>gGa	p.E1060G		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTAGGAACTTCCTGTTCTCC	0.348000													3	16					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133740185	133740185	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:133740185T>C	ENST00000356838.3	-	6	620	c.478A>G	c.(478-480)Aag>Gag	p.K160E	TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	179						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCATCTTCCCTGACTCC	0.488000													8	109					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108603945	108603945	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603945G>T	ENST00000332082.4	+	5	1363	c.545G>T	c.(544-546)gGc>gTc	p.G182V	WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCTACTGCGGCCACAAGATC	0.672000													4	53					1	1	1	1	0
CADPS	8618	broad.mit.edu	37	3	62570916	62570916	+	Silent	SNP	A	A	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:62570916A>G	ENST00000383710.4	-	8	1870	c.1521T>C	c.(1519-1521)gaT>gaC	p.D507D	CADPS_ENST00000283269.9_Silent_p.D507D|CADPS_ENST00000357948.3_Silent_p.D507D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	507					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGATTTTGAGATCTTGGTCGG	0.468000													6	119					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31196925	31196925	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:31196925G>T	ENST00000362065.4	+	2	350	c.59G>T	c.(58-60)aGc>aTc	p.S20I	FAN1_ENST00000561607.1_Missense_Mutation_p.S20I|FAN1_ENST00000565466.1_Missense_Mutation_p.S20I|FAN1_ENST00000561594.1_Missense_Mutation_p.S20I	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	20					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTATCAATCAGCAAGAATAAG	0.388000								Direct reversal of damage					4	67					0.00909568	0.0094186	1	1	0
LILRB2	0	broad.mit.edu	37	19	54778668	54778668	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:54778668C>A	ENST00000391748.1	-	14	1790	c.1663G>T	c.(1663-1665)Gcc>Tcc	p.A555S	LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S|LILRB2_ENST00000391749.4_Missense_Mutation_p.A556S|LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	556					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			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)		TCCTGGGGGGCTTCAGATGCA	0.637000													4	81					0.00024832	0.000275038	1	1	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													5	129					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6554725	6554725	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:6554725G>T	ENST00000321612.6	-	19	2409	c.2259C>A	c.(2257-2259)caC>caA	p.H753Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	753					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGAAGGTCTTGTGAAGATTTA	0.542000													3	23					0.00909568	0.0094186	1	1	0
MTHFD1L	25902	broad.mit.edu	37	6	151243383	151243383	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:151243383C>T	ENST00000367321.3	+	10	1301	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	343	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGAACAGCAGCACAGGCGGTG	0.493000													25	61					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120996041	120996041	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:120996041A>T	ENST00000392793.1	+	8	1505	c.1234A>T	c.(1234-1236)Acc>Tcc	p.T412S	TECTA_ENST00000264037.2_Missense_Mutation_p.T412S			O75443	TECTA_HUMAN	tectorin alpha	412	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGCCTGTCACCTTAGACTT	0.498000													9	221					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101759839	101759839	+	Splice_Site	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:101759839C>T	ENST00000251127.6	-	22	2659	c.2579_splice	c.e22+1	p.A860_splice		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	860						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTACTTACGCGTTGAAGCGT	0.502000													8	63					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108754263	108754263	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:108754263G>A	ENST00000232603.5	-	15	1465	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	MORC1_ENST00000483760.1_Silent_p.I461I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	461					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCTCCACATCGATGTCATTCT	0.289000													6	22					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433964	49433964	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:49433964G>A	ENST00000301067.7	-	31	7588	c.7589C>T	c.(7588-7590)aCc>aTc	p.T2530I		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGAGAGGGGGTGCCCACAAA	0.657000													4	37					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848422	166848422	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166848422T>A	ENST00000423058.2	-	26	5380	c.5363A>T	c.(5362-5364)aAc>aTc	p.N1788I	SCN1A_ENST00000303395.4_Missense_Mutation_p.N1788I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1788						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACACTGAAGTTCTCCAGGAT	0.448000													6	161					0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423613	33423613	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:33423613C>T	ENST00000395064.2	+	2	1004	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	246	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGTTTTTCCCCGTCCTCATGG	0.582000													12	60					0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61596500	61596500	+	Silent	SNP	G	G	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:61596500G>C	ENST00000370349.3	+	10	1113	c.909G>C	c.(907-909)acG>acC	p.T303T	SLC17A9_ENST00000370351.4_Silent_p.T309T|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	309					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587000													4	68					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691606	3691606	+	Silent	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:3691606C>T	ENST00000403096.3	+	6	1127	c.636C>T	c.(634-636)gaC>gaT	p.D212D	COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000382062.2_Silent_p.D214D|COLEC11_ENST00000349077.4_Silent_p.D238D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Silent_p.D164D	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	238	C-type lectin.					collagen	mannose binding			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)		ATGCCTACGACGAGGAGGACT	0.592000													7	107					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:7578509A>C	ENST00000420246.2	-	5	553	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCACAGGGCAGGTCTTGGCC	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	31					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56285908	56285908	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:56285908A>C	ENST00000393119.2	-	12	1135	c.1061T>G	c.(1060-1062)gTa>gGa	p.V354G	MKS1_ENST00000546108.1_Missense_Mutation_p.V151G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000337050.7_Missense_Mutation_p.V354G|MKS1_ENST00000537529.2_Missense_Mutation_p.V344G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	354	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTGTGTTACTCCTGAGAG	0.498000													19	35					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38062397	38062397	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:38062397G>A	ENST00000394175.2	-	5	1012	c.789C>T	c.(787-789)ggC>ggT	p.G263G	GSDMB_ENST00000309481.7_Silent_p.G272G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000394179.1_Silent_p.G280G|GSDMB_ENST00000520542.1_Silent_p.G276G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	280						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TATCCTCCTTGCCGAGGCACT	0.517000													10	73					0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14131886	14131886	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:14131886A>C	ENST00000379153.3	+	3	460	c.289A>C	c.(289-291)Act>Cct	p.T97P		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	97	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GATCCGAAACACTACCAGCTG	0.542000													7	122					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20099637	20099637	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20099637G>T	ENST00000396085.1	+	24	5527	c.5166G>T	c.(5164-5166)gaG>gaT	p.E1722D	NAV2_ENST00000396087.3_Missense_Mutation_p.E1778D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D|NAV2_ENST00000311043.8_Missense_Mutation_p.E786D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1778						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACACACCTGAGCTCAACTGCA	0.473000													3	35					6.4e-05	7.17949e-05	1	1	0
GPR98	84059	broad.mit.edu	37	5	89933655	89933655	+	Silent	SNP	T	T	C			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:89933655T>C	ENST00000405460.2	+	11	2226	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	710	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGGCCCCTTTAATGGCTCTG	0.423000													4	41					0	0	1	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184078	26184078	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:26184078G>A	ENST00000356530.3	+	1	121	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	19					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CAAGAAGGCCGTGACCAAGGC	0.547000													4	150					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48780649	48780649	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48780649C>T	ENST00000316623.5	-	26	3579	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1042	EGF-like 15; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGCACTTGCCGTGGGTGCAG	0.458000													7	84					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113675255	113675255	+	Silent	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:113675255G>A	ENST00000263326.3	+	4	351	c.309G>A	c.(307-309)gcG>gcA	p.A103A	IL37_ENST00000353225.3_Silent_p.A63A|IL37_ENST00000311328.2_Silent_p.A77A|IL37_ENST00000352179.3_Silent_p.A82A|IL37_ENST00000349806.3_Silent_p.A42A	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	103					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CAGCCTCTGCGGAGAAAGGAA	0.488000													22	288					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694473	143694473	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:143694473G>A	ENST00000356613.2	-	1	2360	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTGGCCACGGACTCGCTGTT	0.701000													6	24					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597000													5	260					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763905	110763905	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:110763905C>G	ENST00000451085.1	+	4	2123	c.1077C>G	c.(1075-1077)aaC>aaG	p.N359K	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N359K	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	359						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTCTGCCAAACCTCAAGGAAA	0.468000													4	68					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17410083	17410083	+	Silent	SNP	C	C	T	rs114984146	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:17410083C>T	ENST00000262545.2	+	7	939	c.624C>T	c.(622-624)caC>caT	p.H208H	PCSK2_ENST00000377899.1_Silent_p.H189H|PCSK2_ENST00000536609.1_Silent_p.H173H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	208	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAAAGCCACGGGACCCGAT	0.438000													6	130					0	0	1	0	0
UGT1A4	0	broad.mit.edu	37	2	234628298	234628309	+	In_Frame_Del	DEL	GGCATCAACTGT	GGCATCAACTGT	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:234628298_234628309delGGCATCAACTGT	ENST00000373409.3	+	1	875_886	c.832_843delGGCATCAACTGT	c.(832-843)del	p.GINC278del	UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CTTCATTGGGGGCATCAACTGTGCCAACGGGA	0.476													23	229	---	---	---	---					
HSPD1P6	0	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													3	4	---	---	---	---					
SSMEM1	136263	broad.mit.edu	37	7	129856199	129856221	+	Frame_Shift_Del	DEL	ATGGTTGGCGCACCATTCCCGAC	ATGGTTGGCGCACCATTCCCGAC	-	rs140752649	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:129856199_129856221delATGGTTGGCGCACCATTCCCGAC	ENST00000297819.3	+	3	675_697	c.624_646delATGGTTGGCGCACCATTCCCGAC	c.(622-648)gaagfs	p.EWLAHHSRQ208fs		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1									p.R215R(1)									GAACCAACGAATGGTTGGCGCACCATTCCCGACAGAAGCCTTC	0.426													7	208	---	---	---	---					
TRBV29-1	0	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													4	9	---	---	---	---					
HOOK3	84376	broad.mit.edu	37	8	42865543	42865544	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42865543_42865544delAA	ENST00000307602.4	+	19	2034_2035	c.1834_1835delAA	c.(1834-1836)afs	p.K612fs	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	612	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGAGAAAGCCAAAAGTGTAAGT	0.342			T	RET	papillary thyroid								2	4	---	---	---	---					
RP11-114H24.2	0	broad.mit.edu	37	15	78215586	78215587	+	RNA	INS	-	-	T			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:78215586_78215587insT	ENST00000567226.1	-	0	225																											AAAATGAGAAATTTAAAAAAAA	0.441													3	4	---	---	---	---					
RND2	8153	broad.mit.edu	37	17	41177403	41177403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:41177403delG	ENST00000544533.1	+	1	146	c.39delG	c.(37-39)gtfs	p.V13fs	RND2_ENST00000587250.2_Frame_Shift_Del_p.V13fs	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	13					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGTGGTGGTGGGAGACGCAG	0.731													2	4	---	---	---	---