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
KIRREL	55243	broad.mit.edu	37	1	158047896	158047896	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:158047896C>T	ENST00000368173.3	+	3	722	c.318C>T	c.(316-318)gcC>gcT	p.A106A	KIRREL_ENST00000360089.4_Silent_p.A45A|KIRREL_ENST00000359209.6_Silent_p.A106A|KIRREL_ENST00000392272.2_Silent_p.A106A|KIRREL_ENST00000416935.2_Intron	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	106	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGGAGGCCGCCCTGCGCTCTC	0.617000													44	51					0	0	0.000781405	0	0
ASIC4	55515	broad.mit.edu	37	2	220399909	220399909	+	Silent	SNP	C	C	T	rs148110150		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:220399909C>T	ENST00000358078.4	+	6	1487	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G	ASIC4_ENST00000347842.3_Silent_p.G472G			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	472						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGGGTGGGGGCCCTGAGGGCC	0.647000													14	33					0	0	0.000175454	0	0
SACS	26278	broad.mit.edu	37	13	23908832	23908832	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:23908832G>A	ENST00000382298.3	-	10	9771	c.9183C>T	c.(9181-9183)ctC>ctT	p.L3061L	SACS_ENST00000382292.3_Silent_p.L3061L|SACS_ENST00000402364.1_Silent_p.L2311L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3061					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTCTAAAAGGAGATGTTTCA	0.343000													20	33					0	0	0.000229342	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926285	106926285	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:106926285C>T	ENST00000434710.1	-	0	336																											GATGGTGAATCGGCCCTTCAC	0.493000													99	119					0	0	0.000781405	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176911	193176911	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:193176911C>T	ENST00000342695.4	-	14	1955	c.1633G>A	c.(1633-1635)Gga>Aga	p.G545R	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G526R|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G545R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	545					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGAGGGTCTCCCTGGATGGTC	0.547000													49	4					0	0	0.000781405	0	0
SNHG14	104472715	broad.mit.edu	37	15	25457071	25457071	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:25457071C>T	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CCCGAGATTTCCGGCAGGGCC	0.537000													57	63					0	0	0.000781405	0	0
F13B	2165	broad.mit.edu	37	1	197030188	197030188	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:197030188C>T	ENST00000367412.1	-	4	512	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	157	Sushi 3.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTATATAATTCAGGAGCCAAA	0.269000													9	14					0	0	0.000274275	0	0
PTPRT	11122	broad.mit.edu	37	20	40944562	40944562	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:40944562G>A	ENST00000373198.3	-	12	2175	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	647	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACGGGCACCGAAAAGCACTC	0.517000													35	48					0	0	0.000814825	0	0
KIRREL	55243	broad.mit.edu	37	1	158047897	158047897	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:158047897C>T	ENST00000368173.3	+	3	723	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	KIRREL_ENST00000360089.4_Silent_p.L46L|KIRREL_ENST00000359209.6_Silent_p.L107L|KIRREL_ENST00000392272.2_Silent_p.L107L|KIRREL_ENST00000416935.2_Intron	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	107	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGAGGCCGCCCTGCGCTCTCG	0.617000													43	52					0	0	0.000781405	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914532	39914532	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:39914532C>T	ENST00000425673.1	+	17	2997	c.2672C>T	c.(2671-2673)tCc>tTc	p.S891F	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S861F|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S920F			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	920					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACATGTTTCCAATTTGCCT	0.592000													41	38					0	0	0.000680045	0	0
CFHR5	81494	broad.mit.edu	37	1	196953220	196953220	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:196953220C>T	ENST00000367414.5	+	3	511	c.455C>T	c.(454-456)tCg>tTg	p.S152L	CFHR5_ENST00000256785.4_Missense_Mutation_p.S128L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	128	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAAACATTTCGTGTGTAGAA	0.378000													17	29					0	0	0.000132079	0	0
TINAGL1	64129	broad.mit.edu	37	1	32043041	32043041	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:32043041C>T	ENST00000271064.7	+	2	368	c.292C>T	c.(292-294)Cct>Tct	p.P98S	TINAGL1_ENST00000441210.2_Missense_Mutation_p.P98S|TINAGL1_ENST00000457433.2_Missense_Mutation_p.P98S|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Missense_Mutation_p.P98S	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	98	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGTGCCACCCCCTTTTCCCCC	0.602000													43	48					0	0	0.000781405	0	0
PXDNL	137902	broad.mit.edu	37	8	52370110	52370110	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:52370110G>A	ENST00000356297.4	-	9	1030	c.930C>T	c.(928-930)tcC>tcT	p.S310S	PXDNL_ENST00000543296.1_Silent_p.S310S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	310	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTCCCCAGCGGAATTTCTGG	0.433000													35	58					0	0	0.00058488	0	0
ZNF211	10520	broad.mit.edu	37	19	58152816	58152816	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:58152816C>T	ENST00000544273.1	+	5	1325	c.998C>T	c.(997-999)tCg>tTg	p.S333L	ZNF211_ENST00000240731.4_Missense_Mutation_p.S334L|ZNF211_ENST00000391703.3_Missense_Mutation_p.S260L|ZNF211_ENST00000254182.7_Missense_Mutation_p.S312L|ZNF211_ENST00000347302.3_Missense_Mutation_p.S321L|ZNF211_ENST00000420680.1_Missense_Mutation_p.S325L|ZNF211_ENST00000541801.1_Missense_Mutation_p.S312L|ZNF211_ENST00000299871.5_Missense_Mutation_p.S386L			Q13398	ZN211_HUMAN	zinc finger protein 211	321						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGAAATCGTTTAGTCAG	0.413000													24	40					0	0	0.00047179	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040438	128040438	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:128040438G>A	ENST00000338791.6	-	8	1085	c.735C>T	c.(733-735)tcC>tcT	p.S245S	IMPDH1_ENST00000343214.4_Silent_p.S135S|IMPDH1_ENST00000419067.2_Silent_p.S212S|IMPDH1_ENST00000470772.1_Silent_p.S159S|IMPDH1_ENST00000354269.5_Silent_p.S235S|IMPDH1_ENST00000378717.4_Silent_p.S176S|IMPDH1_ENST00000480861.1_Silent_p.S155S|IMPDH1_ENST00000496200.1_Silent_p.S135S|IMPDH1_ENST00000348127.6_Silent_p.S209S	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	160					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CGATGTCTCGGGAGGTGACGA	0.617000													13	10					0	0	0.000151284	0	0
CLCN4	1183	broad.mit.edu	37	X	10188760	10188760	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:10188760G>A	ENST00000380833.4	+	12	2426	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	CLCN4_ENST00000421085.2_Missense_Mutation_p.E585K|CLCN4_ENST00000380829.1_Missense_Mutation_p.E648K	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	679						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCACGGAGGAACCCCCCGA	0.567000													57	79					0	0	0.000781405	0	0
FCRL3	115352	broad.mit.edu	37	1	157667100	157667100	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:157667100T>C	ENST00000368184.3	-	6	965	c.674A>G	c.(673-675)cAa>cGa	p.Q225R	FCRL3_ENST00000368186.5_Missense_Mutation_p.Q225R|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	225	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGGGAGAATTGCAGCTGGAC	0.592000													32	31					0	0	0.00058488	0	0
PGAP2	27315	broad.mit.edu	37	11	3845364	3845364	+	Splice_Site	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:3845364C>T	ENST00000278243.4	+	4	801	c.601_splice	c.e4+1	p.F200_splice	PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000396993.4_Splice_Site_p.H93_splice|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396986.2_Splice_Site_p.F196_splice|PGAP2_ENST00000396991.2_Splice_Site_p.F200_splice|PGAP2_ENST00000465307.2_Splice_Site_p.H143_splice|PGAP2_ENST00000300730.6_Splice_Site_p.F196_splice|PGAP2_ENST00000463452.2_Splice_Site_p.F139_splice|PGAP2_ENST00000493547.2_Splice_Site_p.F139_splice|PGAP2_ENST00000479072.1_5'UTR	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	200					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CCGAGGACTTCAGTGGGTGCC	0.607000													18	0					0	0	0.000566183	0	0
UGGT2	55757	broad.mit.edu	37	13	96543157	96543157	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:96543157G>A	ENST00000376747.3	-	25	2987	c.2917C>T	c.(2917-2919)Cca>Tca	p.P973S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	973					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTTGTTAATGGATCAACAATA	0.274000													10	10					0	0	0.000219431	0	0
IFT88	8100	broad.mit.edu	37	13	21217681	21217681	+	Silent	SNP	T	T	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:21217681T>A	ENST00000382778.4	+	20	2915	c.1797T>A	c.(1795-1797)tcT>tcA	p.S599S	IFT88_ENST00000537103.1_Silent_p.S571S|IFT88_ENST00000351808.5_Silent_p.S590S|IFT88_ENST00000319980.6_Silent_p.S599S			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	599					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAGTTTTATCTAAGCTAGGAG	0.353000													38	35					0	0	0.00111076	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864356	102864356	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:102864356C>T	ENST00000372628.1	+	3	722	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.P122S|TCEAL3_ENST00000243286.3_Missense_Mutation_p.P122S			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGACGATTCCCCCAAGGACTC	0.552000													89	275					0	0	0.000781405	0	0
NME8	51314	broad.mit.edu	37	7	37907434	37907434	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:37907434G>A	ENST00000199447.4	+	11	1124	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R251Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	251	NDK 1.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCTAACGAACGATCTGAGGAT	0.443000													14	14					0	0	0.000151284	0	0
ZNF835	90485	broad.mit.edu	37	19	57175863	57175863	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:57175863G>A	ENST00000537055.2	-	2	935	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TATCAGGGACGAGCGGTTGCG	0.697000													11	10					0	0	0.000978159	0	0
CHD9	80205	broad.mit.edu	37	16	53358296	53358296	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:53358296G>A	ENST00000566029.1	+	39	8344	c.8135G>A	c.(8134-8136)gGa>gAa	p.G2712E	CHD9_ENST00000564845.1_Missense_Mutation_p.G2712E|CHD9_ENST00000398510.3_Missense_Mutation_p.G2728E|CHD9_ENST00000447540.1_Missense_Mutation_p.G2713E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2728					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTGGGCATGGGAGGACTCCTG	0.493000													7	22					0	0	0.000274275	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													8	73					0	0	0.000274275	0	0
COL4A6	1288	broad.mit.edu	37	X	107415699	107415699	+	Splice_Site	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107415699C>A	ENST00000334504.7	-	32	3435	c.3202_splice	c.e32+1	p.G1068_splice	COL4A6_ENST00000372216.4_Splice_Site_p.G1069_splice|COL4A6_ENST00000394872.2_Splice_Site_p.G1069_splice|COL4A6_ENST00000545689.1_Splice_Site_p.G1068_splice|COL4A6_ENST00000538570.1_Splice_Site_p.G1068_splice	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1069	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGCTCCTTACCTTTCAGGCCT	0.418000									Alport syndrome with Diffuse Leiomyomatosis				87	250					8.34767e-46	1.32772e-44	0.000781405	1	0
HNRNPUL2-BSCL2	100534595	broad.mit.edu	37	11	62474739	62474739	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:62474739C>T	ENST00000403734.2	-	14	2448	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	BSCL2_ENST00000433053.1_5'UTR|BSCL2_ENST00000405837.1_5'UTR|BSCL2_ENST00000360796.5_5'UTR																							AAGTGGCGATCCAGACGCTGA	0.488000													102	111					0	0	0.000781405	0	0
OR14J1	442191	broad.mit.edu	37	6	29274667	29274667	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:29274667G>A	ENST00000377160.2	+	1	265	c.201G>A	c.(199-201)ctG>ctA	p.L67L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCTCTCTTCTGGACCTCTGCT	0.468000													100	87					0	0	0.000781405	0	0
EPRS	2058	broad.mit.edu	37	1	220170519	220170519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:220170519G>A	ENST00000366923.3	-	18	2616	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	783	3 X 57 AA approximate repeats.|WHEP-TRS 1.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GACAAAAGCTGTTTTACAGCT	0.393000													40	39					0	0	0.000270559	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472590	70472590	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70472590G>A	ENST00000373998.1	-	2	1213	c.516C>T	c.(514-516)tcC>tcT	p.S172S	ZMYM3_ENST00000373981.1_Silent_p.S172S|ZMYM3_ENST00000373978.1_Silent_p.S172S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.S172S|ZMYM3_ENST00000373988.1_Silent_p.S172S|ZMYM3_ENST00000373984.3_Silent_p.S172S|ZMYM3_ENST00000314425.5_Silent_p.S172S|ZMYM3_ENST00000353904.2_Silent_p.S172S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	172					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTGCCCAGGGGAGCCCCTTC	0.572000													11	70					0	0	0.000151284	0	0
NSDHL	50814	broad.mit.edu	37	X	152037407	152037407	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:152037407C>T	ENST00000370274.3	+	8	1063	c.869C>T	c.(868-870)gCc>gTc	p.A290V	NSDHL_ENST00000440023.1_Missense_Mutation_p.A290V	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	290					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AATTATGAGGCCCCCAAGTAC	0.557000													75	331					0	0	0.000781405	0	0
CCDC91	55297	broad.mit.edu	37	12	28460621	28460621	+	Missense_Mutation	SNP	G	G	A	rs148160409		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:28460621G>A	ENST00000545336.1	+	9	934	c.515G>A	c.(514-516)gGc>gAc	p.G172D	CCDC91_ENST00000381259.1_Missense_Mutation_p.G172D|CCDC91_ENST00000306172.5_Missense_Mutation_p.G142D|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.G172D|CCDC91_ENST00000539107.1_Missense_Mutation_p.G172D			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	172					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTAGAAAAAGGCTTTCTAAAA	0.279000													3	8					0	0	0.00024832	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407659	1407659	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:1407659G>A	ENST00000381524.3	+	6	537	c.351G>A	c.(349-351)gaG>gaA	p.E117E	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Silent_p.E117E|CSF2RA_ENST00000381509.3_Silent_p.E117E|CSF2RA_ENST00000432318.2_Silent_p.E117E|CSF2RA_ENST00000355805.2_Silent_p.E117E|CSF2RA_ENST00000361536.3_Silent_p.E117E|CSF2RA_ENST00000417535.2_Silent_p.E117E|CSF2RA_ENST00000355432.3_Silent_p.E117E|CSF2RA_ENST00000381500.1_Silent_p.E117E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	117						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAGGAAGGGAGGGTACCGCTG	0.522000													140	144					0	0	0.000781405	0	0
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:53227586G>A	ENST00000330553.5	-	1	493	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	153	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAAGGAGGCGAACTTGTTGT	0.607000													89	80					0	0	0.000781405	0	0
TMEM19	55266	broad.mit.edu	37	12	72090353	72090353	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:72090353G>A	ENST00000266673.5	+	3	976	c.382_splice	c.e3+1	p.G128_splice	RP11-293I14.2_ENST00000548802.1_3'UTR|TMEM19_ENST00000549735.1_Splice_Site_p.G128_splice	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	128						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATATAAGGAAGGTAAAATTAT	0.299000													11	17					0	0	0.000673444	0	0
FRG1B	284802	broad.mit.edu	37	20	29632635	29632635	+	Silent	SNP	C	C	T	rs147762774	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:29632635C>T	ENST00000278882.3	+	8	830	c.450C>T	c.(448-450)gaC>gaT	p.D150D	FRG1B_ENST00000358464.4_Silent_p.D150D																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTCCAAGACCACAAACTTA	0.294000													35	827					0	0	0.000878237	0	0
CCDC81	60494	broad.mit.edu	37	11	86123500	86123500	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:86123500G>A	ENST00000278487.3	+	10	1574	c.495G>A	c.(493-495)cgG>cgA	p.R165R	CCDC81_ENST00000354755.1_Silent_p.R340R|CCDC81_ENST00000528728.1_Silent_p.R165R|CCDC81_ENST00000445632.2_Silent_p.R430R			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	430										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AATATTCCCGGAGTCTCCTGA	0.418000													52	60					0	0	0.000781405	0	0
CCDC129	223075	broad.mit.edu	37	7	31683099	31683099	+	Silent	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:31683099C>A	ENST00000319386.3	+	11	2664	c.1671C>A	c.(1669-1671)tcC>tcA	p.S557S	CCDC129_ENST00000451887.2_Silent_p.S731S|CCDC129_ENST00000409210.1_Silent_p.S613S|CCDC129_ENST00000407970.3_Silent_p.S705S			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	705										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGGCAGCTCCAGGTCTGTAA	0.537000													25	27					3.01185e-09	4.69778e-08	0.000586117	1	0
PCLO	27445	broad.mit.edu	37	7	82763649	82763649	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:82763649G>A	ENST00000423517.2	-	3	3554	c.3217C>T	c.(3217-3219)Cct>Tct	p.P1073S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1073S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1019					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGTTAGGAGGATCCTTAGAA	0.408000													14	8					0	0	0.000151284	0	0
FAM47B	170062	broad.mit.edu	37	X	34962808	34962808	+	Silent	SNP	T	T	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:34962808T>G	ENST00000329357.5	+	1	1896	c.1860T>G	c.(1858-1860)tcT>tcG	p.S620S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	620										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTTACGACTCTGTTAAGACTC	0.403000													119	116					0	0	0.000781405	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472882	70472882	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70472882C>T	ENST00000373998.1	-	2	921	c.224G>A	c.(223-225)gGa>gAa	p.G75E	ZMYM3_ENST00000373981.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000373978.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G75E|ZMYM3_ENST00000373984.3_Missense_Mutation_p.G75E|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G75E|ZMYM3_ENST00000353904.2_Missense_Mutation_p.G75E	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	75					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCAGTGGCTCCATCCAGGAC	0.652000													28	10					0	0	0.000692331	0	0
ITGA8	8516	broad.mit.edu	37	10	15639265	15639265	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:15639265C>T	ENST00000378076.3	-	21	2505	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	718					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E718Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTACATTTTCCATCTTGTAC	0.448000													61	47					0	0	0.000781405	0	0
CYP2S1	29785	broad.mit.edu	37	19	41711993	41711993	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:41711993C>T	ENST00000310054.4	+	8	1511	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	CYP2S1_ENST00000542619.1_Missense_Mutation_p.P157L	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	432					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GCGTTCCTGCCCTTCTCCTTA	0.582000													21	25					0	0	0.000229342	0	0
FZR1	51343	broad.mit.edu	37	19	3527806	3527806	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:3527806C>T	ENST00000441788.2	+	7	884	c.648C>T	c.(646-648)acC>acT	p.T216T	FZR1_ENST00000395095.3_Silent_p.T216T|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	216					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCTGTACCAGCCAGGTGG	0.622000													16	17					0	0	0.000958276	0	0
MYH13	8735	broad.mit.edu	37	17	10204920	10204920	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:10204920T>C	ENST00000418404.3	-	39	5931	c.5768A>G	c.(5767-5769)aAg>aGg	p.K1923R	MYH13_ENST00000252172.4_Missense_Mutation_p.K1923R|MYH13_ENST00000570743.1_Missense_Mutation_p.K1923R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1923					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						GGCCCTCAGCTTGTTGACCTG	0.592000													56	74					0	0	0.000781405	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44429737	44429737	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:44429737G>A	ENST00000372622.3	+	5	465	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	133						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TTCAGATGGAGAAAAAGTAAT	0.463000													43	68					0	0	0.000781405	0	0
GPAT2	150763	broad.mit.edu	37	2	96689126	96689126	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:96689126C>A	ENST00000434632.1	-	19	2418	c.1959G>T	c.(1957-1959)tgG>tgT	p.W653C	GPAT2_ENST00000377137.3_Intron|GPAT2_ENST00000453542.1_Missense_Mutation_p.W582C|GPAT2_ENST00000359548.4_Missense_Mutation_p.W653C			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	653					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CACTCGGTTTCCACAGCAGCT	0.587000													19	23					1.40151e-16	2.20738e-15	0.000175454	1	0
MDN1	23195	broad.mit.edu	37	6	90422395	90422395	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:90422395G>A	ENST00000369393.3	-	48	7444	c.7329C>T	c.(7327-7329)ctC>ctT	p.L2443L	MDN1_ENST00000428876.1_Silent_p.L2443L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2443					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTAGCAAAGAGAGCTGAGG	0.468000													59	60					0	0	0.000781405	0	0
SORCS3	22986	broad.mit.edu	37	10	107006990	107006990	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:107006990C>T	ENST00000369701.3	+	22	3233	c.3006C>T	c.(3004-3006)tcC>tcT	p.S1002S	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1002						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATTTCCAGTCCCAGCTTTTAT	0.463000													16	2					0	0	0.00074312	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937210	4937210	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:4937210G>A	ENST00000512825.2	-	3	1985	c.574C>T	c.(574-576)Cct>Tct	p.P192S	SLC52A1_ENST00000254853.5_Missense_Mutation_p.P192S|SLC52A1_ENST00000424747.1_Missense_Mutation_p.P192S			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	192						integral to plasma membrane	receptor activity|riboflavin transporter activity										GTGCTGGCAGGAAAACGCTCA	0.627000													52	49					0	0	0.000781405	0	0
LCK	3932	broad.mit.edu	37	1	32745524	32745524	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:32745524C>T	ENST00000333070.4	+	11	1314	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	LCK_ENST00000336890.5_Missense_Mutation_p.T375I|LCK_ENST00000373564.3_Missense_Mutation_p.T382I	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	375	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GTGTCTGACACCCTGAGCTGC	0.517000			T	TRB@	T-ALL								43	52					0	0	0.000680045	0	0
IRS4	8471	broad.mit.edu	37	X	107977539	107977539	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:107977539G>T	ENST00000372129.2	-	1	2112	c.2036C>A	c.(2035-2037)cCa>cAa	p.P679Q		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	679	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCACCTTCTGGGATCTCTGC	0.502000													22	926					1.9806e-07	3.06556e-06	0.000295444	1	0
PTPN5	84867	broad.mit.edu	37	11	18765556	18765556	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:18765556G>A	ENST00000396170.1	-	4	1552	c.288C>T	c.(286-288)ttC>ttT	p.F96F	PTPN5_ENST00000396171.4_Silent_p.F96F|PTPN5_ENST00000396168.1_Silent_p.F72F|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396167.2_Silent_p.F96F|PTPN5_ENST00000358540.2_Silent_p.F96F	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	96						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCCTTACCAGGAACTGTGAGG	0.652000													32	1					0	0	0.000953801	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504706	70504706	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:70504706C>T	ENST00000457664.2	-	1	652	c.653G>A	c.(652-654)aGg>aAg	p.R218K	UGT2A1_ENST00000514019.1_Missense_Mutation_p.R419K|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron	NM_001105677.2	NP_001099147.2																					ATTTTTAATCCTTTCACCAAA	0.408000													10	8					0	0	0.000442599	0	0
CCDC81	60494	broad.mit.edu	37	11	86123499	86123499	+	Missense_Mutation	SNP	G	G	A	rs143484591		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:86123499G>A	ENST00000278487.3	+	10	1573	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	CCDC81_ENST00000354755.1_Missense_Mutation_p.R340Q|CCDC81_ENST00000528728.1_Missense_Mutation_p.R165Q|CCDC81_ENST00000445632.2_Missense_Mutation_p.R430Q			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	430										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GAATATTCCCGGAGTCTCCTG	0.418000													53	59					0	0	0.000781405	0	0
NMD3	51068	broad.mit.edu	37	3	160942813	160942813	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:160942813C>T	ENST00000460469.1	+	2	595	c.140C>T	c.(139-141)cCg>cTg	p.P47L	NMD3_ENST00000472947.1_Missense_Mutation_p.P47L|NMD3_ENST00000478160.1_Intron|NMD3_ENST00000351193.2_Missense_Mutation_p.P47L			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	47					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CAAGGTATTCCGAAACAAGTC	0.413000													66	3					0	0	0.000781405	0	0
COL9A1	1297	broad.mit.edu	37	6	70942291	70942291	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:70942291G>A	ENST00000357250.6	-	36	2656	c.2498C>T	c.(2497-2499)cCt>cTt	p.P833L	COL9A1_ENST00000320755.7_Missense_Mutation_p.P590L|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.P590L|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	833	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTACCTTTAGGTCCCCTCAA	0.498000													77	101					0	0	0.000781405	0	0
BMP5	653	broad.mit.edu	37	6	55625297	55625297	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:55625297C>T	ENST00000370830.3	-	5	1760	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	BMP5_ENST00000446683.2_Silent_p.K354K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	354					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.K354K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCGTGCTTCTTACAGGCTT	0.353000													8	11					0	0	0.000274275	0	0
EVX2	344191	broad.mit.edu	37	2	176944868	176944868	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:176944868C>T	ENST00000308618.4	-	3	1534	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	466						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCCTCTGGTCCGGCGGGCTCA	0.726000													4	4					0	0	0.00024832	0	0
KIF1A	547	broad.mit.edu	37	2	241660412	241660412	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:241660412G>A	ENST00000498729.2	-	45	5033	c.4787C>T	c.(4786-4788)tCc>tTc	p.S1596F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S1495F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1495	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCTAGAGGGGACATCGACGG	0.647000													9	13					0	0	0.000442599	0	0
F10	2159	broad.mit.edu	37	13	113801733	113801733	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:113801733G>A	ENST00000375559.3	+	7	826	c.788G>A	c.(787-789)gGa>gAa	p.G263E	F10_ENST00000375551.3_Missense_Mutation_p.G263E|F10_ENST00000409306.1_Missense_Mutation_p.G263E	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	263	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGTGGTGGAACCATTCTG	0.552000													25	27					0	0	0.000586117	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911287	100911287	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:100911287G>A	ENST00000328766.5	-	5	1741	c.1288C>T	c.(1288-1290)Ctc>Ttc	p.L430F	ARMCX2_ENST00000356824.4_Missense_Mutation_p.L430F|ARMCX2_ENST00000330154.2_Missense_Mutation_p.L430F	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	430						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						ATAATTGGGAGGCCTCCCAAT	0.398000													69	260					0	0	0.000781405	0	0
SLC16A10	117247	broad.mit.edu	37	6	111540048	111540048	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:111540048C>T	ENST00000368850.3	+	4	662	c.176C>T	c.(175-177)tCc>tTc	p.S59F	SLC16A10_ENST00000368851.5_Missense_Mutation_p.S373F			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	373					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		GGTCTGATGTCCATGATGATT	0.483000													82	91					0	0	0.000781405	0	0
NONO	4841	broad.mit.edu	37	X	70518652	70518652	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70518652G>A	ENST00000535149.1	+	9	1643	c.1000G>A	c.(1000-1002)Gga>Aga	p.G334R	NONO_ENST00000373841.1_Missense_Mutation_p.G423R|NONO_ENST00000373856.3_Missense_Mutation_p.G423R|NONO_ENST00000276079.8_Missense_Mutation_p.G423R|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	423	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GATGCCGGATGGAACTTTGGG	0.532000			T	TFE3	papillary renal cancer								9	31					0	0	0.000422831	0	0
PLCH1	23007	broad.mit.edu	37	3	155210562	155210562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:155210562G>A	ENST00000460012.1	-	18	2530	c.2173C>T	c.(2173-2175)Caa>Taa	p.Q725*	PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q725*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.Q743*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q743*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q725*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.Q743*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	743	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGGGGAGTTGCTGTCCACTG	0.453000													34	2					0	0	0.000692331	0	0
HYDIN	54768	broad.mit.edu	37	16	71218869	71218869	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:71218869C>T	ENST00000393567.2	-	3	310	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HYDIN_ENST00000321489.5_Missense_Mutation_p.E54K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E71K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E54K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E54K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E71K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E81K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E54K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	54								p.E54K(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGACATTTCCTTCAGGAAC	0.408000													10	2					0	0	0.000673444	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799260	57799260	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:57799260C>T	ENST00000302622.3	+	1	859	c.836C>T	c.(835-837)tCt>tTt	p.S279F	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				AAGGTGGTATCTGTCTTCTAC	0.483000													79	88					0	0	0.000781405	0	0
ADAM7	8756	broad.mit.edu	37	8	24324426	24324426	+	Silent	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:24324426T>C	ENST00000175238.6	+	6	587	c.504T>C	c.(502-504)taT>taC	p.Y168Y	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Silent_p.Y168Y|ADAM7_ENST00000380789.1_Silent_p.Y168Y|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	168					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTGCCAATTATTCCTGTACAG	0.363000													56	42					0	0	0.000781405	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3391301	3391301	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:3391301C>T	ENST00000378378.4	+	9	1740	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	ARHGEF16_ENST00000378371.2_Silent_p.S157S|ARHGEF16_ENST00000378373.1_Silent_p.S157S|ARHGEF16_ENST00000413250.2_Silent_p.S149S	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	445	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGGCCACTCCGAAAGGTACA	0.632000													26	38					0	0	0.000227799	0	0
USP26	83844	broad.mit.edu	37	X	132161000	132161000	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:132161000G>A	ENST00000511190.1	-	6	1718	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	USP26_ENST00000370832.1_Missense_Mutation_p.P417S|USP26_ENST00000406273.1_Missense_Mutation_p.P417S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	417					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACCTGTTTAGGAAAATTATCT	0.368000													21	26					0	0	0.000229342	0	0
FIG4	9896	broad.mit.edu	37	6	110107591	110107591	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:110107591C>T	ENST00000230124.3	+	18	2159	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	FIG4_ENST00000441478.2_Missense_Mutation_p.R402W	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	679					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGAGTTCTTTCGGCCATATGA	0.368000													44	57					0	0	0.000781405	0	0
SPATS2	65244	broad.mit.edu	37	12	49918674	49918674	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:49918674C>T	ENST00000553127.1	+	14	1834	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	SPATS2_ENST00000552918.1_Missense_Mutation_p.R441W|SPATS2_ENST00000321898.6_Missense_Mutation_p.R441W			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	441						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CCAGCCACTTCGGGAGGTAAC	0.478000													30	20					0	0	0.00058488	0	0
NCL	4691	broad.mit.edu	37	2	232326634	232326634	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:232326634G>A	ENST00000322723.4	-	3	470	c.230C>T	c.(229-231)cCa>cTa	p.P77L		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	77	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTCTTGGCTGGTGTGGCAAC	0.512000													115	126					0	0	0.000781405	0	0
TMEM19	55266	broad.mit.edu	37	12	72090354	72090354	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:72090354G>A	ENST00000266673.5	+	3	976		c.e3+1		RP11-293I14.2_ENST00000548802.1_Splice_Site|TMEM19_ENST00000549735.1_Splice_Site	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19							integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TATAAGGAAGGTAAAATTATG	0.294000													11	15					0	0	0.000673444	0	0
DSG3	1830	broad.mit.edu	37	18	29049138	29049138	+	Missense_Mutation	SNP	C	C	T	rs61730311	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:29049138C>T	ENST00000257189.4	+	12	1806	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	575					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGAACAATCGGTGTGAGAT	0.527000													63	78					0	0	0.000781405	0	0
SLC15A1	6564	broad.mit.edu	37	13	99368162	99368162	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:99368162G>A	ENST00000376503.5	-	9	748	c.693C>T	c.(691-693)aaC>aaT	p.N231N		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	231					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TACCCATGATGTTGCCCTGTG	0.453000													47	74					0	0	0.000781405	0	0
ALK	238	broad.mit.edu	37	2	29451808	29451808	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:29451808C>T	ENST00000389048.3	-	16	3663	c.2757G>A	c.(2755-2757)ggG>ggA	p.G919G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	919	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTCCGAAACCCCCTCTTGTCT	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				38	17					0	0	0.00111076	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248790	140248790	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:140248790C>T	ENST00000398640.2	+	1	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S	PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCCGTCTCGGAGG	0.647000													56	4					0	0	0.000781405	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620064	40620064	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:40620064C>T	ENST00000343619.4	+	4	356	c.233C>T	c.(232-234)cCg>cTg	p.P78L	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P78L|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P78L|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P78L|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P78L|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P78L	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	78					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GCTAACATTCCGATTATGGAC	0.393000													21	2					0	0	0.00047179	0	0
ESM1	11082	broad.mit.edu	37	5	54281137	54281137	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:54281137G>A	ENST00000381405.4	-	1	354	c.209C>T	c.(208-210)tCa>tTa	p.S70L	ESM1_ENST00000381403.4_Missense_Mutation_p.S70L|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	70	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			ATCCATGCCTGAGACTGTGCG	0.577000													23	2					0	0	0.000229342	0	0
ASPG	374569	broad.mit.edu	37	14	104570991	104570991	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:104570991C>T	ENST00000551177.1	+	9	1061	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ASPG_ENST00000455920.2_Silent_p.F323F|ASPG_ENST00000546892.2_Silent_p.F323F	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	323	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TCTCAGGCTTCGACATGACAT	0.687000													15	16					0	0	0.000219431	0	0
RELA	5970	broad.mit.edu	37	11	65427250	65427250	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:65427250C>T	ENST00000525693.1	-	6	508	c.446G>A	c.(445-447)cGt>cAt	p.R149H	RELA_ENST00000308639.9_Missense_Mutation_p.R146H|RELA_ENST00000406246.3_Missense_Mutation_p.R149H			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	149	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTAGTCCCCACGCTGCTCTTC	0.612000													22	25					0	0	0.000375601	0	0
KIF2B	84643	broad.mit.edu	37	17	51901110	51901110	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:51901110C>T	ENST00000268919.4	+	1	872	c.716C>T	c.(715-717)cCc>cTc	p.P239L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	239	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCACCGTCCCCTCGGACAAT	0.557000													16	2					0	0	0.000566183	0	0
INTS5	80789	broad.mit.edu	37	11	62415914	62415914	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:62415914G>A	ENST00000330574.2	-	2	1690	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	546					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGAGGCCAGAGAGGCTGACCA	0.622000													29	40					0	0	0.000409698	0	0
FER1L6	654463	broad.mit.edu	37	8	125072474	125072474	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:125072474C>T	ENST00000522917.1	+	23	3134	c.2928C>T	c.(2926-2928)acC>acT	p.T976T	FER1L6_ENST00000399018.1_Silent_p.T976T|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	976						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGACATCACCCAGATCTACC	0.572000													33	62					0	0	0.000437636	0	0
MSN	4478	broad.mit.edu	37	X	64957167	64957167	+	Silent	SNP	C	C	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:64957167C>G	ENST00000360270.5	+	10	1390	c.1218C>G	c.(1216-1218)gcC>gcG	p.A406A	MSN_ENST00000486030.1_3'UTR	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	406					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TGCTGCAGGCCTCCCGGGACC	0.542000			T	ALK	ALCL								10	41					0	0	0.000442599	0	0
CDSN	1041	broad.mit.edu	37	6	31083966	31083966	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31083966G>A	ENST00000376288.2	-	2	1452	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	476					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGATCAGGATGGGGAGAGCCA	0.597000													20	24					0	0	0.000229342	0	0
HGF	3082	broad.mit.edu	37	7	81388044	81388044	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:81388044C>T	ENST00000222390.5	-	3	557	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	HGF_ENST00000423064.2_Missense_Mutation_p.E111K|HGF_ENST00000354224.6_Missense_Mutation_p.E111K|HGF_ENST00000453018.1_Missense_Mutation_p.E8K|HGF_ENST00000457544.2_Missense_Mutation_p.E111K|HGF_ENST00000453411.1_Missense_Mutation_p.E111K|HGF_ENST00000444829.2_Missense_Mutation_p.E111K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	111	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGGCCAAATTCTTTTTTCACT	0.313000													48	50					0	0	0.000781405	0	0
PER1	5187	broad.mit.edu	37	17	8049754	8049754	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:8049754G>A	ENST00000317276.4	-	16	2211	c.1974C>T	c.(1972-1974)acC>acT	p.T658T	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Silent_p.T638T|PER1_ENST00000354903.5_Silent_p.T642T	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	658	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGAGGAGGTGGTATAGGAGG	0.587000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					38	32					0	0	0.000953801	0	0
F8	2157	broad.mit.edu	37	X	154182265	154182265	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:154182265C>T	ENST00000360256.4	-	12	2005	c.1805G>A	c.(1804-1806)cGa>cAa	p.R602Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	602	F5/8 type A 2.|Plastocyanin-like 4.		R -> G (in HEMA; mild familial).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTACCAGCTTCGGTTCTCATC	0.423000													118	410					0	0	0.000781405	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42115750	42115750	+	Missense_Mutation	SNP	C	C	T	rs148608964	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:42115750C>T	ENST00000457542.2	+	29	3990	c.3704C>T	c.(3703-3705)cCg>cTg	p.P1235L	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1118L|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1241L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1074L|MAPKBP1_ENST00000514566.1_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1241										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GATGGCCGTCCGTCTCGGCCT	0.622000													29	21					0	0	0.000409698	0	0
TYRP1	7306	broad.mit.edu	37	9	12694240	12694240	+	Translation_Start_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:12694240G>A	ENST00000381137.2	+	0	422				TYRP1_ENST00000388918.5_Missense_Mutation_p.D82N			P17643	TYRP1_HUMAN	tyrosinase-related protein 1						melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GTATCCCCATGATGGCAGAGA	0.597000									Oculocutaneous Albinism				5	7					0	0	0.000602214	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788759	3788759	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:3788759G>A	ENST00000381771.2	-	2	370	c.223C>T	c.(223-225)Cta>Tta	p.L75L	CAMKK1_ENST00000158166.5_Silent_p.L75L|CAMKK1_ENST00000348335.2_Silent_p.L75L|CAMKK1_ENST00000381769.2_Silent_p.L102L			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	75					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CGCTCCTGTAGGGAAAGCTTC	0.677000													12	12					0	0	0.000978159	0	0
CSMD1	64478	broad.mit.edu	37	8	2976104	2976104	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:2976104C>T	ENST00000520002.1	-	43	6805	c.6250G>A	c.(6250-6252)Gaa>Aaa	p.E2084K	CSMD1_ENST00000400186.3_Missense_Mutation_p.E2084K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2084K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2083K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2083K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2084K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2084						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTGTAATTCATAGGCTGAA	0.408000													28	33					0	0	0.000227799	0	0
GPR98	84059	broad.mit.edu	37	5	90074406	90074406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:90074406C>T	ENST00000405460.2	+	63	12925	c.12829C>T	c.(12829-12831)Cga>Tga	p.R4277*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4277					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)		TGAGCAACTTCGAGTGTCAGA	0.413000													10	0					0	0	0.000978159	0	0
CLRN2	645104	broad.mit.edu	37	4	17524612	17524612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:17524612C>T	ENST00000511148.2	+	2	481	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	127						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GATCCAGGTCCCGTACCGGGC	0.547000													26	40					0	0	0.000720815	0	0
CASR	846	broad.mit.edu	37	3	122003273	122003273	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:122003273C>T	ENST00000498619.1	+	7	2940	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	CASR_ENST00000490131.1_Silent_p.A824A|CASR_ENST00000296154.5_Silent_p.A824A	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	824					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCATTCCAGCCTATGCCAGCA	0.512000													55	3					0	0	0.000781405	0	0
NBL1	4681	broad.mit.edu	37	1	19981520	19981520	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:19981520G>A	ENST00000289749.2	+	2	182	c.102G>A	c.(100-102)acG>acA	p.T34T	NBL1_ENST00000375136.3_5'UTR|MINOS1-NBL1_ENST00000602662.1_5'UTR|NBL1_ENST00000548815.1_5'UTR	NM_182744.3	NP_877421.2	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	0	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGCCACGGGCATGATGC	0.627000													15	19					0	0	0.00074312	0	0
COG3	83548	broad.mit.edu	37	13	46067544	46067544	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:46067544T>G	ENST00000349995.5	+	12	1362	c.1250T>G	c.(1249-1251)gTt>gGt	p.V417G	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	417					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATCATTCATGTTATTCACTTA	0.343000													71	92					0	0	0.000781405	0	0
LCK	3932	broad.mit.edu	37	1	32745525	32745525	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:32745525C>T	ENST00000333070.4	+	11	1315	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	LCK_ENST00000336890.5_Silent_p.T375T|LCK_ENST00000373564.3_Silent_p.T382T	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	375	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TGTCTGACACCCTGAGCTGCA	0.522000			T	TRB@	T-ALL								43	50					0	0	0.000680045	0	0
RNF216	54476	broad.mit.edu	37	7	5662592	5662592	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:5662592G>A	ENST00000425013.2	-	17	2724	c.2500C>T	c.(2500-2502)Ctg>Ttg	p.L834L	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Silent_p.L891L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	834	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACGTTGGGCAGAGGGGGCACG	0.647000													55	55					0	0	0.000781405	0	0
FGD2	221472	broad.mit.edu	37	6	36990132	36990132	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:36990132C>T	ENST00000274963.8	+	13	1615	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	482					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCACCACTGCCGGGCCTGCGG	0.667000													10	15					0	0	0.000442599	0	0
NSDHL	50814	broad.mit.edu	37	X	152037408	152037408	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:152037408C>T	ENST00000370274.3	+	8	1064	c.870C>T	c.(868-870)gcC>gcT	p.A290A	NSDHL_ENST00000440023.1_Silent_p.A290A	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	290					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ATTATGAGGCCCCCAAGTACC	0.557000													74	324					0	0	0.000781405	0	0
SYNE1	23345	broad.mit.edu	37	6	152841609	152841609	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:152841609G>A	ENST00000367255.5	-	6	895	c.294C>T	c.(292-294)ttC>ttT	p.F98F	SYNE1_ENST00000413186.2_Silent_p.F98F|SYNE1_ENST00000265368.4_Silent_p.F98F|SYNE1_ENST00000367248.3_Silent_p.F98F|SYNE1_ENST00000423061.1_Silent_p.F98F|SYNE1_ENST00000367253.4_Silent_p.F98F|SYNE1_ENST00000341594.5_Silent_p.F98F|SYNE1_ENST00000448038.1_Silent_p.F98F|SYNE1_ENST00000466159.2_Silent_p.F98F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	98	Actin-binding.|CH 1.			F -> L (in Ref. 2; AAN60442).	cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTTCGAGGAACTTGAGTG	0.448000										HNSCC(10;0.0054)			46	37					0	0	0.000781405	0	0
HAUS7	55559	broad.mit.edu	37	X	152722006	152722006	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:152722006G>A	ENST00000421080.2	-	8	1329	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	HAUS7_ENST00000370219.3_Missense_Mutation_p.P194S|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.P194S|HAUS7_ENST00000370211.4_Missense_Mutation_p.P184S|TREX2_ENST00000338525.2_5'UTR			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	194					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						AGGGGCCACGGGTCGCACTCT	0.622000													11	4					0	0	0.000978159	0	0
ALG6	29929	broad.mit.edu	37	1	63894447	63894447	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:63894447T>A	ENST00000371108.4	+	13	1407	c.1102T>A	c.(1102-1104)Tgg>Agg	p.W368R	ALG6_ENST00000263440.4_Missense_Mutation_p.W370R|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	368					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TATGTCTACTTGGTTTTTACT	0.244000													54	50					0	0	0.000781405	0	0
FUT2	2524	broad.mit.edu	37	19	49207161	49207161	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:49207161C>T	ENST00000425340.2	+	2	1065	c.948C>T	c.(946-948)ttC>ttT	p.F316F	FUT2_ENST00000391876.4_Silent_p.F316F	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	316					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACTCCCCTTTCCTCAAAATCT	0.567000													43	48					0	0	0.000509022	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45681368	45681368	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:45681368C>T	ENST00000006275.4	-	1	127	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TRAPPC6A_ENST00000585934.1_Intron|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.E37K|TRAPPC6A_ENST00000588062.1_Intron	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	28					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		GCCCCCGCTTCCTCCCCACGG	0.692000													12	10					0	0	0.000151284	0	0
KLRD1	3824	broad.mit.edu	37	12	10462030	10462030	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:10462030G>A	ENST00000381908.3	+	2	311	c.51G>A	c.(49-51)ggG>ggA	p.G17G	KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Silent_p.G17G|KLRD1_ENST00000543777.1_Silent_p.G17G|KLRD1_ENST00000381907.4_Silent_p.G17G|KLRD1_ENST00000543420.1_Silent_p.G17G|KLRD1_ENST00000538997.1_Intron			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	17					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						GGACCTTAGGGATAATATGCC	0.373000													44	73					0	0	0.000781405	0	0
CCNE1	898	broad.mit.edu	37	19	30313020	30313020	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:30313020T>C	ENST00000262643.3	+	9	1102	c.823T>C	c.(823-825)Ttt>Ctt	p.F275L	CCNE1_ENST00000357943.5_Missense_Mutation_p.F232L|CCNE1_ENST00000444983.2_Missense_Mutation_p.F260L	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	275					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCAGCAAATCTTTATACAGAT	0.498000			A		serous ovarian								33	41					0	0	0.000339439	0	0
FAM46B	115572	broad.mit.edu	37	1	27332474	27332474	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:27332474G>A	ENST00000289166.5	-	2	1404	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	413										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGAGCCAGGAGAGGTTGCA	0.662000													37	46					0	0	0.000374591	0	0
SF3A1	10291	broad.mit.edu	37	22	30735145	30735145	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:30735145C>T	ENST00000439242.1	-	10	1407	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	SF3A1_ENST00000215793.7_Missense_Mutation_p.E491K	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	491					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGGATCTCCTCCTCACCGATC	0.512000													75	92					0	0	0.000781405	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716366	18716366	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:18716366C>T	ENST00000433979.1	+	27	3829	c.3713C>T	c.(3712-3714)tCa>tTa	p.S1238L	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1279L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1238L	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1238	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAGAAAAATCATTTGAGCAG	0.408000													21	14					0	0	0.000175454	0	0
MMP19	4327	broad.mit.edu	37	12	56230895	56230895	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:56230895C>T	ENST00000394182.1	-	4	593	c.594G>A	c.(592-594)ggG>ggA	p.G198G	MMP19_ENST00000548629.1_Silent_p.G461G|MMP19_ENST00000322569.4_Silent_p.G484G|MMP19_ENST00000409200.3_3'UTR			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	484					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GAGTGGTATTCCCACCTGATG	0.502000													106	123					0	0	0.000781405	0	0
INSIG1	3638	broad.mit.edu	37	7	155094485	155094485	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:155094485C>T	ENST00000340368.4	+	5	944	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	INSIG1_ENST00000344756.4_Missense_Mutation_p.R93C|INSIG1_ENST00000342407.5_Silent_p.F147F	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	245					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCTATATTCGTTCTTGGCT	0.418000													74	101					0	0	0.000781405	0	0
OR51M1	390059	broad.mit.edu	37	11	5411355	5411355	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:5411355C>A	ENST00000328611.3	+	1	749	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	243						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGCCTCCCAAGAGGAGCA	0.562000													19	1					1.55795e-14	2.44422e-13	0.000229342	1	0
EHMT2	10919	broad.mit.edu	37	6	31864151	31864151	+	Silent	SNP	G	G	A	rs140758887		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31864151G>A	ENST00000395728.3	-	3	641	c.642C>T	c.(640-642)gcC>gcT	p.A214A	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.A214A|EHMT2_ENST00000375530.4_Silent_p.A157A|EHMT2_ENST00000375537.4_Silent_p.A157A			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	157					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGCTCCCTGGGCTCCTGGCA	0.602000													260	221					0	0	0.000781405	0	0
AGA	175	broad.mit.edu	37	4	178360783	178360783	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:178360783A>T	ENST00000264595.2	-	3	468	c.341T>A	c.(340-342)gTg>gAg	p.V114E	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	114					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTTCCGTGCCACACCAATAGC	0.363000													120	179					0	0	0.000781405	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659412	176659412	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:176659412G>A	ENST00000367662.3	+	5	3441	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	PAPPA2_ENST00000367661.3_Silent_p.K759K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	759					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCCCTGCAAGGAGACAGTGC	0.557000													35	53					0	0	0.000228196	0	0
LOC442028	442028	broad.mit.edu	37	2	95552787	95552787	+	RNA	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:95552787G>A	ENST00000568768.1	-	0	476																											TAAAGACGAAGGATTATCTCA	0.378000													16	17					0	0	0.000422831	0	0
GZMB	3002	broad.mit.edu	37	14	25100298	25100298	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:25100298C>T	ENST00000216341.4	-	5	829	c.723G>A	c.(721-723)aaG>aaA	p.K241K	GZMB_ENST00000415355.3_Silent_p.K229K|GZMB_ENST00000382542.1_Silent_p.K275K|GZMB_ENST00000382540.1_Silent_p.K196K|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	241	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCATGGTTTTCTTTATCCAGT	0.488000													94	87					0	0	0.000781405	0	0
MOV10	4343	broad.mit.edu	37	1	113241402	113241402	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:113241402G>A	ENST00000369644.1	+	18	3435	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.K858K|MOV10_ENST00000369645.1_Silent_p.K858K|MOV10_ENST00000357443.2_Silent_p.K858K			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	858					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ATGACATCAAGGACTTGAAGG	0.557000													98	6					0	0	0.000781405	0	0
CDSN	1041	broad.mit.edu	37	6	31084135	31084135	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31084135G>A	ENST00000376288.2	-	2	1283	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	419	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGGGGCTCTGGGAAGCACTGC	0.602000													9	11					0	0	0.000274275	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059069	79059069	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:79059069C>T	ENST00000388820.4	-	19	3394	c.3184G>A	c.(3184-3186)Gac>Aac	p.D1062N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1062					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TAGTAGAAGTCGTCCACAAAC	0.612000													13	30					0	0	0.000151284	0	0
GNG8	94235	broad.mit.edu	37	19	47137438	47137438	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:47137438G>A	ENST00000300873.4	-	2	110	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_033258.1	NP_150283.1	Q9UK08	GBG8_HUMAN	guanine nucleotide binding protein (G protein), gamma 8	36					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		AGAAAGCCAGGAGTTCCGCTG	0.667000													6	16					0	0	3.59834e-05	0	0
OR5D14	219436	broad.mit.edu	37	11	55563092	55563092	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:55563092G>A	ENST00000335605.1	+	1	61	c.61G>A	c.(61-63)Gat>Aat	p.D21N		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGGTTTCACAGATTACCCAAA	0.393000													22	21					0	0	0.000295444	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130022	35130022	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:35130022C>T	ENST00000436258.1	-	0	3347																											GGCAGATTTTCGACTATATGT	0.274000													36	54					0	0	0.000692331	0	0
ATP7B	540	broad.mit.edu	37	13	52515323	52515323	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:52515323G>A	ENST00000242839.4	-	16	3606	c.3450C>T	c.(3448-3450)aaC>aaT	p.N1150N	ATP7B_ENST00000344297.5_Silent_p.N943N|ATP7B_ENST00000448424.2_Silent_p.N1072N|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.N1085N|ATP7B_ENST00000417240.2_Silent_p.N361N|ATP7B_ENST00000400370.3_Silent_p.N720N|ATP7B_ENST00000400366.3_Silent_p.N1039N	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1150					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCCACTCACGGTTTCCAATCA	0.473000									Wilson disease				43	51					0	0	0.000509022	0	0
ZNF223	7766	broad.mit.edu	37	19	44564658	44564658	+	Silent	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:44564658G>T	ENST00000591793.1	+	5	479	c.396G>T	c.(394-396)ctG>ctT	p.L132L	ZNF223_ENST00000434772.3_Silent_p.L22L|ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Silent_p.L22L			Q9UK11	ZN223_HUMAN	zinc finger protein 223	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGGAGGAGCTGGGGCTGCTGG	0.517000													8	197					3.86212e-05	0.000594354	0.000673444	1	0
KIF1A	547	broad.mit.edu	37	2	241660367	241660367	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:241660367G>A	ENST00000498729.2	-	45	5078	c.4832C>T	c.(4831-4833)tCt>tTt	p.S1611F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S1510F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1510	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCAACCAGAGAGGGGCAAGT	0.652000													6	5					0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179611806	179611806	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179611806G>A	ENST00000360870.5	-	46	15543	c.15321C>T	c.(15319-15321)tcC>tcT	p.S5107S	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1215	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGGGGTGTGGAATATCGCT	0.498000													6	6					0	0	0.000157383	0	0
EPPK1	83481	broad.mit.edu	37	8	144940278	144940278	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:144940278C>T	ENST00000525985.1	-	2	7215	c.7144G>A	c.(7144-7146)Gac>Aac	p.D2382N				P58107	EPIPL_HUMAN	epiplakin 1	2382						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCTTGGTGTCGTCGCTGGGG	0.657000													21	391					0	0	0.000878237	0	0
RAI2	10742	broad.mit.edu	37	X	17819307	17819307	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:17819307G>A	ENST00000545871.1	-	3	1284	c.824C>T	c.(823-825)cCc>cTc	p.P275L	RAI2_ENST00000360011.1_Missense_Mutation_p.P275L|RAI2_ENST00000331511.1_Missense_Mutation_p.P275L|RAI2_ENST00000415486.3_Missense_Mutation_p.P225L|RAI2_ENST00000451717.1_Missense_Mutation_p.P275L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	275					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTTTAAAGGGGTGCAGGCC	0.547000													95	102					0	0	0.000781405	0	0
GRID1	2894	broad.mit.edu	37	10	87373171	87373171	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:87373171G>A	ENST00000327946.7	-	15	2679	c.2594C>T	c.(2593-2595)cCc>cTc	p.P865L	GRID1_ENST00000536331.1_Missense_Mutation_p.P436L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	865						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GACCTCCTTGGGGGTCTCCTG	0.627000										Multiple Myeloma(13;0.14)			11	0					0	0	0.00010058	0	0
DFNB59	494513	broad.mit.edu	37	2	179318186	179318186	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179318186G>A	ENST00000409117.3	+	2	406	c.50G>A	c.(49-51)gGg>gAg	p.G17E	DFNB59_ENST00000375129.4_Missense_Mutation_p.G17E	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	17					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GGAGATGGAGGGAGATTAGTT	0.393000													39	39					0	0	0.000509022	0	0
RTEL1	51750	broad.mit.edu	37	20	62328250	62328250	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:62328250G>A	ENST00000318100.4	+	36	4864	c.4037G>A	c.(4036-4038)aGg>aAg	p.R1346K	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R1346K|TNFRSF6B_ENST00000369996.1_Missense_Mutation_p.G44R			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	0					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CGCAGAGACAGGGGAGCGGCT	0.721000													9	12					0	0	0.000978159	0	0
MIR1323	100302255	broad.mit.edu	37	19	54175238	54175238	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:54175238C>T	ENST00000408090.1	+	0	17					NR_031568.1																						GTCCTCAAAACTGAGGGGCAT	0.483000													65	48					0	0	0.000781405	0	0
CPA6	57094	broad.mit.edu	37	8	68346383	68346383	+	Nonsense_Mutation	SNP	G	G	A	rs139145929		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:68346383G>A	ENST00000297770.4	-	9	1146	c.931C>T	c.(931-933)Cga>Tga	p.R311*	CPA6_ENST00000297769.4_Intron	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	311					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTGTGTTTTCGAAGGAAGTTA	0.423000													38	42					0	0	0.000814825	0	0
IGSF9	57549	broad.mit.edu	37	1	159900130	159900130	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:159900130C>T	ENST00000368094.1	-	15	2110	c.1913G>A	c.(1912-1914)gGg>gAg	p.G638E	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.G622E	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	638	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGAGTACCCCCCGGGGTGT	0.672000													54	51					0	0	0.000781405	0	0
SLC4A4	8671	broad.mit.edu	37	4	72263331	72263331	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:72263331C>T	ENST00000340595.3	+	4	832	c.636C>T	c.(634-636)tcC>tcT	p.S212S	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S212S|SLC4A4_ENST00000425175.1_Silent_p.S256S|SLC4A4_ENST00000264485.5_Silent_p.S256S|SLC4A4_ENST00000351898.6_Silent_p.S256S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	256						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGACTTCCTCCAGTCTGAATG	0.383000													27	36					0	0	0.000339439	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675139	40675139	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:40675139C>T	ENST00000416151.2	+	1	218	c.103C>T	c.(103-105)Cta>Tta	p.L35L	KNSTRN_ENST00000448395.2_Silent_p.L35L|KNSTRN_ENST00000249776.8_Silent_p.L35L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CCGGAAGTTTCTATTTGAAAC	0.602000													36	54					0	0	0.000319135	0	0
NCAN	1463	broad.mit.edu	37	19	19329755	19329755	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:19329755G>A	ENST00000252575.5	+	3	148	c.105G>A	c.(103-105)agG>agA	p.R35R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	35					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCAGCGAAAGGGGGCTCCACA	0.617000													17	29					0	0	0.000132079	0	0
KDR	3791	broad.mit.edu	37	4	55972009	55972009	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:55972009G>A	ENST00000263923.4	-	12	1930	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	545	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTCACGTGGAAGGAGATCA	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			65	68					0	0	0.000781405	0	0
OR2T33	391195	broad.mit.edu	37	1	248436262	248436262	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:248436262G>A	ENST00000318021.2	-	1	876	c.855C>T	c.(853-855)ccC>ccT	p.P285P		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTAGATGAGGGGGTTTAGTA	0.473000													51	68					0	0	0.000781405	0	0
TPTE	7179	broad.mit.edu	37	21	10914443	10914443	+	Splice_Site	SNP	C	C	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:10914443C>G	ENST00000298232.7	-	20	1590		c.e20-1		TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGTACATAACCTGTTCCAACA	0.308000													8	46					0	0	0.000157383	0	0
NOS1	4842	broad.mit.edu	37	12	117724040	117724040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:117724040C>T	ENST00000344089.3	-	7	1900	c.1215G>A	c.(1213-1215)tgG>tgA	p.W405*	NOS1_ENST00000317775.6_Missense_Mutation_p.E387K|NOS1_ENST00000338101.4_Missense_Mutation_p.E387K	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	0					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCACCTCTTCCAGCCTTTCC	0.532000													21	23					0	0	0.000175454	0	0
PBX1	5087	broad.mit.edu	37	1	164769004	164769004	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:164769004C>T	ENST00000420696.2	+	4	767	c.579C>T	c.(577-579)tcC>tcT	p.S193S	PBX1_ENST00000559240.1_Silent_p.S193S|PBX1_ENST00000367897.1_Silent_p.S193S|PBX1_ENST00000540246.1_Silent_p.S88S|PBX1_ENST00000540236.1_Silent_p.S193S|PBX1_ENST00000560641.1_Silent_p.S88S|PBX1_ENST00000401534.1_Silent_p.S193S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	193					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGCCCATCTCCCCAAAGGAGA	0.572000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								32	42					0	0	0.000409698	0	0
MAP1A	4130	broad.mit.edu	37	15	43819247	43819247	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:43819247C>A	ENST00000382031.1	+	5	6321	c.6290C>A	c.(6289-6291)cCa>cAa	p.P2097Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.P1859Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.P1859Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1859						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCTCTCCCCAGCTCCTGGT	0.627000													16	6					2.23348e-06	3.45035e-05	0.000422831	1	0
MUC16	94025	broad.mit.edu	37	19	8998736	8998736	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:8998736C>T	ENST00000397910.4	-	58	41050	c.40847G>A	c.(40846-40848)gGa>gAa	p.G13616E	MUC16_ENST00000380951.5_Missense_Mutation_p.G257E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13618				Missing (in Ref. 3; AAK74120).	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						CCCAGATGTTCCCAGGTCCAC	0.498000													4	5					0	0	0.00024832	0	0
EMD	2010	broad.mit.edu	37	X	153608125	153608125	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:153608125C>T	ENST00000369842.4	+	2	446	c.158C>T	c.(157-159)tCg>tTg	p.S53L	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	53	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCCCAGCTCGTCCGCCGCC	0.672000													31	88					0	0	0.000409698	0	0
LTBP2	4053	broad.mit.edu	37	14	75018965	75018965	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:75018965C>T	ENST00000261978.4	-	6	1710	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.G442R|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	442					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGCGGGACCCCCTCCCTGGA	0.687000													15	13					0	0	0.000566183	0	0
AGAP2	116986	broad.mit.edu	37	12	58121490	58121490	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:58121490G>A	ENST00000257897.3	-	15	1848	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L	AGAP2-AS1_ENST00000542466.2_Missense_Mutation_p.E239K|AGAP2_ENST00000547588.1_Missense_Mutation_p.S944L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	944					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CACGCAGATTGAATTCCCCTT	0.657000													9	9					0	0	0.000673444	0	0
PLCB4	5332	broad.mit.edu	37	20	9353698	9353698	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:9353698G>A	ENST00000378501.2	+	9	706	c.691G>A	c.(691-693)Gga>Aga	p.G231R	PLCB4_ENST00000414679.2_Missense_Mutation_p.G231R|PLCB4_ENST00000378493.1_Missense_Mutation_p.G231R|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.G231R|PLCB4_ENST00000334005.3_Missense_Mutation_p.G231R|PLCB4_ENST00000278655.4_Missense_Mutation_p.G231R	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	231					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTCAGCAATGGAGACAAAAC	0.303000													12	17					0	0	0.000219431	0	0
PRKACG	5568	broad.mit.edu	37	9	71628009	71628009	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:71628009C>T	ENST00000377276.2	-	1	1030	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	334	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGGAGCTCTTCCTCCTCGTAG	0.498000													48	0					0	0	0.000781405	0	0
FBN3	84467	broad.mit.edu	37	19	8165822	8165822	+	Silent	SNP	C	C	T	rs145943652	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:8165822C>T	ENST00000600128.1	-	41	5538	c.5124G>A	c.(5122-5124)ccG>ccA	p.P1708P	FBN3_ENST00000601739.1_Silent_p.P1708P|FBN3_ENST00000270509.2_Silent_p.P1708P			Q75N90	FBN3_HUMAN	fibrillin 3	1708						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGAGGAATCCCGGGGCCTGAT	0.622000													39	44					0	0	0.000319135	0	0
CDSN	1041	broad.mit.edu	37	6	31083967	31083967	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31083967G>A	ENST00000376288.2	-	2	1451	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	475					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GATCAGGATGGGGAGAGCCAT	0.597000													20	24					0	0	0.000229342	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768953	140768953	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:140768953C>T	ENST00000519479.1	+	1	1502	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGTCATCCTACGTGTCC	0.622000													38	6					0	0	0.00111076	0	0
MOV10	4343	broad.mit.edu	37	1	113241403	113241403	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:113241403G>A	ENST00000369644.1	+	18	3436	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.D859N|MOV10_ENST00000369645.1_Missense_Mutation_p.D859N|MOV10_ENST00000357443.2_Missense_Mutation_p.D859N			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	859					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGACATCAAGGACTTGAAGGT	0.557000													94	6					0	0	0.000781405	0	0
MAG	4099	broad.mit.edu	37	19	35793567	35793567	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:35793567A>G	ENST00000361922.4	+	7	1337	c.1187A>G	c.(1186-1188)aAc>aGc	p.N396S	MAG_ENST00000392213.3_Missense_Mutation_p.N396S|MAG_ENST00000537831.2_Missense_Mutation_p.N371S	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	396	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGGCTGAGAACCAGTATGGC	0.612000													36	32					0	0	0.000228196	0	0
FCAR	2204	broad.mit.edu	37	19	55396921	55396921	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:55396921G>A	ENST00000355524.3	+	3	355	c.345G>A	c.(343-345)ctG>ctA	p.L115L	FCAR_ENST00000469767.1_Silent_p.L115L|FCAR_ENST00000391723.3_Silent_p.L103L|FCAR_ENST00000391724.3_Silent_p.L103L|FCAR_ENST00000391726.3_Silent_p.L103L|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391725.3_Silent_p.L115L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.L115L|FCAR_ENST00000359272.4_Silent_p.L103L	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	115					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GTGACACCCTGGAGCTGGTAG	0.438000													34	25					0	0	0.000692331	0	0
PLIN4	729359	broad.mit.edu	37	19	4511665	4511665	+	Silent	SNP	C	C	T	rs71263980		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:4511665C>T	ENST00000301286.3	-	3	2264	c.2265G>A	c.(2263-2265)ggG>ggA	p.G755G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	755	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCTGTGAGCCCAGTGGACA	0.582000													26	56					0	0	0.000589545	0	0
MAPK4	5596	broad.mit.edu	37	18	48255650	48255650	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:48255650C>G	ENST00000400384.2	+	6	2226	c.1190C>G	c.(1189-1191)cCg>cGg	p.P397R	MAPK4_ENST00000540640.1_Missense_Mutation_p.P186R|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	397					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAGGTGGACCCGCGCAAGGAC	0.706000													7	9					0	0	0.000157383	0	0
PROSER1	80209	broad.mit.edu	37	13	39587366	39587366	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:39587366G>A	ENST00000352251.3	-	11	2856	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.P653S	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	675	Ser-rich.																GAGGAAAGAGGATTTGAACCA	0.433000													47	54					0	0	0.000680045	0	0
NCLN	56926	broad.mit.edu	37	19	3205998	3205998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:3205998C>T	ENST00000246117.4	+	10	1701	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	NCLN_ENST00000590671.1_Nonsense_Mutation_p.R350*	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	424					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCTGACTCGAGTCATCTA	0.592000													73	88					0	0	0.000781405	0	0
SLC8B1	80024	broad.mit.edu	37	12	113745603	113745603	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:113745603G>A	ENST00000552014.1	-	14	1819	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	SLC24A6_ENST00000546737.1_Missense_Mutation_p.A379V|SLC24A6_ENST00000202831.3_Missense_Mutation_p.A435V|SLC24A6_ENST00000550047.1_5'UTR			Q6J4K2	NCKX6_HUMAN		435					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TGTGGCGGCCGCGTTGATCCA	0.627000													19	26					0	0	0.000132079	0	0
PLCH1	23007	broad.mit.edu	37	3	155211994	155211994	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:155211994G>A	ENST00000460012.1	-	17	2385	c.2028C>T	c.(2026-2028)aaC>aaT	p.N676N	PLCH1_ENST00000414191.1_Silent_p.N676N|PLCH1_ENST00000447496.2_Silent_p.N694N|PLCH1_ENST00000340059.7_Silent_p.N694N|PLCH1_ENST00000334686.6_Silent_p.N676N|PLCH1_ENST00000494598.1_Silent_p.N694N			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	694	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATTTGGCTCGGTTTAACTGCA	0.413000													34	0					0	0	0.000814825	0	0
MIR200B	406984	broad.mit.edu	37	1	1102527	1102527	+	RNA	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:1102527G>A	ENST00000384997.1	+	0	44					NR_029639.1																						AGCATTGGATGGAGTCAGGTC	0.692000													13	16					0	0	0.000308642	0	0
NLRP9	338321	broad.mit.edu	37	19	56228167	56228167	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:56228167G>A	ENST00000332836.2	-	5	2284	c.2257C>T	c.(2257-2259)Ccc>Tcc	p.P753S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	753						cytoplasm	ATP binding	p.P753S(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCCCTCAAGGGATTTTCTACC	0.527000													48	53					0	0	0.000781405	0	0
C16orf45	89927	broad.mit.edu	37	16	15677013	15677013	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:15677013G>A	ENST00000300006.4	+	5	779	c.419_splice	c.e5-1	p.R140_splice	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Splice_Site_p.R92_splice|C16orf45_ENST00000452191.2_Splice_Site_p.R123_splice|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	140										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						ACTTTCACAGGGAGCAAGAAG	0.378000													24	103					0	0	0.000375601	0	0
FCRL6	343413	broad.mit.edu	37	1	159779306	159779306	+	Missense_Mutation	SNP	C	C	T	rs140713881		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:159779306C>T	ENST00000321935.6	+	6	826	c.740C>T	c.(739-741)tCc>tTc	p.S247F	FCRL6_ENST00000392235.3_Missense_Mutation_p.S145F|FCRL6_ENST00000368106.3_Missense_Mutation_p.S240F|FCRL6_ENST00000339348.5_Missense_Mutation_p.S240F			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	240	Ig-like C2-type 3.					integral to membrane		p.S240F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATCCTGTATTCCTTCTACCTT	0.592000													32	23					0	0	0.000409698	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120877	64120877	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:64120877G>A	ENST00000356786.5	+	22	3786	c.3742G>A	c.(3742-3744)Gaa>Aaa	p.E1248K	CCDC88B_ENST00000359902.2_Missense_Mutation_p.E400K|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1248					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCTGGCTGAAGTTCAGGC	0.657000													14	24					0	0	0.000308642	0	0
DDOST	1650	broad.mit.edu	37	1	20987434	20987434	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:20987434G>A	ENST00000375048.3	-	2	361	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	DDOST_ENST00000602624.2_Missense_Mutation_p.L69F|DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000415136.2_Intron	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	86					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTTTATGAGAGACAGGCTG	0.512000													13	22					0	0	0.000566183	0	0
STAT6	6778	broad.mit.edu	37	12	57493118	57493118	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:57493118G>A	ENST00000300134.3	-	16	2175	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	STAT6_ENST00000543873.2_Missense_Mutation_p.P617L|STAT6_ENST00000538913.2_Missense_Mutation_p.P507L|STAT6_ENST00000537215.2_Missense_Mutation_p.P507L|STAT6_ENST00000454075.3_Missense_Mutation_p.P617L|STAT6_ENST00000556155.1_Missense_Mutation_p.P617L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	617	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGGCTTCTTGGGATAGAGATT	0.552000													40	37					0	0	0.000509022	0	0
ST5	6764	broad.mit.edu	37	11	8732710	8732710	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:8732710G>A	ENST00000534127.1	-	13	2626	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	ST5_ENST00000313726.6_Silent_p.F747F|ST5_ENST00000357665.1_Silent_p.F747F|ST5_ENST00000526757.1_Silent_p.F327F|ST5_ENST00000526099.1_Silent_p.F260F|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Silent_p.F327F|ST5_ENST00000530991.1_Silent_p.F219F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	747	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGGCATCAGGGAAGCAAAACT	0.567000													29	1					0	0	0.000692331	0	0
CBLB	868	broad.mit.edu	37	3	105404212	105404212	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:105404212G>A	ENST00000264122.4	-	14	2474	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	CBLB_ENST00000403724.1_Missense_Mutation_p.S718F|CBLB_ENST00000405772.1_Missense_Mutation_p.S718F|CBLB_ENST00000394027.3_Missense_Mutation_p.S740F	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	718	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGAATTCAGGGAAACAGGGTG	0.403000			Mis S		AML								31	0					0	0	0.000339439	0	0
LAMB4	22798	broad.mit.edu	37	7	107752391	107752391	+	Splice_Site	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:107752391C>A	ENST00000388781.3	-	4	276	c.192_splice	c.e4-1	p.G65_splice	LAMB4_ENST00000388780.3_Splice_Site_p.G65_splice|LAMB4_ENST00000205386.4_Splice_Site_p.G65_splice|LAMB4_ENST00000414450.2_Splice_Site_p.G65_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	65	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTTGTTCCCCCTGGAAAACA	0.343000													26	29					2.44723e-14	3.83194e-13	0.000720815	1	0
PLXNC1	10154	broad.mit.edu	37	12	94634387	94634387	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:94634387C>T	ENST00000258526.4	+	11	2496	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	749					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATCCTTATCCTACATTGCTC	0.418000													78	89					0	0	0.000781405	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682655	7682655	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:7682655G>A	ENST00000446248.2	+	19	3644	c.3543G>A	c.(3541-3543)aaG>aaA	p.K1181K	CAMSAP3_ENST00000160298.4_Silent_p.K1154K	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1154	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGAAAAGCAAGGCCAACCACT	0.632000													28	28					0	0	0.00106085	0	0
EXOC7	23265	broad.mit.edu	37	17	74097430	74097430	+	Silent	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:74097430C>A	ENST00000607838.1	-	4	433	c.339G>T	c.(337-339)ctG>ctT	p.L113L	EXOC7_ENST00000589210.1_Silent_p.L113L|EXOC7_ENST00000335146.7_Silent_p.L113L|EXOC7_ENST00000467929.2_Silent_p.L72L|EXOC7_ENST00000332065.5_Silent_p.L113L|EXOC7_ENST00000406660.3_Silent_p.L113L|EXOC7_ENST00000411744.2_Silent_p.L113L|EXOC7_ENST00000405575.4_Silent_p.L113L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	113					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCATGCTTCCCAGGTACTCTT	0.537000													8	126					0.000157383	0.00241281	0.000157383	1	0
GRID1	2894	broad.mit.edu	37	10	87373170	87373170	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:87373170G>A	ENST00000327946.7	-	15	2680	c.2595C>T	c.(2593-2595)ccC>ccT	p.P865P	GRID1_ENST00000536331.1_Silent_p.P436P	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	865						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGACCTCCTTGGGGGTCTCCT	0.622000										Multiple Myeloma(13;0.14)			10	0					0	0	0.000978159	0	0
PCDH9	5101	broad.mit.edu	37	13	66878990	66878990	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:66878990C>T	ENST00000544246.1	-	5	4202	c.3511G>A	c.(3511-3513)Gac>Aac	p.D1171N	PCDH9_ENST00000328454.5_Missense_Mutation_p.D1137N|PCDH9_ENST00000377865.2_Missense_Mutation_p.D1171N|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.D1137N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1171					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACAAGCTTGTCCTTCTTCACC	0.502000													14	16					0	0	0.000566183	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815111	106815111	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:106815111C>T	ENST00000407775.2	+	8	3051	c.2801C>T	c.(2800-2802)tCc>tTc	p.S934F	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S802F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S665F|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S802F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	934					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTATTTTCATCCCACCTAGCA	0.418000													10	8					0	0	0.000151284	0	0
GOLGA7	51125	broad.mit.edu	37	8	41355112	41355112	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:41355112C>T	ENST00000357743.4	+	2	397	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	GOLGA7_ENST00000518270.1_Missense_Mutation_p.L66F|GOLGA7_ENST00000520817.1_Missense_Mutation_p.L66F|GOLGA7_ENST00000405786.2_Missense_Mutation_p.L66F	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	66						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CCAGTCATATCTCGAAGGTTG	0.383000													121	148					0	0	0.000781405	0	0
AMOT	154796	broad.mit.edu	37	X	112033944	112033944	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:112033944G>A	ENST00000371959.3	-	7	1992	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	AMOT_ENST00000371958.1_Missense_Mutation_p.R433W|AMOT_ENST00000304758.1_Missense_Mutation_p.R256W|AMOT_ENST00000524145.1_Missense_Mutation_p.R665W|AMOT_ENST00000371962.1_Missense_Mutation_p.R433W	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	665					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTTTCTCCCGAAGGAGCTCC	0.498000													60	236					0	0	0.000781405	0	0
ZNF672	79894	broad.mit.edu	37	1	249142360	249142360	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:249142360C>T	ENST00000306562.3	+	4	1633	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGCAGCGCTCCGACCTGGTG	0.697000													4	5					0	0	0.00024832	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50415234	50415234	+	Splice_Site	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:50415234C>T	ENST00000435965.1	-	16	1653	c.1479_splice	c.e16-1	p.G494_splice	CACNA2D2_ENST00000424201.2_Splice_Site_p.G494_splice|CACNA2D2_ENST00000423994.2_Splice_Site_p.G494_splice|CACNA2D2_ENST00000360963.3_Splice_Site_p.G425_splice|CACNA2D2_ENST00000479441.1_Splice_Site_p.G494_splice|CACNA2D2_ENST00000429770.1_Splice_Site_p.G494_splice|CACNA2D2_ENST00000266039.3_Splice_Site_p.G494_splice|CACNA2D2_ENST00000395083.1_Splice_Site_p.G494_splice			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	494	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AACCCCAGTCCCTGAAGGGAG	0.587000													34	0					0	0	0.00058488	0	0
PRKACG	5568	broad.mit.edu	37	9	71628010	71628010	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:71628010C>T	ENST00000377276.2	-	1	1029	c.999G>A	c.(997-999)gaG>gaA	p.E333E		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	333	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGAGCTCTTCCTCCTCGTAGT	0.502000													47	0					0	0	0.000781405	0	0
OR5D18	219438	broad.mit.edu	37	11	55587727	55587727	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:55587727G>A	ENST00000333976.4	+	1	642	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACCTTTAATGAAATCAGCAC	0.448000													26	33					0	0	0.000878237	0	0
ALG5	29880	broad.mit.edu	37	13	37559848	37559848	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:37559848G>A	ENST00000239891.3	-	6	543	c.477C>T	c.(475-477)atC>atT	p.I159I	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Silent_p.I129I|ALG5_ENST00000413537.2_Silent_p.I159I	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	159					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		CTGCCATAAGGATCTTTTCTC	0.368000													49	42					0	0	0.000781405	0	0
PHEX	5251	broad.mit.edu	37	X	22196406	22196406	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:22196406C>T	ENST00000379374.4	+	14	2064	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	PHEX_ENST00000535894.1_Missense_Mutation_p.A403V|PHEX_ENST00000418858.3_Missense_Mutation_p.A203V|PHEX_ENST00000537599.1_Missense_Mutation_p.A500V	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	500					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTTCAGAAGCCGACTACTTT	0.368000													21	25					0	0	0.00047179	0	0
FRAS1	80144	broad.mit.edu	37	4	79399090	79399090	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:79399090G>A	ENST00000264895.6	+	55	8413	c.7973G>A	c.(7972-7974)gGg>gAg	p.G2658E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2653	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCCCTGTTAGGGGAATTCACC	0.468000													6	6					0	0	8.12818e-05	0	0
ZNF761	388561	broad.mit.edu	37	19	53958948	53958948	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:53958948C>T	ENST00000454407.1	+	0	1640							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CACAAGTCATCCCTTACATGC	0.388000													70	90					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	32					0	0	0.000814825	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561796	11561796	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:11561796C>T	ENST00000294484.6	+	2	885	c.747C>T	c.(745-747)gcC>gcT	p.A249A	PTCHD2_ENST00000389575.3_Silent_p.A249A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	249					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGAGCCGTGCCCGCCGAGGCG	0.682000													9	5					0	0	0.000442599	0	0
GRHL2	79977	broad.mit.edu	37	8	102643864	102643864	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:102643864G>A	ENST00000251808.3	+	10	1595		c.e10-1		GRHL2_ENST00000395927.1_Splice_Site	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)							cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TTTCCTATCAGGGAGCAGAAA	0.433000													11	16					0	0	0.000673444	0	0
GUF1	60558	broad.mit.edu	37	4	44693752	44693752	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:44693752C>T	ENST00000281543.5	+	13	1743	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	517					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATATCTCTTTCCTTTGAATGA	0.318000													61	68					0	0	0.000781405	0	0
APLNR	187	broad.mit.edu	37	11	57003458	57003458	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:57003458C>T	ENST00000606794.1	-	1	1217	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	341						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTGACTTCTCCCCACTGCTG	0.637000													13	20					0	0	0.000151284	0	0
NFATC2	4773	broad.mit.edu	37	20	50139794	50139794	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:50139794G>A	ENST00000371564.3	-	2	1205	c.986C>T	c.(985-987)cCc>cTc	p.P329L	NFATC2_ENST00000414705.1_Missense_Mutation_p.P309L|NFATC2_ENST00000396009.3_Missense_Mutation_p.P329L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	329					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CACCGGCGAGGGGTCAGGGCT	0.677000													22	32					0	0	0.000375601	0	0
PCLO	27445	broad.mit.edu	37	7	82784917	82784917	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:82784917C>T	ENST00000423517.2	-	2	1377	c.1040G>A	c.(1039-1041)gGg>gAg	p.G347E	PCLO_ENST00000333891.8_Missense_Mutation_p.G347E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	320	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCACTGTCCCTGGTTGTTG	0.587000													16	14					0	0	0.000308642	0	0
CSMD3	114788	broad.mit.edu	37	8	114326961	114326961	+	Silent	SNP	A	A	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:114326961A>G	ENST00000297405.5	-	2	484	c.240T>C	c.(238-240)ggT>ggC	p.G80G	CSMD3_ENST00000455883.2_Silent_p.G80G|CSMD3_ENST00000352409.3_Silent_p.G80G|CSMD3_ENST00000343508.3_Silent_p.G40G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	80	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATGGAAAACCAGGGCTTT	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			64	95					0	0	0.000781405	0	0
WSB1	26118	broad.mit.edu	37	17	25628924	25628924	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:25628924T>G	ENST00000262394.2	+	2	467	c.151T>G	c.(151-153)Tgg>Ggg	p.W51G	WSB1_ENST00000579733.1_Intron|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000581185.1_Missense_Mutation_p.W51G|WSB1_ENST00000427287.2_Missense_Mutation_p.W20G|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000348811.2_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	51					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ATACTTTGCTTGGTCACAAGG	0.418000													102	106					0	0	0.000781405	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773753	25773753	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:25773753G>A	ENST00000377905.4	+	8	957	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Missense_Mutation_p.G50S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	280					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGTTCACCAGGCTGGTCTCT	0.453000													10	11					0	0	0.000978159	0	0
EHMT2	10919	broad.mit.edu	37	6	31864150	31864150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:31864150G>A	ENST00000395728.3	-	3	642	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Nonsense_Mutation_p.Q215*|EHMT2_ENST00000375530.4_Nonsense_Mutation_p.Q158*|EHMT2_ENST00000375537.4_Nonsense_Mutation_p.Q158*			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	158					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCAGCTCCCTGGGCTCCTGGC	0.602000													261	216					0	0	0.000781405	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863074	75863074	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:75863074A>T	ENST00000377636.3	-	20	4005	c.3659T>A	c.(3658-3660)tTa>tAa	p.L1220*	TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.L1212*|TBC1D4_ENST00000425511.1_Nonsense_Mutation_p.L384*|TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.L1157*	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1220						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTTTACCTGTAATTTTTCTAG	0.408000													15	13					0	0	0.000566183	0	0
DSCAM	1826	broad.mit.edu	37	21	41684158	41684158	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:41684158G>A	ENST00000400454.1	-	9	2389	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	638	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGCTCCCAGGGATTGGCCGG	0.532000													11	25					0	0	0.000219431	0	0
HAAO	23498	broad.mit.edu	37	2	43015740	43015740	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43015740C>T	ENST00000294973.6	-	2	143	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	30	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						TTGAGCTGCTCCTGGTGCCTG	0.577000													42	51					0	0	0.000781405	0	0
RERE	473	broad.mit.edu	37	1	8424277	8424277	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:8424277G>A	ENST00000337907.3	-	16	2213	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	RERE_ENST00000377464.1_Silent_p.L259L|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.L527L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	527					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTGCAAAGCAGGATGTTCTCC	0.582000													54	48					0	0	0.000781405	0	0
RXFP2	122042	broad.mit.edu	37	13	32367085	32367085	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:32367085G>A	ENST00000298386.2	+	16	1717	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G525E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	549						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGGATGGCGGGATTTTTAATA	0.388000													32	26					0	0	0.00058488	0	0
C3	718	broad.mit.edu	37	19	6712354	6712354	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:6712354C>T	ENST00000245907.6	-	11	1275	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	395					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGCACAGTGTCCTCGCCCTGG	0.622000													17	20					0	0	0.000566183	0	0
PREX2	80243	broad.mit.edu	37	8	69021652	69021652	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:69021652G>A	ENST00000288368.4	+	25	3217	c.2938_splice	c.e25-1	p.G980_splice		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	980					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCCTCAGGGAAACTGAGCC	0.423000													12	12					0	0	0.00010058	0	0
CT45A5	441521	broad.mit.edu	37	X	134948156	134948156	+	Splice_Site	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:134948156C>T	ENST00000370724.3	-	3	414		c.e3-1		CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Splice_Site	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5											endometrium(1)|large_intestine(2)|lung(6)	9						GTCATAAGCTCTGGTGAAACA	0.428000													232	280					0	0	0.000781405	0	0
INSIG2	51141	broad.mit.edu	37	2	118864324	118864324	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:118864324C>T	ENST00000245787.4	+	4	587	c.381C>T	c.(379-381)ttC>ttT	p.F127F	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	127					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGTGGATTTCGATAACAACA	0.378000													23	25					0	0	0.000295444	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961170	73961170	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:73961170C>T	ENST00000373468.1	-	3	3873	c.3222G>A	c.(3220-3222)ccG>ccA	p.P1074P	KIAA2022_ENST00000055682.5_Silent_p.P1074P			Q5QGS0	K2022_HUMAN	KIAA2022	1074					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.P1074P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGGGGTGTCCGGTGGGGACA	0.498000													23	69					0	0	0.000720815	0	0
ZNF99	7652	broad.mit.edu	37	19	22942286	22942286	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:22942286C>T	ENST00000397104.3	-	4	487	c.488G>A	c.(487-489)gGa>gAa	p.G163E	ZNF99_ENST00000596209.1_Missense_Mutation_p.G142E					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATATTTTTCCCTGGGTAGT	0.284000													25	37					0	0	0.000586117	0	0
GPR112	139378	broad.mit.edu	37	X	135430654	135430654	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:135430654C>T	ENST00000394143.1	+	6	5080	c.4789C>T	c.(4789-4791)Ccc>Tcc	p.P1597S	GPR112_ENST00000287534.4_Missense_Mutation_p.P1534S|GPR112_ENST00000370652.1_Missense_Mutation_p.P1597S|GPR112_ENST00000412101.1_Missense_Mutation_p.P1392S|GPR112_ENST00000394141.1_Missense_Mutation_p.P1392S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1597					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTTACCCCCAGGACTAC	0.413000													9	23					0	0	0.000442599	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454754	84454754	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:84454754C>T	ENST00000377084.2	-	1	1774	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	297						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGGCATGATCCTCTTGCCCA	0.557000													25	0					0	0	0.000720815	0	0
POTEA	340441	broad.mit.edu	37	8	43147644	43147644	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:43147644C>T	ENST00000522175.2	+	0	19							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTGAGGTTTCTCCAAAGCTG	0.547000													18	17					0	0	0.000958276	0	0
DOCK11	139818	broad.mit.edu	37	X	117700054	117700054	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:117700054G>A	ENST00000276204.6	+	8	854	c.780G>A	c.(778-780)atG>atA	p.M260I	DOCK11_ENST00000276202.7_Missense_Mutation_p.M260I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	260	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGCAGGAAATGGAGGAATGGT	0.398000													74	330					0	0	0.000781405	0	0
SPTBN5	51332	broad.mit.edu	37	15	42149846	42149846	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:42149846C>T	ENST00000320955.6	-	50	8516	c.8289G>A	c.(8287-8289)gaG>gaA	p.E2763E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2763					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCCCAGCTCCTCCAGTCGCT	0.632000													6	5					0	0	3.59834e-05	0	0
MRVI1	10335	broad.mit.edu	37	11	10647811	10647811	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:10647811G>A	ENST00000547195.1	-	8	1297	c.797C>T	c.(796-798)cCc>cTc	p.P266L	MRVI1_ENST00000531107.1_Missense_Mutation_p.P349L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P42L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P348L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P266L|MRVI1_ENST00000436272.1_Missense_Mutation_p.P330L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P42L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P357L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P42L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P266L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000558540.1_Missense_Mutation_p.P42L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	330					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAGGCTGGGGGACCCACTCC	0.697000													7	0					0	0	8.12818e-05	0	0
SULF1	23213	broad.mit.edu	37	8	70541837	70541837	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:70541837G>A	ENST00000260128.4	+	19	2924	c.2207G>A	c.(2206-2208)gGg>gAg	p.G736E	SULF1_ENST00000458141.2_Missense_Mutation_p.G736E|SULF1_ENST00000402687.4_Missense_Mutation_p.G736E|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.G736E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	736					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.G736E(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGAGGAAGGGGGAAGAGTGC	0.537000													56	53					0	0	0.000781405	0	0
HOXC6	3223	broad.mit.edu	37	12	54422381	54422381	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:54422381C>T	ENST00000243108.4	+	1	240	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	HOXC6_ENST00000394331.3_5'UTR|HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	26					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAACGTCGCCCTCAATTCCAC	0.567000													29	34					0	0	0.000184323	0	0
PLG	5340	broad.mit.edu	37	6	161132170	161132170	+	Silent	SNP	A	A	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:161132170A>G	ENST00000308192.9	+	4	417	c.354A>G	c.(352-354)acA>acG	p.T118T	PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Silent_p.T118T	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	118	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGTCCAAAACAAAAAATGGCA	0.433000													30	27					0	0	0.00058488	0	0
KIAA1586	57691	broad.mit.edu	37	6	56919413	56919413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:56919413G>T	ENST00000370733.4	+	4	2323	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	KIAA1586_ENST00000545356.1_Nonsense_Mutation_p.E679*	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	706							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAATAGTGCTGAAGCTGAAAG	0.269000													14	14					1.05317e-09	1.64588e-08	0.000219431	1	0
B4GALT1	2683	broad.mit.edu	37	9	33166892	33166892	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:33166892G>A	ENST00000379731.4	-	1	462	c.276C>T	c.(274-276)tcC>tcT	p.S92S	B4GALT1_ENST00000535206.1_Silent_p.S92S	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	92				SSQPRPGGDSSPVVDSGPGPASNLT -> GKHAKSSFKQFL LQIKELSNPIDLD (in Ref. 6; AAA68219).	oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GGCGCGGCTGGGAGGAGGCGC	0.741000													7	20					0	0	0.000157383	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	67					0	0	0.00024832	0	0
TNRC18	84629	broad.mit.edu	37	7	5396874	5396874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:5396874G>A	ENST00000399537.4	-	16	5215	c.4867C>T	c.(4867-4869)Cag>Tag	p.Q1623*	TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Q1623*			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1623							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AACTGCTCCTGGTCGCTGGCC	0.507000													9	12					0	0	0.000978159	0	0
NMD3	51068	broad.mit.edu	37	3	160942812	160942812	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:160942812C>T	ENST00000460469.1	+	2	594	c.139C>T	c.(139-141)Ccg>Tcg	p.P47S	NMD3_ENST00000472947.1_Missense_Mutation_p.P47S|NMD3_ENST00000478160.1_Intron|NMD3_ENST00000351193.2_Missense_Mutation_p.P47S			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	47					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CCAAGGTATTCCGAAACAAGT	0.413000													66	3					0	0	0.000781405	0	0
FAM120C	54954	broad.mit.edu	37	X	54209119	54209119	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:54209119G>A	ENST00000375180.2	-	1	569	c.513C>T	c.(511-513)ttC>ttT	p.F171F	FAM120C_ENST00000477084.1_Silent_p.F171F|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Silent_p.F171F	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	171										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGCCCCCCGGGAACATGACCA	0.682000													12	44					0	0	0.000308642	0	0
ZNF792	126375	broad.mit.edu	37	19	35450180	35450180	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:35450180G>A	ENST00000404801.1	-	4	965	c.579C>T	c.(577-579)ggC>ggT	p.G193G	ZNF792_ENST00000605484.1_Silent_p.G126G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGAAGCCTGGCCCTCCTCCG	0.547000													144	150					0	0	0.000781405	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561797	11561797	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:11561797C>T	ENST00000294484.6	+	2	886	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R250C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	250					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGCCGTGCCCGCCGAGGCGC	0.687000													9	5					0	0	0.000442599	0	0
AAK1	22848	broad.mit.edu	37	2	69704072	69704072	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:69704072C>A	ENST00000409085.4	-	21	3107	c.2731G>T	c.(2731-2733)Gac>Tac	p.D911Y	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	911						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCACCTTGTCCGAGCCCTCA	0.433000													17	20					8.10497e-08	1.25689e-06	0.000175454	1	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138713490	138713490	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:138713490T>C	ENST00000275766.1	-	3	729	c.718A>G	c.(718-720)Acc>Gcc	p.T240A		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	240										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TGCTTGTAGGTGGAGATTATC	0.423000													37	44					0	0	0.000270559	0	0
DNAH5	1767	broad.mit.edu	37	5	13781030	13781030	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:13781030G>A	ENST00000265104.4	-	53	8963	c.8859C>T	c.(8857-8859)ctC>ctT	p.L2953L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2953	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCGACCAGGAGGGCATTTC	0.458000									Kartagener syndrome				10	2					0	0	0.000442599	0	0
RP1L1	94137	broad.mit.edu	37	8	10464964	10464964	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:10464964G>T	ENST00000382483.3	-	4	6867	c.6644C>A	c.(6643-6645)cCg>cAg	p.P2215Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2215					intracellular signal transduction			p.P2215Q(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCCGGGGCCTCTAC	0.632000													8	212					0.000442599	0.00677253	0.000442599	1	0
OR4A5	81318	broad.mit.edu	37	11	51412124	51412124	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:51412124G>A	ENST00000319760.6	-	1	324	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTTGGAAGGAAATAGTCTT	0.438000													8	10					0	0	0.000157383	0	0
CORO2A	7464	broad.mit.edu	37	9	100892098	100892098	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:100892098G>A	ENST00000343933.5	-	8	1202	c.945C>T	c.(943-945)tcC>tcT	p.S315S	CORO2A_ENST00000375077.4_Silent_p.S315S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	315					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTGGGTTATAGGAGCGGTACT	0.577000													36	4					0	0	0.000589545	0	0
PRODH2	58510	broad.mit.edu	37	19	36304113	36304113	+	Missense_Mutation	SNP	G	G	A	rs145723152		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:36304113G>A	ENST00000301175.3	-	1	88	c.71C>T	c.(70-72)aCc>aTc	p.T24I		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	24					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			tgaaaatacggttctcacgtt	0.423000													17	19					0	0	0.000422831	0	0
TLN2	83660	broad.mit.edu	37	15	63089500	63089500	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:63089500C>A	ENST00000561311.1	+	47	6363	c.6133C>A	c.(6133-6135)Ctg>Atg	p.L2045M	TLN2_ENST00000306829.6_Missense_Mutation_p.L2045M			Q9Y4G6	TLN2_HUMAN	talin 2	2045					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCCTGACAAGCTGGCCCAGGC	0.627000													41	54					6.21074e-16	9.76285e-15	0.000589545	1	0
ANP32D	23519	broad.mit.edu	37	12	48866516	48866516	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:48866516C>T	ENST00000266594.1	+	1	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	23										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAACTTTTCCTGGACAACA	0.453000													51	84					0	0	0.000781405	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29909234	29909234	+	Silent	SNP	G	G	A	rs144297281	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:29909234G>A	ENST00000308713.5	-	2	678	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	SEZ6L2_ENST00000346932.5_Silent_p.L51L|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Silent_p.L51L|SEZ6L2_ENST00000537485.1_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	51						endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTTCAGCCAGGGCCTCAGAG	0.632000													16	33					0	0	0.000308642	0	0
C16orf45	89927	broad.mit.edu	37	16	15677012	15677012	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:15677012G>A	ENST00000300006.4	+	5	778		c.e5-1		C16orf45_ENST00000565913.1_Splice_Site|C16orf45_ENST00000561692.1_Splice_Site|C16orf45_ENST00000452191.2_Splice_Site|C16orf45_ENST00000566490.1_Intron	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TACTTTCACAGGGAGCAAGAA	0.378000													24	103					0	0	0.000375601	0	0
FBXW7	55294	broad.mit.edu	37	4	153247170	153247170	+	Silent	SNP	G	G	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:153247170G>C	ENST00000281708.4	-	10	2861	c.1632C>G	c.(1630-1632)gtC>gtG	p.V544V	FBXW7_ENST00000296555.5_Silent_p.V426V|FBXW7_ENST00000603841.1_Silent_p.V544V|FBXW7_ENST00000263981.5_Silent_p.V464V|FBXW7_ENST00000393956.3_Silent_p.V368V|FBXW7_ENST00000603548.1_Silent_p.V544V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	544					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTAATGAATAGACTCTATTAG	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								35	2					0	0	0.00111076	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046823	42046823	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:42046823G>A	ENST00000372584.1	-	3	4660	c.3646C>T	c.(3646-3648)Ccc>Tcc	p.P1216S	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1216S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1216S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1216S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1216					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCCTGAAGGGGATGTTGGCT	0.582000													27	25					0	0	0.00106085	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139977	64139977	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:64139977C>T	ENST00000545618.1	-	4	930	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.E128K|ZC4H2_ENST00000337990.2_Missense_Mutation_p.E105K|ZC4H2_ENST00000447788.2_Missense_Mutation_p.E128K			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	128							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAAAGCTTCTCCTCTTCTTCA	0.532000													16	58					0	0	0.000958276	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552668	173552668	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:173552668C>T	ENST00000367714.3	-	6	1039	c.617G>A	c.(616-618)aGa>aAa	p.R206K	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R104K|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	206					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AAAGTGGATTCTGTTGCCCCG	0.274000													29	27					0	0	0.000227799	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1																						aaaacataCATTCTTAGAATA	0.299000													4	20					0	0	3.59834e-05	0	0
KIF17	57576	broad.mit.edu	37	1	21009241	21009241	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:21009241C>T	ENST00000247986.2	-	11	2678	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	KIF17_ENST00000400463.3_Missense_Mutation_p.E790K|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.E690K			Q9P2E2	KIF17_HUMAN	kinesin family member 17	790					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCGCTGTCCTCATCCGAGTTC	0.607000													29	28					0	0	0.000184323	0	0
C3AR1	719	broad.mit.edu	37	12	8211871	8211871	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:8211871G>A	ENST00000307637.4	-	2	1114	c.911C>T	c.(910-912)tCc>tTc	p.S304F		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	304					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CTCGTAGAAGGAATTGCTAGA	0.448000													81	70					0	0	0.000781405	0	0
SVEP1	79987	broad.mit.edu	37	9	113251994	113251994	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:113251994G>A	ENST00000401783.2	-	9	2202	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	SVEP1_ENST00000374469.1_Silent_p.I599I|SVEP1_ENST00000302728.8_Silent_p.I622I|SVEP1_ENST00000374461.1_Silent_p.I599I|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	622	HYR 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCGTGTATACGATAGCAACAT	0.428000													9	1					0	0	0.000274275	0	0
TOP1	7150	broad.mit.edu	37	20	39750723	39750723	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:39750723G>T	ENST00000361337.2	+	20	2373	c.2123G>T	c.(2122-2124)cGa>cTa	p.R708L	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	708					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GCCACAGACCGAGAGGAAAAT	0.473000			T	NUP98	AML*								43	53					1.8453e-21	2.91203e-20	0.000509022	1	0
CYP2C8	1558	broad.mit.edu	37	10	96805651	96805651	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:96805651C>T	ENST00000371270.3	-	6	971	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C8_ENST00000535898.1_Missense_Mutation_p.D191N|CYP2C8_ENST00000539050.1_Missense_Mutation_p.D207N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	293					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAAATAGATCAGCTACAGTG	0.433000													26	1					0	0	0.000878237	0	0
MMP19	4327	broad.mit.edu	37	12	56230896	56230896	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:56230896C>T	ENST00000394182.1	-	4	592	c.593G>A	c.(592-594)gGg>gAg	p.G198E	MMP19_ENST00000548629.1_Missense_Mutation_p.G461E|MMP19_ENST00000322569.4_Missense_Mutation_p.G484E|MMP19_ENST00000409200.3_3'UTR			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	484					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGTGGTATTCCCACCTGATGG	0.502000													105	123					0	0	0.000781405	0	0
C2orf16	84226	broad.mit.edu	37	2	27804563	27804563	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:27804563A>T	ENST00000408964.2	+	1	5175	c.5124A>T	c.(5122-5124)agA>agT	p.R1708S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1708	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTCTGAGAGAAGACATCACA	0.582000													98	102					0	0	0.000781405	0	0
CLDN6	9074	broad.mit.edu	37	16	3065551	3065551	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:3065551G>C	ENST00000396925.1	-	3	900	c.472C>G	c.(472-474)Cgg>Ggg	p.R158G	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.R158G			P56747	CLD6_HUMAN	claudin 6	158					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCAGCTCCCGCTTTTGGGCC	0.647000													4	11					0	0	3.59834e-05	0	0
MRPL52	122704	broad.mit.edu	37	14	23299432	23299432	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:23299432C>T	ENST00000355151.5	+	3	156	c.126C>T	c.(124-126)ccC>ccT	p.P42P	MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000397505.2_Silent_p.P42P|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000432849.3_Silent_p.P41P|MRPL52_ENST00000397496.3_Silent_p.P41P|MRPL52_ENST00000556840.1_5'UTR	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	42					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GCTACGGGCCCCTTACCGAGC	0.607000													50	68					0	0	0.000781405	0	0
PEBP1	5037	broad.mit.edu	37	12	118582479	118582479	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:118582479C>T	ENST00000261313.2	+	4	787	c.435C>T	c.(433-435)caC>caT	p.H145H	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	145							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGAGACCACCGTGGCAAAT	0.592000													25	20					0	0	0.000720815	0	0
STAU1	6780	broad.mit.edu	37	20	47733717	47733717	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:47733717C>T	ENST00000371828.3	-	12	1840	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	STAU1_ENST00000371792.1_Silent_p.Q443Q|STAU1_ENST00000371802.1_Silent_p.Q451Q|STAU1_ENST00000371856.2_Silent_p.Q526Q|STAU1_ENST00000340954.7_Silent_p.Q445Q|STAU1_ENST00000360426.4_Silent_p.Q445Q|STAU1_ENST00000347458.5_Silent_p.Q445Q	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	526						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCAGAGGTGGCTGAGAGGAGC	0.468000													36	38					0	0	0.000814825	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50657236	50657236	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:50657236C>T	ENST00000248846.5	-	21	4821	c.4717G>A	c.(4717-4719)Gac>Aac	p.D1573N	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1573					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCGGGGTGTCCCCATGCAGG	0.642000													19	28					0	0	0.00047179	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713822	70713822	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:70713822C>T	ENST00000530196.1	-	0	696					NR_003951.1																						TCTTCAAATTCCAACTGTTGG	0.443000													23	15					0	0	0.000295444	0	0
SMG6	23293	broad.mit.edu	37	17	2203327	2203327	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:2203327G>A	ENST00000544865.1	-	2	1137	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SMG6_ENST00000263073.5_Silent_p.S240S			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	240	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGCGCTTTGCGGAGCCCGGCC	0.627000													47	49					0	0	0.000781405	0	0
C8orf47	203111	broad.mit.edu	37	8	99101486	99101486	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:99101486G>A	ENST00000318528.3	+	2	600	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	81										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			ACCCCTCCAAGAACAGCCCCT	0.527000													36	55					0	0	0.000228196	0	0
PPP4C	5531	broad.mit.edu	37	16	30096328	30096328	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:30096328C>T	ENST00000279387.7	+	9	1037	c.869C>T	c.(868-870)cCc>cTc	p.P290L	PPP4C_ENST00000561610.1_Missense_Mutation_p.P290L	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	290					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GAGGCTGCTCCCCAAGAGACA	0.637000													22	62					0	0	0.000720815	0	0
FAM47C	442444	broad.mit.edu	37	X	37028201	37028201	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:37028201A>G	ENST00000358047.3	+	1	1770	c.1718A>G	c.(1717-1719)gAg>gGg	p.E573G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	573										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCCGCCCGGAGCCTCCCGAT	0.637000													53	61					0	0	0.000781405	0	0
PRRG2	5639	broad.mit.edu	37	19	50086975	50086975	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:50086975G>A	ENST00000246794.5	+	3	430		c.e3+1		PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2							extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CACTCTCACGGTGAGGGCCTC	0.592000													33	31					0	0	0.000491102	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657021	46657021	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:46657021G>A	ENST00000253255.5	-	1	2198	c.2199C>T	c.(2197-2199)ctC>ctT	p.L733L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	733	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGTGTTTTCGGAGATTGACTC	0.393000													58	71					0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	3205660	3205660	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:3205660C>T	ENST00000520002.1	-	23	3886	c.3331G>A	c.(3331-3333)Gga>Aga	p.G1111R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G1111R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1111R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1110R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1110R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1111R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1110R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1111	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCATTTCCTTTGACACTT	0.338000													15	20					0	0	0.00074312	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42169531	42169531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:42169531C>T	ENST00000444063.1	+	18	2332	c.2200C>T	c.(2200-2202)Cag>Tag	p.Q734*	L3MBTL1_ENST00000427442.2_Intron|L3MBTL1_ENST00000373135.3_Intron|L3MBTL1_ENST00000373134.1_Nonsense_Mutation_p.Q739*|L3MBTL1_ENST00000418998.1_Intron			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	0	SAM.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GTGCCCTCCCCAGCGTCACTT	0.582000													18	12					0	0	0.000566183	0	0
BSN	8927	broad.mit.edu	37	3	49689992	49689992	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:49689992C>T	ENST00000296452.4	+	5	3117	c.3003C>T	c.(3001-3003)tcC>tcT	p.S1001S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1001					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCTGTCCTCCCTAGAGGAGG	0.667000													21	1					0	0	0.00047179	0	0
NLRP1	22861	broad.mit.edu	37	17	5486158	5486158	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:5486158G>A	ENST00000345221.3	-	2	834	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P94S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P94S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P94S|NLRP1_ENST00000572272.1_Missense_Mutation_p.P94S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P94S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	94					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGAATGAGGGAGAGTGGCCT	0.597000													5	12					0	0	3.59834e-05	0	0
CCL18	6362	broad.mit.edu	37	17	34397893	34397893	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:34397893C>T	ENST00000004921.3	+	2	217	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	52					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGAAACCAGCCCCCAGTGCCC	0.557000													23	18					0	0	0.000878237	0	0
PCLO	27445	broad.mit.edu	37	7	82785023	82785023	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:82785023C>T	ENST00000423517.2	-	2	1271	c.934G>A	c.(934-936)Gga>Aga	p.G312R	PCLO_ENST00000333891.8_Missense_Mutation_p.G312R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	302	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGGTTTTCCAGGAGTTGGT	0.527000													29	27					0	0	0.000878237	0	0
ZNF768	79724	broad.mit.edu	37	16	30536914	30536914	+	Nonsense_Mutation	SNP	T	T	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:30536914T>A	ENST00000380412.5	-	2	722	c.547A>T	c.(547-549)Aag>Tag	p.K183*	ZNF768_ENST00000562803.1_Nonsense_Mutation_p.K152*	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	183					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AAAGGACTCTTTTCCTCGGGG	0.527000													84	38					0	0	0.000781405	0	0
MGAT3	4248	broad.mit.edu	37	22	39883656	39883656	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr22:39883656G>A	ENST00000341184.6	+	2	519	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	102					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGTGCTGCCCGAGGACACCAC	0.701000													21	19					0	0	0.000295444	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858385	38858385	+	Missense_Mutation	SNP	G	G	A	rs147603617		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:38858385G>A	ENST00000409235.3	+	25	3014	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	967					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAGTGAGGACGAAATCTACCG	0.592000													134	124					0	0	0.000781405	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658441	72658441	+	RNA	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:72658441G>A	ENST00000425256.1	-	0	1470					NR_002164.1																						aattctcatcgacaccacgga	0.443000													34	35					0	0	0.00058488	0	0
TTN	7273	broad.mit.edu	37	2	179611551	179611551	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179611551C>T	ENST00000360870.5	-	46	15798	c.15576G>A	c.(15574-15576)agG>agA	p.R5192R	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8711	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATACCTTCCTTTTGGTCA	0.393000													8	11					0	0	0.000157383	0	0
CRB1	23418	broad.mit.edu	37	1	197398614	197398614	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:197398614C>T	ENST00000367397.1	+	4	1713	c.855C>T	c.(853-855)tcC>tcT	p.S285S	CRB1_ENST00000544212.1_Silent_p.S385S|CRB1_ENST00000367399.2_Silent_p.S792S|CRB1_ENST00000367400.3_Silent_p.S904S|CRB1_ENST00000535699.1_Silent_p.S880S|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	904	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTGCCATTCCCGGTGGGATG	0.507000													22	24					0	0	0.00047179	0	0
SALL3	27164	broad.mit.edu	37	18	76753670	76753670	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:76753670C>T	ENST00000536229.3	+	1	1989	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	SALL3_ENST00000537592.2_Missense_Mutation_p.S560F|SALL3_ENST00000575389.2_Missense_Mutation_p.S560F			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGCCCGCCTCCAGCGAGTGC	0.756000													6	6					0	0	8.12818e-05	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795709	68795709	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:68795709G>A	ENST00000508048.1	-	5	402	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.P124S|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.P127S|RP11-453E17.1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	127	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCAGTAGAGGGGAACTGGAAC	0.388000													45	41					0	0	0.000781405	0	0
FBXW7	55294	broad.mit.edu	37	4	153247304	153247304	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:153247304G>A	ENST00000281708.4	-	10	2727	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	FBXW7_ENST00000296555.5_Missense_Mutation_p.H382Y|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500Y|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420Y|FBXW7_ENST00000393956.3_Missense_Mutation_p.H324Y|FBXW7_ENST00000603548.1_Missense_Mutation_p.H500Y	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	500					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.H500N(1)|p.H420N(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTGCAACATGACCCATCAAA	0.463000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								47	0					0	0	0.000781405	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547555	44547555	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:44547555C>T	ENST00000260649.6	+	10	1911	c.1835C>T	c.(1834-1836)tCg>tTg	p.S612L	PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.S243L|SLC3A1_ENST00000409380.1_Missense_Mutation_p.S334L|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	612					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AATATGATTTCGGGCCTTCCC	0.403000													22	24					0	0	0.000295444	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962467	69962467	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:69962467T>C	ENST00000305231.7	+	1	275	c.229T>C	c.(229-231)Tat>Cat	p.Y77H	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.Y77H	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AATTGAAATTTATCCCACATC	0.368000													30	38					0	0	0.000279167	0	0
TAS1R1	80835	broad.mit.edu	37	1	6635078	6635078	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:6635078G>A	ENST00000333172.6	+	3	1079	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.V296M	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	296					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GACTGGCAAGGTGTGGGTCGC	0.647000													17	29					0	0	0.000175454	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927162	130927162	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:130927162G>A	ENST00000261655.4	-	8	847	c.684C>T	c.(682-684)ttC>ttT	p.F228F	RIMBP2_ENST00000535703.1_Silent_p.F136F|RIMBP2_ENST00000536002.1_Silent_p.F136F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	228	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAAAGTCCACGAAGTTGGAGG	0.602000													28	27					0	0	0.000409698	0	0
ANKRD28	23243	broad.mit.edu	37	3	15711867	15711867	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:15711867G>A	ENST00000399451.2	-	28	3439	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.S1057S	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	1024						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACTGCAATAGGAGCTAGGTT	0.438000													77	4					0	0	0.000781405	0	0
CNDP1	84735	broad.mit.edu	37	18	72234659	72234659	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:72234659C>T	ENST00000582365.1	+	5	684	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CNDP1_ENST00000358821.3_Silent_p.F249F			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	249					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACAGCTACTTCATGGTGGAGG	0.502000													34	30					0	0	0.00111076	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													6	84					0	0	0.000274275	0	0
ENAM	10117	broad.mit.edu	37	4	71508317	71508317	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:71508317C>T	ENST00000396073.3	+	9	1455	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	392					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGCAATTATCCCAATTATGC	0.473000													63	77					0	0	0.000781405	0	0
PRDM11	56981	broad.mit.edu	37	11	45245971	45245971	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:45245971G>A	ENST00000263765.4	+	8	1297	c.1048G>A	c.(1048-1050)Gcg>Acg	p.A350T	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A316T|PRDM11_ENST00000530656.1_Missense_Mutation_p.A350T|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	350										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ACTGGAATCTGCGAAGGTGGA	0.507000													88	4					0	0	0.000781405	0	0
FAM57A	79850	broad.mit.edu	37	17	641230	641230	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:641230C>T	ENST00000308278.8	+	3	587	c.351C>T	c.(349-351)aaC>aaT	p.N117N	FAM57A_ENST00000301324.8_Silent_p.N117N|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	117	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TAAGTCGAAACCGCCTCATGA	0.542000													60	75					0	0	0.000781405	0	0
BMP10	27302	broad.mit.edu	37	2	69098191	69098191	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:69098191G>A	ENST00000295379.1	-	1	458	c.300C>T	c.(298-300)ccC>ccT	p.P100P		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	100					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGTTGGCAGAGGGCATGGAGG	0.418000													59	61					0	0	0.000781405	0	0
SYK	6850	broad.mit.edu	37	9	93636979	93636979	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:93636979G>A	ENST00000375754.4	+	9	1177	c.1029G>A	c.(1027-1029)atG>atA	p.M343I	SYK_ENST00000375746.1_Missense_Mutation_p.M343I|SYK_ENST00000375747.1_Missense_Mutation_p.M320I|SYK_ENST00000375751.4_Missense_Mutation_p.M320I	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	343	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCCTACCCATGGACACAGAGG	0.567000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								69	3					0	0	0.000781405	0	0
NPHS1	4868	broad.mit.edu	37	19	36336419	36336419	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:36336419G>A	ENST00000378910.5	-	14	1780	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	NPHS1_ENST00000353632.6_Missense_Mutation_p.P594L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	594	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTCTCCGGGGTGGGGCGGC	0.716000													4	6					0	0	0.00024832	0	0
OR4C16	219428	broad.mit.edu	37	11	55339945	55339945	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:55339945C>T	ENST00000314634.3	+	1	342	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCATCCTCATCCTCACGGCTG	0.507000													61	64					0	0	0.000781405	0	0
ASNS	440	broad.mit.edu	37	7	97493627	97493627	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:97493627G>A	ENST00000175506.4	-	5	959	c.431C>T	c.(430-432)cCt>cTt	p.P144L	ASNS_ENST00000455086.1_Missense_Mutation_p.P61L|ASNS_ENST00000444334.1_Missense_Mutation_p.P123L|ASNS_ENST00000422745.1_Missense_Mutation_p.P123L|ASNS_ENST00000394309.3_Missense_Mutation_p.P144L|ASNS_ENST00000437628.1_Missense_Mutation_p.P61L|ASNS_ENST00000394308.3_Missense_Mutation_p.P144L	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	144	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTAAACAAAGGTCTGACTCC	0.338000													35	39					0	0	0.000228196	0	0
ARMC1	55156	broad.mit.edu	37	8	66525582	66525582	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:66525582A>T	ENST00000276569.3	-	4	606	c.362T>A	c.(361-363)tTt>tAt	p.F121Y	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	121					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CATCTCATTAAAACTATCACC	0.383000													70	57					0	0	0.000781405	0	0
CD33	945	broad.mit.edu	37	19	51729603	51729603	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:51729603G>A	ENST00000436584.2	+	3	410	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CD33_ENST00000391796.3_Missense_Mutation_p.D246N|CD33_ENST00000421133.2_Missense_Mutation_p.D119N|CD33_ENST00000262262.4_Missense_Mutation_p.D246N			P20138	CD33_HUMAN	CD33 molecule	246	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTTTCCAGGAGATGGCTCAGG	0.493000													49	51					0	0	0.000781405	0	0
SRC	6714	broad.mit.edu	37	20	36031704	36031704	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:36031704C>T	ENST00000373578.2	+	14	1882	c.1533C>T	c.(1531-1533)acC>acT	p.T511T	SRC_ENST00000358208.4_Silent_p.T511T|SRC_ENST00000445403.1_Silent_p.T511T|SRC_ENST00000373558.2_Silent_p.T517T|SRC_ENST00000360723.4_Silent_p.T517T|SRC_ENST00000373567.2_Silent_p.T511T|SRC_ENST00000477066.1_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	511	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	AGCGGCCCACCTTCGAGTACC	0.687000													6	10					0	0	8.12818e-05	0	0
FADS3	3995	broad.mit.edu	37	11	61643392	61643392	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:61643392G>A	ENST00000278829.2	-	11	1369	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	FADS3_ENST00000525588.1_Missense_Mutation_p.S378L|FADS3_ENST00000527697.1_Missense_Mutation_p.S291L|FADS3_ENST00000540820.1_3'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	406					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCACACAGCGACTTGACCAG	0.647000													38	43					0	0	0.000509022	0	0
AMOTL2	51421	broad.mit.edu	37	3	134079079	134079079	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:134079079C>T	ENST00000514516.1	-	7	2104	c.1926G>A	c.(1924-1926)atG>atA	p.M642I	AMOTL2_ENST00000513145.1_Missense_Mutation_p.M582I|AMOTL2_ENST00000422605.2_Missense_Mutation_p.M584I|AMOTL2_ENST00000249883.5_Missense_Mutation_p.M584I	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	584										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGCCGCATCCATGGCAAACT	0.597000													15	1					0	0	0.000566183	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910948	101910948	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:101910948A>G	ENST00000537097.1	+	6	2920	c.2107A>G	c.(2107-2109)Att>Gtt	p.I703V	GPRASP1_ENST00000444152.1_Missense_Mutation_p.I703V|GPRASP1_ENST00000415986.1_Missense_Mutation_p.I703V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.I703V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	703	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGAAGAGGACATTGTCAATTC	0.473000													257	91					0	0	0.000781405	0	0
MLXIP	22877	broad.mit.edu	37	12	122618089	122618089	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:122618089C>T	ENST00000319080.6	+	9	1419	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	MLXIP_ENST00000538698.1_Silent_p.L36L|MLXIP_ENST00000377037.2_Intron			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	429	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGCCCTTCCTCCCTGTCTTCA	0.652000													4	6					0	0	0.000602214	0	0
C2orf16	84226	broad.mit.edu	37	2	27804562	27804562	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:27804562G>A	ENST00000408964.2	+	1	5174	c.5123G>A	c.(5122-5124)aGa>aAa	p.R1708K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1708	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.R1708I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTCTGAGAGAAGACATCAC	0.582000													98	101					0	0	0.000781405	0	0
HERC1	8925	broad.mit.edu	37	15	63932498	63932498	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:63932498G>A	ENST00000443617.2	-	61	11841	c.11754C>T	c.(11752-11754)tcC>tcT	p.S3918S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3918					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGGATTCCAGGATGCAGGGT	0.507000													67	69					0	0	0.000781405	0	0
PHF8	23133	broad.mit.edu	37	X	54048724	54048724	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:54048724G>A	ENST00000338154.6	-	4	765	c.261C>T	c.(259-261)ttC>ttT	p.F87F	PHF8_ENST00000357988.5_Silent_p.F123F|PHF8_ENST00000338946.6_Silent_p.F87F|PHF8_ENST00000322659.8_Silent_p.F87F	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	123					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTCTCTGACGAACGTAGGGC	0.537000													73	262					0	0	0.000781405	0	0
LILRA6	79168	broad.mit.edu	37	19	54745699	54745699	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:54745699C>T	ENST00000440558.2	-	4	459	c.411G>A	c.(409-411)ggG>ggA	p.G137G	LILRA6_ENST00000419410.2_Silent_p.G137G|LILRA6_ENST00000396365.2_Silent_p.G137G|LILRA6_ENST00000270464.5_Silent_p.G137G|LILRA6_ENST00000391735.3_Silent_p.G137G|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.G137G					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCATATTCCCCCCTGAGGCCA	0.572000													29	73					0	0	0.000953801	0	0
UMODL1	89766	broad.mit.edu	37	21	43539232	43539232	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:43539232C>T	ENST00000400427.1	+	14	3051	c.2655C>T	c.(2653-2655)tcC>tcT	p.S885S	UMODL1_ENST00000400424.1_Silent_p.S757S|UMODL1_ENST00000408910.2_Silent_p.S829S|UMODL1_ENST00000408989.2_Silent_p.S957S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	829	SEA 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCGGGGCTCCCTGCCAGCCA	0.622000													35	54					0	0	0.00058488	0	0
EVPL	2125	broad.mit.edu	37	17	74003575	74003575	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:74003575G>A	ENST00000301607.3	-	22	5964	c.5711C>T	c.(5710-5712)aCc>aTc	p.T1904I	EVPL_ENST00000586740.1_Missense_Mutation_p.T1926I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1904	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCGATGCCGGTGAAGGCCTT	0.647000													26	21					0	0	0.000184323	0	0
GALNT14	79623	broad.mit.edu	37	2	31152289	31152289	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:31152289G>A	ENST00000349752.5	-	11	1762	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.P380S|GALNT14_ENST00000356174.3_Missense_Mutation_p.P342S|GALNT14_ENST00000406653.1_Missense_Mutation_p.P355S|GALNT14_ENST00000420311.2_Missense_Mutation_p.P340S	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	375						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGGGCGAATGGCCGGGCAGCG	0.542000													8	28					0	0	0.000978159	0	0
HIF3A	64344	broad.mit.edu	37	19	46832713	46832713	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:46832713C>T	ENST00000339613.2	+	12	1777	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	HIF3A_ENST00000244303.6_Missense_Mutation_p.P495S|HIF3A_ENST00000600383.1_Missense_Mutation_p.P495S|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000377670.4_Missense_Mutation_p.P564S|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.P513S|HIF3A_ENST00000300862.3_Missense_Mutation_p.P562S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	564	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCATCCTCTCCCATGGCTGG	0.662000													7	5					0	0	8.12818e-05	0	0
CEP135	9662	broad.mit.edu	37	4	56885642	56885642	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:56885642C>T	ENST00000257287.4	+	23	3260	c.3136C>T	c.(3136-3138)Cat>Tat	p.H1046Y		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1046					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.H1046Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAAGAATTTCATTCTCACTT	0.358000													23	20					0	0	0.000375601	0	0
DNAH2	146754	broad.mit.edu	37	17	7660411	7660411	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:7660411C>T	ENST00000572933.1	+	13	3367	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S636F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	636	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTCAAAGGTCCCTTCTGATT	0.567000													162	147					0	0	0.000781405	0	0
MYL6	4637	broad.mit.edu	37	12	56552250	56552250	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:56552250G>A	ENST00000536128.1	+	1	105	c.65G>A	c.(64-66)gGg>gAg	p.G22E	MYL6_ENST00000549566.1_Missense_Mutation_p.G22E|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000551589.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGACGGGTGGGGGGCGAGGA	0.637000													18	13					0	0	0.00074312	0	0
PARP12	64761	broad.mit.edu	37	7	139754564	139754564	+	Splice_Site	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:139754564C>T	ENST00000263549.3	-	4	1634		c.e4-1			NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12							nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCTTTTCTTTCTGCAAAGAAA	0.423000													19	31					0	0	0.00074312	0	0
PCDH15	65217	broad.mit.edu	37	10	55955511	55955511	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:55955511T>G	ENST00000373965.2	-	11	1631	c.1237A>C	c.(1237-1239)Acc>Ccc	p.T413P	PCDH15_ENST00000373957.3_Missense_Mutation_p.T391P|PCDH15_ENST00000373955.1_Missense_Mutation_p.T413P|PCDH15_ENST00000320301.6_Missense_Mutation_p.T413P|PCDH15_ENST00000437009.1_Missense_Mutation_p.T413P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.T413P|PCDH15_ENST00000395432.2_Missense_Mutation_p.T376P|PCDH15_ENST00000395430.1_Missense_Mutation_p.T413P|PCDH15_ENST00000395438.1_Missense_Mutation_p.T413P|PCDH15_ENST00000361849.3_Missense_Mutation_p.T413P|PCDH15_ENST00000395440.1_Missense_Mutation_p.T413P|PCDH15_ENST00000395445.1_Missense_Mutation_p.T413P|PCDH15_ENST00000414778.1_Missense_Mutation_p.T418P|PCDH15_ENST00000409834.1_Missense_Mutation_p.T17P|PCDH15_ENST00000395433.1_Missense_Mutation_p.T391P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	413	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCGAAATGGTTGCTCCCACT	0.383000										HNSCC(58;0.16)			30	1					0	0	0.000279167	0	0
TMCO4	255104	broad.mit.edu	37	1	20097818	20097818	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:20097818G>A	ENST00000294543.6	-	5	578	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	TMCO4_ENST00000375122.2_Missense_Mutation_p.P113S|TMCO4_ENST00000375127.1_Missense_Mutation_p.P113S	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	113						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ATCACCGTCGGGTCGTCCTTC	0.478000													73	71					0	0	0.000781405	0	0
KCND2	3751	broad.mit.edu	37	7	119914695	119914695	+	Silent	SNP	G	G	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:119914695G>C	ENST00000331113.4	+	1	974	c.9G>C	c.(7-9)gcG>gcC	p.A3A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	3	Interaction with KCNIP2.				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.A3A(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCATGGCGGCGGGGGTGGCAG	0.607000													78	90					0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181740488	181740488	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:181740488G>A	ENST00000526775.1	+	35	5049	c.4884G>A	c.(4882-4884)cgG>cgA	p.R1628R	CACNA1E_ENST00000367570.1_Silent_p.R1647R|CACNA1E_ENST00000367573.2_Silent_p.R1647R|CACNA1E_ENST00000360108.3_Silent_p.R1628R|CACNA1E_ENST00000357570.5_Silent_p.R1598R|CACNA1E_ENST00000367567.4_Silent_p.R1254R|CACNA1E_ENST00000358338.5_Silent_p.R1579R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1647					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACAACTTCCGGAGTTTCTTTG	0.463000													4	9					0	0	0.000602214	0	0
ZNF831	128611	broad.mit.edu	37	20	57829289	57829289	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:57829289C>T	ENST00000371030.2	+	5	4525	c.4525C>T	c.(4525-4527)Cac>Tac	p.H1509Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1509						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCAGGAAATTCACAGTGCTGA	0.522000													17	15					0	0	0.000566183	0	0
LRP1B	53353	broad.mit.edu	37	2	141660609	141660609	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:141660609C>T	ENST00000389484.3	-	23	4617	c.3646G>A	c.(3646-3648)Gat>Aat	p.D1216N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1216					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTACAATAATCCACAATTTCA	0.433000										TSP Lung(27;0.18)			6	11					0	0	3.59834e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92087074	92087074	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:92087074C>A	ENST00000298047.6	+	1	1813	c.1796C>A	c.(1795-1797)gCa>gAa	p.A599E	FAT3_ENST00000541502.1_Missense_Mutation_p.A599E|FAT3_ENST00000409404.2_Missense_Mutation_p.A599E|FAT3_ENST00000525166.1_Missense_Mutation_p.A449E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	599	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACATCACAGCAGTCTCAGCG	0.393000										TCGA Ovarian(4;0.039)			91	113					1.32003e-40	2.09543e-39	0.000781405	1	0
TEX101	83639	broad.mit.edu	37	19	43920355	43920355	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:43920355G>A	ENST00000602198.1	+	5	665	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	TEX101_ENST00000598265.1_Missense_Mutation_p.G57R|TEX101_ENST00000253435.7_Missense_Mutation_p.G75R|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	57						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TTGTGACAAAGGGGCACTTTG	0.468000													32	39					0	0	0.00058488	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361117	70361117	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:70361117G>A	ENST00000305107.6	-	1	509	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	UGT2B4_ENST00000512583.1_Missense_Mutation_p.P155S|UGT2B4_ENST00000381096.3_Missense_Mutation_p.P19S|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	155					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCACCAAAGGGGAAAACAGCA	0.408000													10	14					0	0	0.000442599	0	0
CHTF18	63922	broad.mit.edu	37	16	840202	840202	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:840202G>A	ENST00000317063.6	+	6	1223	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	CHTF18_ENST00000455171.2_Missense_Mutation_p.R239Q|CHTF18_ENST00000262315.9_Missense_Mutation_p.R211Q|CHTF18_ENST00000491530.1_3'UTR			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	211					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GTCCCATGGCGAGGCGGTGGC	0.662000													5	3					0	0	3.59834e-05	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778646	5778646	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:5778646G>A	ENST00000381624.3	+	22	2417	c.2356G>A	c.(2356-2358)Gga>Aga	p.G786R	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	786						integral to membrane											AGAGCCCCCGGGACGCCACCG	0.592000													27	28					0	0	0.000227799	0	0
CCDC64B	146439	broad.mit.edu	37	16	3085370	3085370	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:3085370C>T	ENST00000572449.1	-	2	190	c.128G>A	c.(127-129)gGg>gAg	p.G43E	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.G43E			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	43										breast(1)|endometrium(2)|large_intestine(1)	4						CTCCTCAGGCCCTGGGCCCCC	0.667000													4	2					0	0	0.00024832	0	0
MPDZ	8777	broad.mit.edu	37	9	13110635	13110635	+	Splice_Site	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:13110635C>T	ENST00000319217.7	-	44	6076	c.5829_splice	c.e44+1	p.Q1943_splice	MPDZ_ENST00000541093.1_Splice_Site_p.Q177_splice|MPDZ_ENST00000541718.1_Splice_Site_p.Q1914_splice|MPDZ_ENST00000538841.1_Splice_Site_p.Q802_splice|MPDZ_ENST00000546205.1_Splice_Site_p.Q1957_splice|MPDZ_ENST00000381015.4_Splice_Site_p.Q1943_splice|MPDZ_ENST00000536827.1_Splice_Site_p.Q1881_splice|MPDZ_ENST00000447879.1_Splice_Site_p.Q1910_splice|MPDZ_ENST00000381022.2_Splice_Site_p.Q1914_splice	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1943	PDZ 12.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAAATCTTACCTGCATTTCAA	0.398000													8	13					0	0	0.000673444	0	0
EP400	57634	broad.mit.edu	37	12	132466717	132466717	+	Silent	SNP	G	G	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:132466717G>C	ENST00000333577.4	+	6	1840	c.1731G>C	c.(1729-1731)ggG>ggC	p.G577G	EP400_ENST00000389561.2_Silent_p.G541G|EP400_ENST00000330386.6_Silent_p.G541G|EP400_ENST00000389562.2_Silent_p.G540G|EP400_ENST00000332482.4_Silent_p.G504G			Q96L91	EP400_HUMAN	E1A binding protein p400	577					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTCCACGGGGCCTCCCGTGC	0.677000													57	52					0	0	0.000781405	0	0
ODAM	54959	broad.mit.edu	37	4	71068629	71068629	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:71068629G>A	ENST00000396094.2	+	9	853	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	269			E -> D (in a colorectal cancer sample; somatic mutation).		biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GCTCCCAGAAGAGAAGGTAGA	0.373000													3	6					0	0	6.4e-05	0	0
ABCA12	26154	broad.mit.edu	37	2	215831649	215831649	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:215831649G>A	ENST00000272895.7	-	39	6026	c.5807C>T	c.(5806-5808)tCc>tTc	p.S1936F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1618F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1936					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGGAAGGGAGTGATAGCC	0.388000													11	18					0	0	0.000978159	0	0
HSPB7	27129	broad.mit.edu	37	1	16344347	16344347	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:16344347C>T	ENST00000311890.9	-	1	938	c.112G>A	c.(112-114)Gac>Aac	p.D38N	HSPB7_ENST00000487046.1_Missense_Mutation_p.D38N|HSPB7_ENST00000375718.4_Splice_Site_p.D113_splice|HSPB7_ENST00000545268.1_Missense_Mutation_p.D38N|HSPB7_ENST00000406363.2_Missense_Mutation_p.D38N|HSPB7_ENST00000411503.1_Missense_Mutation_p.D38N	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	38	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGCGGGTCCTGGGCCGGG	0.622000													9	7					0	0	0.000978159	0	0
NLRP11	204801	broad.mit.edu	37	19	56321130	56321130	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:56321130C>T	ENST00000443188.1	-	5	1556	c.846G>A	c.(844-846)ggG>ggA	p.G282G	NLRP11_ENST00000589824.2_Silent_p.G282G|NLRP11_ENST00000592953.1_Silent_p.G183G|NLRP11_ENST00000360133.3_Silent_p.G282G|NLRP11_ENST00000589093.1_Silent_p.G282G	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	282	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTACATTATTCCCACGTGTGG	0.463000													28	40					0	0	0.00106085	0	0
CETN2	1069	broad.mit.edu	37	X	151998261	151998261	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:151998261C>T	ENST00000370277.3	-	2	113	c.47G>A	c.(46-48)cGa>cAa	p.R16Q		NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	16	Required for self-assembly.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CATTCTTTTTCGCTGAGAACT	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					63	203					0	0	0.000781405	0	0
SPOP	8405	broad.mit.edu	37	17	47688703	47688703	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:47688703G>A	ENST00000393331.3	-	8	1067	c.597C>T	c.(595-597)ttC>ttT	p.F199F	SPOP_ENST00000393328.2_Silent_p.F199F|SPOP_ENST00000503676.1_Silent_p.F199F|SPOP_ENST00000504102.1_Silent_p.F199F|SPOP_ENST00000347630.2_Silent_p.F199F	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	199	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGCAGTCTGTGAACCGGGAAT	0.468000										Prostate(2;0.17)			82	1					0	0	0.000781405	0	0
DFNB59	494513	broad.mit.edu	37	2	179318187	179318187	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179318187G>A	ENST00000409117.3	+	2	407	c.51G>A	c.(49-51)ggG>ggA	p.G17G	DFNB59_ENST00000375129.4_Silent_p.G17G	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	17					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GAGATGGAGGGAGATTAGTTC	0.393000													40	38					0	0	0.000781405	0	0
OR7E24	26648	broad.mit.edu	37	19	9362304	9362304	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:9362304C>T	ENST00000456448.1	+	1	699	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTTCTAATTTCTTCTGTGACC	0.398000													19	40					0	0	0.000229342	0	0
COG3	83548	broad.mit.edu	37	13	46067545	46067545	+	Silent	SNP	T	T	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:46067545T>G	ENST00000349995.5	+	12	1363	c.1251T>G	c.(1249-1251)gtT>gtG	p.V417V	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	417					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TCATTCATGTTATTCACTTAG	0.343000													70	90					0	0	0.000781405	0	0
OR4N2	390429	broad.mit.edu	37	14	20296145	20296145	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:20296145G>A	ENST00000568211.1	+	1	538	c.538G>A	c.(538-540)Gat>Aat	p.180_180insN	OR4N2_ENST00000315947.1_Missense_Mutation_p.D180N			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCTTCTGTGATGTCCCACA	0.542000													55	173					0	0	0.000781405	0	0
TRIM15	89870	broad.mit.edu	37	6	30138389	30138389	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:30138389C>T	ENST00000376694.4	+	5	1312	c.843C>T	c.(841-843)ttC>ttT	p.F281F	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	281	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TGAGGATGTTCTCAGGTAAAG	0.517000													38	39					0	0	0.000814825	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065900	247065900	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:247065900A>T	ENST00000366508.1	-	8	1285	c.1149T>A	c.(1147-1149)aaT>aaA	p.N383K	AHCTF1_ENST00000326225.3_Missense_Mutation_p.N357K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.N348K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	348	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACAATTTGGTATTACTCGTCT	0.423000													75	93					0	0	0.000781405	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459731	107459731	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:107459731C>T	ENST00000409382.3	-	2	1313	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G235R|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G235R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	235					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G235W(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AAGCGCACCCCGTGCTTGTTG	0.677000													11	7					0	0	0.000673444	0	0
ARMC5	79798	broad.mit.edu	37	16	31473666	31473666	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:31473666C>T	ENST00000457010.2	+	3	1499	c.798C>T	c.(796-798)agC>agT	p.S266S	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Silent_p.S266S|ARMC5_ENST00000408912.3_Silent_p.S361S|ARMC5_ENST00000538189.1_Silent_p.S298S|ARMC5_ENST00000563544.1_Silent_p.S266S	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	266							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGAACTCAGCCGAGGCTGCT	0.682000													5	7					0	0	3.59834e-05	0	0
CCNA1	8900	broad.mit.edu	37	13	37011825	37011825	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:37011825G>A	ENST00000418263.1	+	3	704	c.354G>A	c.(352-354)aaG>aaA	p.K118K	CCNA1_ENST00000255465.4_Silent_p.K119K|CCNA1_ENST00000449823.1_Silent_p.K75K|CCNA1_ENST00000440264.1_Silent_p.K75K|CCNA1_ENST00000463403.1_3'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	119					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGCTGGAAAGAAAGCACTCC	0.488000													39	40					0	0	0.00111076	0	0
TLN2	83660	broad.mit.edu	37	15	63131062	63131062	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:63131062G>A	ENST00000561311.1	+	57	7612	c.7382G>A	c.(7381-7383)gGa>gAa	p.G2461E	TLN2_ENST00000306829.6_Missense_Mutation_p.G2461E|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2461	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGCGGCAGGAAATGCTGTG	0.448000													40	47					0	0	0.000374591	0	0
WDR16	146845	broad.mit.edu	37	17	9515788	9515788	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:9515788C>T	ENST00000352665.5	+	8	1086	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	WDR16_ENST00000396219.3_Silent_p.V271V|WDR16_ENST00000299764.5_Silent_p.V349V	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	339						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AGGATATTGTCTTTCCATTGT	0.383000													19	35					0	0	0.000175454	0	0
NLRP9	338321	broad.mit.edu	37	19	56244763	56244763	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:56244763C>T	ENST00000332836.2	-	2	461	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	145						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CACAGTGTGTCGTCTAGCCGC	0.438000													48	54					0	0	0.000781405	0	0
SMG6	23293	broad.mit.edu	37	17	2203328	2203328	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:2203328G>A	ENST00000544865.1	-	2	1136	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SMG6_ENST00000263073.5_Missense_Mutation_p.S240F			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	240	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCTTTGCGGAGCCCGGCCT	0.632000													48	50					0	0	0.000781405	0	0
CCDC60	160777	broad.mit.edu	37	12	119943060	119943060	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:119943060G>A	ENST00000327554.2	+	7	1300	c.835G>A	c.(835-837)Gac>Aac	p.D279N	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	279										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACATTGAGGACAATGAGTC	0.522000													57	75					0	0	0.000781405	0	0
NFASC	23114	broad.mit.edu	37	1	204953197	204953197	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:204953197A>G	ENST00000367172.4	+	22	2841	c.2513A>G	c.(2512-2514)aAc>aGc	p.N838S	NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.N823S|NFASC_ENST00000338515.6_Missense_Mutation_p.N838S|NFASC_ENST00000338586.6_Missense_Mutation_p.N838S|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000539706.1_Missense_Mutation_p.N834S|NFASC_ENST00000404076.1_Missense_Mutation_p.N817S|NFASC_ENST00000404907.1_Missense_Mutation_p.N834S|NFASC_ENST00000513543.1_Missense_Mutation_p.N834S|NFASC_ENST00000367170.4_Missense_Mutation_p.N838S|NFASC_ENST00000360049.4_Missense_Mutation_p.N834S			O94856	NFASC_HUMAN	neurofascin	838	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGAGTCATGAACAGCACAGCC	0.572000													32	36					0	0	0.000339439	0	0
OSCAR	126014	broad.mit.edu	37	19	54603039	54603039	+	Splice_Site	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:54603039C>T	ENST00000284648.6	-	3	267	c.70_splice	c.e3+1	p.V24_splice	OSCAR_ENST00000356532.3_Splice_Site_p.V24_splice|OSCAR_ENST00000358375.4_Splice_Site_p.V24_splice|OSCAR_ENST00000391761.1_Intron|OSCAR_ENST00000351806.4_Intron|OSCAR_ENST00000391760.1_Splice_Site_p.A24_splice|OSCAR_ENST00000359649.4_Splice_Site_p.V24_splice			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	24	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGCTACTCACCAGACGGAGTG	0.453000													30	36					0	0	0.000279167	0	0
TREML1	340205	broad.mit.edu	37	6	41119031	41119031	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:41119031C>T	ENST00000373127.4	-	3	516	c.468G>A	c.(466-468)caG>caA	p.Q156Q	TREML1_ENST00000437044.2_Silent_p.Q45Q|TREML1_ENST00000426005.2_Silent_p.Q156Q	NM_001271807.1	NP_001258736.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	156					calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTTCTCATCCTGGCTGGGTT	0.522000													44	58					0	0	0.000781405	0	0
TREML2	79865	broad.mit.edu	37	6	41162337	41162337	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:41162337C>T	ENST00000483722.1	-	3	796	c.611G>A	c.(610-612)aGg>aAg	p.R204K		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	204					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCATGGTCCTCCTGGGTCC	0.612000													14	18					0	0	0.000219431	0	0
DDX18	8886	broad.mit.edu	37	2	118582670	118582670	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:118582670C>T	ENST00000263239.2	+	9	1489	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	454	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388000													47	59					0	0	0.000781405	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854511	18854511	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:18854511G>A	ENST00000538330.1	-	5	668	c.287C>T	c.(286-288)tCt>tTt	p.S96F	PLCZ1_ENST00000541695.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000266505.7_Intron|PLCZ1_ENST00000447925.2_Intron			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	317					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCCTAAAACAGATTCCAATAC	0.438000													25	24					0	0	0.000720815	0	0
LRCH4	4034	broad.mit.edu	37	7	100176342	100176342	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:100176342G>A	ENST00000310300.6	-	5	718	c.666C>T	c.(664-666)tcC>tcT	p.S222S	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	222					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCGGCAGAAGGAGACTGGGA	0.637000													20	20					0	0	0.000229342	0	0
OR4N5	390437	broad.mit.edu	37	14	20612573	20612573	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:20612573G>A	ENST00000333629.1	+	1	679	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCGTATAAGGGAGCACTCCTC	0.488000													17	14					0	0	0.000566183	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319870	21319870	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:21319870C>T	ENST00000583088.1	+	3	2111	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P406S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.P406S(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGGCCTCAGCCCCCAGGCCAG	0.662000										Prostate(3;0.18)			8	38					0	0	0.000157383	0	0
SLC9A3	6550	broad.mit.edu	37	5	480074	480074	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:480074G>A	ENST00000264938.3	-	10	1533	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.S499S	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	508						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGTCGAAGTGGGACCACCTGT	0.607000													39	0					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41427756	41427756	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:41427756C>T	ENST00000400454.1	-	29	5408	c.4931G>A	c.(4930-4932)cGg>cAg	p.R1644Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1644					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATCTGAAGTCCGGGTATTCTT	0.433000													49	85					0	0	0.000781405	0	0
KLHL4	56062	broad.mit.edu	37	X	86869004	86869004	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:86869004G>A	ENST00000373119.4	+	2	692	c.547G>A	c.(547-549)Gat>Aat	p.D183N	KLHL4_ENST00000373114.4_Missense_Mutation_p.D183N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	183	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACAACTATGTGATGTGCTACT	0.398000													16	48					0	0	0.000422831	0	0
SLC6A14	11254	broad.mit.edu	37	X	115569005	115569005	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:115569005G>A	ENST00000371900.4	+	2	184	c.96G>A	c.(94-96)gaG>gaA	p.E32E		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	32					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AAAATGATGAGAATCAGGACC	0.393000													81	257					0	0	0.000781405	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927739	43927739	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:43927739C>T	ENST00000282406.4	+	8	1752	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	548						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCACCGTTTTCCTTCTTGGGT	0.468000													194	225					0	0	0.000781405	0	0
ASIC5	51802	broad.mit.edu	37	4	156775294	156775294	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:156775294C>T	ENST00000537611.2	-	3	566	c.520G>A	c.(520-522)Ggt>Agt	p.G174S		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	174						integral to membrane|plasma membrane											AGATAAAAACCTTTGTTCCTG	0.368000													5	2					0	0	3.59834e-05	0	0
GRM8	2918	broad.mit.edu	37	7	126173922	126173922	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:126173922G>A	ENST00000339582.2	-	9	2322	c.1514C>T	c.(1513-1515)gCt>gTt	p.A505V	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.A505V|GRM8_ENST00000358373.3_Missense_Mutation_p.A505V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	505					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCTCTATGAGCCCACTGCAT	0.488000										HNSCC(24;0.065)			22	25					0	0	0.000295444	0	0
ATAD3C	219293	broad.mit.edu	37	1	1387775	1387775	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:1387775C>T	ENST00000378785.2	+	3	1178	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	61							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGAAGGATTCCGTGCCTTTG	0.577000													46	41					0	0	0.000781405	0	0
COMP	1311	broad.mit.edu	37	19	18898354	18898354	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:18898354C>T	ENST00000542601.2	-	9	1371	c.982G>A	c.(982-984)Gac>Aac	p.D328N	COMP_ENST00000222271.2_Missense_Mutation_p.D361N|COMP_ENST00000425807.1_Missense_Mutation_p.D308N			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	361			C -> R (in PSACH; mild form).		anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGTCTGTGTCCTTTTGGTCG	0.687000													50	86					0	0	0.000781405	0	0
ENPP1	5167	broad.mit.edu	37	6	132179870	132179870	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:132179870C>T	ENST00000360971.2	+	7	798	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	260	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTCCCCAATCACTACAGCAT	0.318000													16	25					0	0	0.00074312	0	0
APOB	338	broad.mit.edu	37	2	21235018	21235018	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:21235018G>A	ENST00000233242.1	-	26	4849	c.4722C>T	c.(4720-4722)acC>acT	p.T1574T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1574					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)	ACTTCCCATTGGTGTCAGATT	0.423000													204	239					0	0	0.000781405	0	0
WNK3	65267	broad.mit.edu	37	X	54324690	54324690	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:54324690T>A	ENST00000354646.2	-	7	1754	c.1316A>T	c.(1315-1317)aAa>aTa	p.K439I	WNK3_ENST00000375159.2_Missense_Mutation_p.K439I|WNK3_ENST00000375169.3_Missense_Mutation_p.K439I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	439					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTGTTTGCCTTTCAATTTTTT	0.383000													34	124					0	0	0.000339439	0	0
GABRA3	2556	broad.mit.edu	37	X	151336724	151336724	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:151336724G>A	ENST00000370314.4	-	10	1693	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	GABRA3_ENST00000370311.1_Silent_p.I485I|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Silent_p.I485I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	485					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATGCCCTTGATAGCTGACT	0.522000													16	67					0	0	0.000566183	0	0
FCER2	2208	broad.mit.edu	37	19	7763658	7763658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:7763658C>T	ENST00000346664.5	-	3	317	c.105G>A	c.(103-105)tgG>tgA	p.W35*	FCER2_ENST00000360067.4_Nonsense_Mutation_p.W34*|FCER2_ENST00000597921.1_Nonsense_Mutation_p.W35*	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	35					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GCAGCCCAGCCCACAGAGCGG	0.662000													7	11					0	0	0.000442599	0	0
CORO2A	7464	broad.mit.edu	37	9	100892099	100892099	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:100892099G>A	ENST00000343933.5	-	8	1201	c.944C>T	c.(943-945)tCc>tTc	p.S315F	CORO2A_ENST00000375077.4_Missense_Mutation_p.S315F	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	315					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGTTATAGGAGCGGTACTC	0.577000													35	4					0	0	0.000509022	0	0
PCSK6	5046	broad.mit.edu	37	15	101983852	101983852	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:101983852T>C	ENST00000348070.1	-	3	307	c.308A>G	c.(307-309)gAa>gGa	p.E103G	PCSK6_ENST00000344273.2_Missense_Mutation_p.E103G|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.E103G|PCSK6_ENST00000358417.3_Missense_Mutation_p.E103G	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	104					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTAGTAATCTTCCAGGTTTCC	0.438000													68	78					0	0	0.000781405	0	0
GABBR1	2550	broad.mit.edu	37	6	29572298	29572298	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:29572298G>A	ENST00000377034.4	-	22	3020	c.2685C>T	c.(2683-2685)aaC>aaT	p.N895N	GABBR1_ENST00000355973.3_Silent_p.N778N|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_Silent_p.N778N|GABBR1_ENST00000377016.4_Silent_p.N833N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	895	Interaction with ATF4 (By similarity).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CCAGTTCACGGTTCTCCTTCT	0.577000													90	103					0	0	0.000781405	0	0
ZNF142	7701	broad.mit.edu	37	2	219507627	219507627	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:219507627G>A	ENST00000411696.2	-	7	4391	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	ZNF142_ENST00000449707.1_Silent_p.F1204F			P52746	ZN142_HUMAN	zinc finger protein 142	1204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAAGTCACAGAAGGGGCACT	0.607000													33	34					0	0	0.00058488	0	0
ENTPD6	955	broad.mit.edu	37	20	25203498	25203498	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:25203498C>T	ENST00000360031.2	+	12	1249	c.1067C>T	c.(1066-1068)gCt>gTt	p.A356V	ENTPD6_ENST00000433259.2_Missense_Mutation_p.A323V|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Missense_Mutation_p.A340V|ENTPD6_ENST00000376652.4_Missense_Mutation_p.A357V	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	357						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GAGCTGTGTGCTGCCAGAGTG	0.587000													63	52					0	0	0.000781405	0	0
ZMYM3	9203	broad.mit.edu	37	X	70472589	70472589	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:70472589G>A	ENST00000373998.1	-	2	1214	c.517C>T	c.(517-519)Cct>Tct	p.P173S	ZMYM3_ENST00000373981.1_Missense_Mutation_p.P173S|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P173S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P173S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P173S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P173S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P173S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P173S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	173					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCCTGCCCAGGGGAGCCCCTT	0.572000													11	70					0	0	0.00010058	0	0
OR4N2	390429	broad.mit.edu	37	14	20295862	20295862	+	Silent	SNP	C	C	T	rs139052676	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:20295862C>T	ENST00000568211.1	+	1	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR4N2_ENST00000315947.1_Silent_p.F85F			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGACTTCCTCTCTGCGA	0.527000													82	168					0	0	0.000781405	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905588	180905588	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:180905588G>A	ENST00000367588.4	+	5	2598	c.2543G>A	c.(2542-2544)aGa>aAa	p.R848K	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R469K	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	848										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCTCCTTCAAGAAGCGCGGTT	0.637000													18	14					0	0	0.00074312	0	0
FMNL3	91010	broad.mit.edu	37	12	50043558	50043558	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:50043558G>T	ENST00000335154.5	-	18	2384	c.2151C>A	c.(2149-2151)ttC>ttA	p.F717L	FMNL3_ENST00000293590.5_Missense_Mutation_p.F717L|FMNL3_ENST00000550488.1_Missense_Mutation_p.F717L|FMNL3_ENST00000352151.5_Missense_Mutation_p.F666L	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	717	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCACCTTGCTGAAGAGCAGCA	0.612000													56	50					5.22555e-25	8.26252e-24	0.000781405	1	0
KCNA5	3741	broad.mit.edu	37	12	5154211	5154211	+	Missense_Mutation	SNP	G	G	A	rs148708451	byFrequency	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:5154211G>A	ENST00000252321.3	+	1	1127	c.898G>A	c.(898-900)Ggc>Agc	p.G300S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	300			G -> S (in a breast cancer sample; somatic mutation).			Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G300S(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGGGGCCAACGGCAGCGGGGT	0.706000													24	32					0	0	0.000375601	0	0
ESR2	2100	broad.mit.edu	37	14	64727386	64727386	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:64727386C>T	ENST00000557772.1	-	4	732	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	ESR2_ENST00000555278.1_Missense_Mutation_p.A245T|ESR2_ENST00000554572.1_Missense_Mutation_p.A245T|ESR2_ENST00000553796.1_Missense_Mutation_p.A245T|ESR2_ENST00000542956.1_Missense_Mutation_p.A245T|ESR2_ENST00000358599.5_Missense_Mutation_p.A245T|ESR2_ENST00000357782.2_Missense_Mutation_p.A245T|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.A245T|ESR2_ENST00000267525.6_Missense_Mutation_p.A245T|ESR2_ENST00000341099.4_Missense_Mutation_p.A245T	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	245	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CTTCTCTTGGCCTTGCCGGCA	0.667000													20	25					0	0	0.000175454	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227972	74227972	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:74227972G>A	ENST00000316292.9	-	6	2036	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	EEF1A1_ENST00000309268.6_Missense_Mutation_p.H349Y|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.H349Y	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	349						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGGCCTGGATGGTTCAGGATA	0.428000													38	43					0	0	0.000374591	0	0
KRT4	3851	broad.mit.edu	37	12	53207706	53207706	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:53207706C>T	ENST00000551956.1	-	1	629	c.137G>A	c.(136-138)gGa>gAa	p.G46E	KRT4_ENST00000458244.2_Missense_Mutation_p.G46E|KRT4_ENST00000293774.4_Missense_Mutation_p.G120E			B4DRS2	B4DRS2_HUMAN	keratin 4	46						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCTGCCAAATCCCCCAGAAGA	0.602000													88	81					0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41452109	41452109	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr21:41452109C>T	ENST00000400454.1	-	25	4867	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1464	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTATGATTTCACTTATGCGC	0.458000													65	68					0	0	0.000781405	0	0
SERPINB1	1992	broad.mit.edu	37	6	2833895	2833895	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:2833895G>A	ENST00000380739.5	-	7	1289	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	SERPINB1_ENST00000537185.1_Missense_Mutation_p.R212W			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	363					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		GAATTATGCCGAATAAAGAAA	0.443000													19	26					0	0	0.000175454	0	0
SCN10A	6336	broad.mit.edu	37	3	38793949	38793949	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:38793949G>A	ENST00000449082.2	-	11	1515	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	506					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GACCGGAAATGGAACACACTG	0.567000													9	0					0	0	0.000673444	0	0
GPR158	57512	broad.mit.edu	37	10	25464451	25464451	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:25464451C>T	ENST00000376351.3	+	1	461	c.102C>T	c.(100-102)tcC>tcT	p.S34S	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGCCGGATTCCCCTCGAGAGA	0.687000													46	32					0	0	0.000781405	0	0
WNK3	65267	broad.mit.edu	37	X	54324689	54324689	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:54324689T>A	ENST00000354646.2	-	7	1755	c.1317A>T	c.(1315-1317)aaA>aaT	p.K439N	WNK3_ENST00000375159.2_Missense_Mutation_p.K439N|WNK3_ENST00000375169.3_Missense_Mutation_p.K439N	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	439					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTGTTTGCCTTTCAATTTTT	0.378000													34	121					0	0	0.000339439	0	0
AIM1L	55057	broad.mit.edu	37	1	26650801	26650801	+	Splice_Site	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:26650801G>A	ENST00000527815.1	-	17	2006	c.1956_splice	c.e17-1	p.R653_splice	AIM1L_ENST00000308182.5_Splice_Site_p.R482_splice	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	482							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TAAACCCGGCGCTGGTGGCAG	0.627000													7	14					0	0	0.000157383	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349734	36349734	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:36349734G>A	ENST00000360202.5	+	4	688	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	KIRREL2_ENST00000262625.7_Missense_Mutation_p.G164R|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G164R|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G164R|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G114R	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	164	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTTCCGAGATGGGGTCCTGTT	0.582000													32	38					0	0	0.000409698	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:52321203C>T	ENST00000356297.4	-	17	3081	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G994E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	994					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACCGTGTTTCCCTCCCAGTG	0.637000													10	11					0	0	0.000978159	0	0
ALB	213	broad.mit.edu	37	4	74270068	74270068	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:74270068C>T	ENST00000295897.4	+	1	113	c.24C>T	c.(22-24)tcC>tcT	p.S8S	ALB_ENST00000503124.1_5'UTR|ALB_ENST00000415165.2_Silent_p.S8S|ALB_ENST00000401494.3_Silent_p.S8S|ALB_ENST00000509063.1_Silent_p.S8S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	8					bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCTTTATTTCCCTTCTTTTTC	0.398000													35	52					0	0	0.000270559	0	0
DNAH2	146754	broad.mit.edu	37	17	7671298	7671298	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:7671298C>T	ENST00000572933.1	+	23	5216	c.3756C>T	c.(3754-3756)ttC>ttT	p.F1252F	DNAH2_ENST00000389173.2_Silent_p.F1252F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1252	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGCCGGTTCCTGATCCTGC	0.582000													26	35					0	0	0.000878237	0	0
NR2E3	10002	broad.mit.edu	37	15	72104815	72104815	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:72104815C>T	ENST00000398840.2	+	0	901							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGGCCAAGAACCTGCCTGTGT	0.647000													11	17					0	0	0.000219431	0	0
FAM104B	90736	broad.mit.edu	37	X	55185590	55185590	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:55185590G>C	ENST00000425133.2	-	2	130	c.92C>G	c.(91-93)cCt>cGt	p.P31R	FAM104B_ENST00000489298.1_Missense_Mutation_p.P30R|FAM104B_ENST00000358460.4_Missense_Mutation_p.P31R|FAM104B_ENST00000477847.2_Missense_Mutation_p.P28R|FAM104B_ENST00000332132.4_Missense_Mutation_p.P31R|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000472571.2_Missense_Mutation_p.P31R	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	31										endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CTGAAAGATAGGGTTTCTCTT	0.378000													42	121					0	0	0.000781405	0	0
ANO8	57719	broad.mit.edu	37	19	17442127	17442127	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:17442127G>A	ENST00000159087.4	-	6	838	c.680C>T	c.(679-681)gCc>gTc	p.A227V		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	227						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TTCACACACGGCCTGCACCCA	0.632000													36	31					0	0	0.000319135	0	0
SLC44A5	204962	broad.mit.edu	37	1	75699690	75699690	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:75699690C>T	ENST00000370855.5	-	12	947	c.834G>A	c.(832-834)gtG>gtA	p.V278V	SLC44A5_ENST00000370859.3_Silent_p.V278V|SLC44A5_ENST00000535611.1_Silent_p.V148V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	278						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAATTCCAATCACACCAATCA	0.378000													14	0					0	0	0.000308642	0	0
CTAG2	30848	broad.mit.edu	37	X	153880762	153880762	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:153880762C>A	ENST00000247306.4	-	2	476	c.413G>T	c.(412-414)cGg>cTg	p.R138L	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	138				R -> W (in Ref. 1; CAA11117).		centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCCTGGTCCCGAACTGACAT	0.647000													37	172					1.52319e-26	2.41316e-25	0.000374591	1	0
CCDC64	92558	broad.mit.edu	37	12	120436384	120436384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:120436384G>A	ENST00000397558.2	+	2	489	c.489G>A	c.(487-489)tgG>tgA	p.W163*		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	163					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGGGAGTGGGAAGGCCGAG	0.463000													32	46					0	0	0.000814825	0	0
TRIM60	166655	broad.mit.edu	37	4	165961274	165961274	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr4:165961274C>T	ENST00000512596.1	+	3	266	c.50C>T	c.(49-51)cCc>cTc	p.P17L	TRIM60_ENST00000341062.5_Missense_Mutation_p.P17L|TRIM60_ENST00000508504.1_Missense_Mutation_p.P17L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	17						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTAGCTGTCCCATCTGTCTG	0.502000													35	33					0	0	0.000953801	0	0
MECR	51102	broad.mit.edu	37	1	29542534	29542534	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:29542534G>A	ENST00000373791.3	-	3	533	c.161C>T	c.(160-162)cCa>cTa	p.P54L	MECR_ENST00000263702.6_Missense_Mutation_p.P130L|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	130					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		AGCATTTGCTGGAATCACCCA	0.547000													44	43					0	0	0.000680045	0	0
GPR115	221393	broad.mit.edu	37	6	47681964	47681964	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr6:47681964G>A	ENST00000283303.2	+	6	1241	c.983G>A	c.(982-984)aGg>aAg	p.R328K	GPR115_ENST00000327753.3_Missense_Mutation_p.R328K|GPR115_ENST00000371220.1_Missense_Mutation_p.R385K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	328					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTACCAGAAAGGTTGCAAGAA	0.478000													51	45					0	0	0.000781405	0	0
PLIN4	729359	broad.mit.edu	37	19	4511666	4511666	+	Missense_Mutation	SNP	C	C	T	rs71263980		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:4511666C>T	ENST00000301286.3	-	3	2263	c.2264G>A	c.(2263-2265)gGg>gAg	p.G755E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	755	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCTGTGAGCCCAGTGGACAC	0.582000													25	55					0	0	0.000509022	0	0
PCM1	5108	broad.mit.edu	37	8	17823531	17823531	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:17823531C>T	ENST00000325083.8	+	19	3318	c.2879C>T	c.(2878-2880)tCg>tTg	p.S960L	PCM1_ENST00000519253.1_Missense_Mutation_p.S960L|PCM1_ENST00000524226.1_Missense_Mutation_p.S961L	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	960					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGCCCTTTTTCGGCAGATGAA	0.373000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								17	21					0	0	0.00074312	0	0
POU6F1	5463	broad.mit.edu	37	12	51586157	51586157	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:51586157G>A	ENST00000389243.4	-	9	1286	c.347C>T	c.(346-348)cCa>cTa	p.P116L	POU6F1_ENST00000550824.1_Missense_Mutation_p.P116L|POU6F1_ENST00000333640.10_Missense_Mutation_p.P116L			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	116	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCAGGTAATTGGGATAGGAGC	0.607000													64	67					0	0	0.000781405	0	0
RYR2	6262	broad.mit.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:237947421G>A	ENST00000366574.2	+	90	12726	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4121K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4143K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4137					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E4135K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCCGCATCGAAATCATGGG	0.512000													39	34					0	0	0.000228196	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332555	130332555	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:130332555C>T	ENST00000299164.2	+	4	1422	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	474	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGGGAAGGCCAAGGGACAGA	0.642000													37	49					0	0	0.00058488	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136898	40136898	+	Nonsense_Mutation	SNP	C	C	T	rs151083424		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:40136898C>T	ENST00000278198.2	-	2	2908	c.945G>A	c.(943-945)tgG>tgA	p.W315*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.W315*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.W315*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.W315*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	315	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.W315*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCTTTTATCCACCAGCTGA	0.493000													15	1					0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179429054	179429054	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179429054C>T	ENST00000589042.1	-	326	82029	c.81805G>A	c.(81805-81807)Gaa>Aaa	p.E27269K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18396K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18329K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25628K|TTN_ENST00000460472.2_Missense_Mutation_p.E18204K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24701K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25628	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCAATTTCATCTCTTGCA	0.398000													33	27					0	0	0.00058488	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100518	17100518	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:17100518G>A	ENST00000443236.1	-	13	1502	c.1471C>T	c.(1471-1473)Ctc>Ttc	p.L491F	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	444						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGCTGCCGAGGGAGAGGTAG	0.597000													28	24					0	0	0.000878237	0	0
UTP14A	10813	broad.mit.edu	37	X	129045770	129045770	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:129045770C>T	ENST00000394422.3	+	6	438	c.410C>T	c.(409-411)aCc>aTc	p.T137I	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.T83I|UTP14A_ENST00000425117.2_Intron	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	137					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCAATAAAACCGCACAAGTC	0.498000													116	116					0	0	0.000781405	0	0
TBC1D4	9882	broad.mit.edu	37	13	75863075	75863075	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:75863075A>T	ENST00000377636.3	-	20	4004	c.3658T>A	c.(3658-3660)Tta>Ata	p.L1220I	TBC1D4_ENST00000431480.2_Missense_Mutation_p.L1212I|TBC1D4_ENST00000425511.1_Missense_Mutation_p.L384I|TBC1D4_ENST00000377625.2_Missense_Mutation_p.L1157I	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1220						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTTACCTGTAATTTTTCTAGG	0.403000													15	13					0	0	0.000566183	0	0
PHEX	5251	broad.mit.edu	37	X	22196407	22196407	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:22196407C>T	ENST00000379374.4	+	14	2065	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	PHEX_ENST00000535894.1_Silent_p.A403A|PHEX_ENST00000418858.3_Silent_p.A203A|PHEX_ENST00000537599.1_Silent_p.A500A	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	500					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTCAGAAGCCGACTACTTTG	0.368000													21	24					0	0	0.00047179	0	0
ELOVL1	64834	broad.mit.edu	37	1	43829641	43829641	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:43829641G>A	ENST00000372458.3	-	8	903	c.786C>T	c.(784-786)ccC>ccT	p.P262P	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.P235P	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	262					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAAGTGCACGGGGCAGCCGCT	0.517000													33	53					0	0	0.00111076	0	0
SPOP	8405	broad.mit.edu	37	17	47688704	47688704	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:47688704A>T	ENST00000393331.3	-	8	1066	c.596T>A	c.(595-597)tTc>tAc	p.F199Y	SPOP_ENST00000393328.2_Missense_Mutation_p.F199Y|SPOP_ENST00000503676.1_Missense_Mutation_p.F199Y|SPOP_ENST00000504102.1_Missense_Mutation_p.F199Y|SPOP_ENST00000347630.2_Missense_Mutation_p.F199Y	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	199	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCAGTCTGTGAACCGGGAATT	0.473000										Prostate(2;0.17)			83	1					0	0	0.000781405	0	0
ANK3	288	broad.mit.edu	37	10	62039364	62039364	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr10:62039364G>A	ENST00000280772.1	-	2	339	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.R44*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.R33*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	50					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCCAGCTCGAGCTGCTCTT	0.338000													40	0					0	0	0.000319135	0	0
GNGT1	2792	broad.mit.edu	37	7	93540182	93540182	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:93540182G>A	ENST00000248572.5	+	3	325	c.177G>A	c.(175-177)gaG>gaA	p.E59E	GNGT1_ENST00000455502.1_3'UTR|GNGT1_ENST00000429473.1_Silent_p.E59E	NM_021955.3	NP_068774.1	P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	59					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCATCCCAGAGGACAAAAATC	0.378000													16	18					0	0	0.000422831	0	0
PHF2	5253	broad.mit.edu	37	9	96429453	96429453	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:96429453C>T	ENST00000359246.4	+	17	2646	c.2279C>T	c.(2278-2280)tCg>tTg	p.S760L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	760					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AGTGGGAGCTCGGCAGCTGGC	0.647000													24	1					0	0	0.00047179	0	0
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:137263039G>A	ENST00000453654.1	-	16	1314	c.775C>T	c.(775-777)Cga>Tga	p.R259*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.R559*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.R559*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R559*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338000													29	32					0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179634464	179634464	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:179634464C>T	ENST00000589042.1	-	37	9068	c.8844G>A	c.(8842-8844)tcG>tcA	p.S2948S	TTN_ENST00000360870.5_Silent_p.S2948S|TTN_ENST00000342175.6_Silent_p.S2902S|TTN_ENST00000359218.5_Silent_p.S2902S|TTN_ENST00000591111.1_Silent_p.S2948S|TTN_ENST00000460472.2_Silent_p.S2902S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S2948S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2686	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATTCTGCCGAGTCCTCTG	0.388000													44	60					0	0	0.000680045	0	0
ZNF48	197407	broad.mit.edu	37	16	30409370	30409370	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:30409370G>A	ENST00000320159.2	+	2	1175	c.799G>A	c.(799-801)Gga>Aga	p.G267R		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AGCTACCCAGGGACCGAAGGC	0.662000													24	13					0	0	0.000720815	0	0
IREB2	3658	broad.mit.edu	37	15	78757601	78757601	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:78757601C>T	ENST00000258886.8	+	4	430	c.281C>T	c.(280-282)cCa>cTa	p.P94L	IREB2_ENST00000560440.1_Missense_Mutation_p.P94L	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	94							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGTGGAATACCAGCAATGGTG	0.338000													21	25					0	0	0.000295444	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392257	1392257	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:1392257C>T	ENST00000324385.5	+	11	1193	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	BAIAP3_ENST00000421665.2_Silent_p.F310F|BAIAP3_ENST00000568887.1_Silent_p.F282F|BAIAP3_ENST00000562208.1_Silent_p.F287F|BAIAP3_ENST00000426824.3_Silent_p.F310F|BAIAP3_ENST00000397488.2_Silent_p.F327F|BAIAP3_ENST00000397489.1_Silent_p.F327F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	345					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCGATGACTTCCTGGGGTGCC	0.617000													16	9					0	0	0.00074312	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136619275	136619275	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:136619275C>T	ENST00000355849.5	+	7	1295	c.885C>T	c.(883-885)gcC>gcT	p.A295A	KHDRBS3_ENST00000520981.1_Silent_p.A68A	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	295	Tyr-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GCACCCCAGCCCAAAGGTAAG	0.423000													25	25					0	0	0.000720815	0	0
PPP3CC	5533	broad.mit.edu	37	8	22355571	22355571	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:22355571C>T	ENST00000240139.5	+	4	757	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PPP3CC_ENST00000397775.3_Missense_Mutation_p.R144W|PPP3CC_ENST00000518852.1_Missense_Mutation_p.R144W|PPP3CC_ENST00000289963.8_Missense_Mutation_p.R144W	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	144					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTTTCTGCTTCGGGGAAATCA	0.343000													35	45					0	0	0.000781405	0	0
ZC4H2	55906	broad.mit.edu	37	X	64140043	64140043	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:64140043C>T	ENST00000545618.1	-	4	864	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.E106K|ZC4H2_ENST00000337990.2_Missense_Mutation_p.E83K|ZC4H2_ENST00000447788.2_Missense_Mutation_p.E106K			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	106							metal ion binding|protein binding	p.E106*(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCACATGTTCTTTCAGTGGC	0.483000													26	119					0	0	0.000720815	0	0
AGO2	27161	broad.mit.edu	37	8	141572558	141572558	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:141572558G>A	ENST00000220592.5	-	4	624	c.512C>T	c.(511-513)tCc>tTc	p.S171F	AGO2_ENST00000519980.1_Missense_Mutation_p.S171F	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TCACCTCATGGATGGCAAGTG	0.642000													25	32					0	0	0.00106085	0	0
FZR1	51343	broad.mit.edu	37	19	3527805	3527805	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:3527805C>T	ENST00000441788.2	+	7	883	c.647C>T	c.(646-648)aCc>aTc	p.T216I	FZR1_ENST00000395095.3_Missense_Mutation_p.T216I|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	216					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCCTGTACCAGCCAGGTG	0.622000													16	17					0	0	0.000958276	0	0
CNTN4	152330	broad.mit.edu	37	3	2942419	2942419	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr3:2942419G>A	ENST00000397461.1	+	10	1375	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	CNTN4_ENST00000448906.2_Missense_Mutation_p.E3K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E112K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E331K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E3K|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.E331K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	331	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGCCATGGAAGAAAATGTCTT	0.378000													24	0					0	0	0.000586117	0	0
MSR1	4481	broad.mit.edu	37	8	16021634	16021634	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr8:16021634C>T	ENST00000350896.3	-	5	954	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MSR1_ENST00000381998.4_Missense_Mutation_p.D253N|MSR1_ENST00000445506.2_Missense_Mutation_p.D271N|MSR1_ENST00000355282.2_Missense_Mutation_p.D253N|MSR1_ENST00000262101.5_Missense_Mutation_p.D253N|MSR1_ENST00000536385.1_Missense_Mutation_p.D27N	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	253					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGTCTGAGATCATTAGTGATG	0.318000													19	21					0	0	0.000958276	0	0
GIGYF2	26058	broad.mit.edu	37	2	233677153	233677153	+	Missense_Mutation	SNP	G	G	A	rs12618284		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:233677153G>A	ENST00000373566.3	+	19	2322	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	GIGYF2_ENST00000409196.3_Missense_Mutation_p.D681N|GIGYF2_ENST00000452341.2_Missense_Mutation_p.D518N|GIGYF2_ENST00000409547.1_Missense_Mutation_p.D687N|GIGYF2_ENST00000409451.3_Missense_Mutation_p.D708N|GIGYF2_ENST00000373563.4_Missense_Mutation_p.D687N|GIGYF2_ENST00000409480.1_Missense_Mutation_p.D709N			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	687	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GTCCGTGCCAGATACTGGCTC	0.403000													26	27					0	0	0.000339439	0	0
IL16	3603	broad.mit.edu	37	15	81572043	81572043	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:81572043G>A	ENST00000394660.2	+	8	1369	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	IL16_ENST00000302987.4_Missense_Mutation_p.E337K	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	337	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTTCGCCTTGGAAAGCCCCTC	0.607000													15	16					0	0	0.00074312	0	0
C17orf74	201243	broad.mit.edu	37	17	7329509	7329509	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:7329509G>A	ENST00000333870.3	+	3	273	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	67						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TTCCCCAGATGAAATTCAGGC	0.562000													44	37					0	0	0.000781405	0	0
DCT	1638	broad.mit.edu	37	13	95095723	95095723	+	Missense_Mutation	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr13:95095723G>T	ENST00000377028.5	-	7	1761	c.1348C>A	c.(1348-1350)Caa>Aaa	p.Q450K	DCT_ENST00000446125.1_Missense_Mutation_p.Q483K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	450					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGCCAAGTTGGTCTGAGGTT	0.448000													15	53					6.31663e-08	9.8145e-07	0.000308642	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94919467	94919467	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:94919467T>G	ENST00000289495.5	+	18	3959	c.3743T>G	c.(3742-3744)aTg>aGg	p.M1248R	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.M1205R|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.M1050R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.M1326R|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.M1205R|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.M1050R	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1050						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAATGAAGATGTCTCTAGAG	0.423000										HNSCC(28;0.073)			12	19					0	0	0.00010058	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795732	133795732	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:133795732G>C	ENST00000321016.8	-	14	2166	c.1936C>G	c.(1936-1938)Cgc>Ggc	p.R646G	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R646G			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	646	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ATGATGTAGCGGTCGATGGGA	0.607000													9	17					0	0	0.000673444	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960162	117960162	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:117960162C>T	ENST00000310164.2	+	4	1462	c.955C>T	c.(955-957)Cct>Tct	p.P319S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGCTCAGTTTCCTTCCACCAG	0.547000													67	269					0	0	0.000781405	0	0
AP5M1	55745	broad.mit.edu	37	14	57741132	57741132	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:57741132C>T	ENST00000261558.3	+	2	651	c.245C>T	c.(244-246)tCc>tTc	p.S82F	AP5M1_ENST00000431972.2_Missense_Mutation_p.S96F	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	82					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											AATAAAACATCCATTTATGGA	0.393000													28	32					0	0	0.000878237	0	0
TXLNA	200081	broad.mit.edu	37	1	32653693	32653693	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr1:32653693C>A	ENST00000373609.1	+	4	1017	c.736C>A	c.(736-738)Cgt>Agt	p.R246S	TXLNA_ENST00000373610.3_Missense_Mutation_p.R246S			P40222	TXLNA_HUMAN	taxilin alpha	246					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAGCCTATGCCGTGAGCTGCA	0.587000													7	4					0.000157383	0.00241281	0.000157383	1	0
ZNF578	147660	broad.mit.edu	37	19	53014718	53014718	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:53014718C>T	ENST00000421239.2	+	6	1328	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TAGATGCCATCGTAGACTTCA	0.393000													67	76					0	0	0.000781405	0	0
GPHN	10243	broad.mit.edu	37	14	67589024	67589024	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:67589024C>T	ENST00000478722.1	+	17	2799	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	GPHN_ENST00000315266.5_Missense_Mutation_p.R527C|GPHN_ENST00000305960.9_Missense_Mutation_p.R496C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.R573C	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	527	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.R560C(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGACAGCAATCGTTCAACTCT	0.388000			T	MLL	AL								31	32					0	0	0.000184323	0	0
FOLR4	390243	broad.mit.edu	37	11	94039810	94039810	+	Silent	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:94039810C>T	ENST00000440961.2	+	2	314	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	90						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GGAAGCACTTCATCCAGGCTA	0.572000													50	52					0	0	0.000781405	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801294	140801294	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr5:140801294C>T	ENST00000398587.2	+	1	533	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PCDHGA11_ENST00000518882.1_Missense_Mutation_p.S167F|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTGAACTCCCTCCAGAGC	0.532000													16	0					0	0	0.000422831	0	0
CPEB1	64506	broad.mit.edu	37	15	83224663	83224663	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:83224663G>A	ENST00000562833.1	-	1	19	c.20C>T	c.(19-21)cCt>cTt	p.P7L	CPEB1_ENST00000398591.2_Silent_p.P197P|CPEB1_ENST00000261723.6_Silent_p.P275P|CPEB1_ENST00000423133.2_Silent_p.P197P|CPEB1_ENST00000568757.1_Silent_p.P197P|CPEB1_ENST00000563800.1_Silent_p.P299P|CPEB1_ENST00000564522.1_Silent_p.P197P|CPEB1_ENST00000398592.2_Silent_p.P46P|CPEB1_ENST00000450751.2_Silent_p.P197P|CPEB1_ENST00000568128.1_Silent_p.P272P|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000562019.1_Silent_p.P272P																							CTATGCTGAAGGGGTCTTTGG	0.587000													26	25					0	0	0.000878237	0	0
PLXNC1	10154	broad.mit.edu	37	12	94634386	94634386	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:94634386C>T	ENST00000258526.4	+	11	2495	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	749					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGATCCTTATCCTACATTGCT	0.423000													80	89					0	0	0.000781405	0	0
ESF1	51575	broad.mit.edu	37	20	13755845	13755845	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr20:13755845G>A	ENST00000202816.1	-	4	1214	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TAAATGAATTGAACAGAGCCA	0.318000													68	70					0	0	0.000781405	0	0
CRTC1	23373	broad.mit.edu	37	19	18886507	18886507	+	Silent	SNP	G	G	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:18886507G>T	ENST00000338797.6	+	14	1642	c.1617G>T	c.(1615-1617)ccG>ccT	p.P539P	CRTC1_ENST00000601916.1_Silent_p.P281P|CRTC1_ENST00000594658.1_Silent_p.P482P|CRTC1_ENST00000321949.8_Silent_p.P523P	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	523					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGTACAGCCCGGGCTCCACAC	0.657000													23	23					4.7796e-09	7.44068e-08	0.000720815	1	0
XIST	7503	broad.mit.edu	37	X	73053079	73053079	+	RNA	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:73053079C>T	ENST00000429829.1	-	0	11566					NR_001564.2																						CTACCTTTTTCTCCAGATAGC	0.428000													36	94					0	0	0.000437636	0	0
KIF1A	547	broad.mit.edu	37	2	241658603	241658603	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr2:241658603G>A	ENST00000498729.2	-	47	5280	c.5034C>T	c.(5032-5034)tcC>tcT	p.S1678S	KIF1A_ENST00000320389.7_Silent_p.S1577S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1577					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCCCTTCTTGGAAACGATCG	0.647000													58	51					0	0	0.000781405	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724746	38724746	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:38724746C>T	ENST00000342213.2	-	1	828	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	161	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGGTGGCATCGCATCTCCTT	0.682000													26	23					0	0	0.000227799	0	0
ZNF479	90827	broad.mit.edu	37	7	57187687	57187687	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:57187687T>C	ENST00000331162.4	-	5	1705	c.1435A>G	c.(1435-1437)Acc>Gcc	p.T479A		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCATAAGGGTTGAGGAGCAA	0.403000													27	16					0	0	0.000184323	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299827	125299827	+	Silent	SNP	A	A	G			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:125299827A>G	ENST00000538699.1	-	2	161	c.81T>C	c.(79-81)ggT>ggC	p.G27G	DCAF12L2_ENST00000360028.2_Silent_p.G27G	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	27										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGCCGCTAAACCCTGCGACG	0.692000													18	17					0	0	0.000132079	0	0
ZNF777	27153	broad.mit.edu	37	7	149129698	149129698	+	Silent	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:149129698G>A	ENST00000247930.4	-	6	1988	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTTCAGGCGGAAGCTCTTGC	0.647000													10	14					0	0	0.000978159	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064071	79064071	+	Silent	SNP	C	C	G	rs149694045	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:79064071C>G	ENST00000388820.4	-	15	2442	c.2232G>C	c.(2230-2232)ccG>ccC	p.P744P	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	744	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGTACTTCTCCGGGTCCTCGC	0.627000													30	15					0	0	0.000491102	0	0
TRMT1	55621	broad.mit.edu	37	19	13226814	13226814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:13226814G>A	ENST00000592062.1	-	4	877	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	TRMT1_ENST00000357720.4_Nonsense_Mutation_p.Q103*|TRMT1_ENST00000437766.1_Nonsense_Mutation_p.Q103*|TRMT1_ENST00000221504.8_Nonsense_Mutation_p.Q103*|TRMT1_ENST00000592892.1_5'UTR			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	103							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CACTCACTCTGGATTCCTTTG	0.597000													27	33					0	0	0.000339439	0	0
FANCM	57697	broad.mit.edu	37	14	45645631	45645631	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr14:45645631G>A	ENST00000267430.5	+	14	3759	c.3674G>A	c.(3673-3675)aGg>aAg	p.R1225K	FANCM_ENST00000542564.2_Missense_Mutation_p.R1199K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1225					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTGCTCTAGGGATTTATTT	0.348000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	32					0	0	0.00047179	0	0
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													2	4	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277919	139277919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr9:139277919delC	ENST00000298532.2	-	15	2070	c.1702delG	c.(1702-1704)acfs	p.D568fs		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	568					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGTCCATGTCCGGGACCATG	0.701													2	4	---	---	---	---					
TRPT1	83707	broad.mit.edu	37	11	63993265	63993265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:63993265delC	ENST00000394546.2	-	2	281	c.68delG	c.(67-69)cafs	p.R23fs	TRPT1_ENST00000541278.1_Frame_Shift_Del_p.R23fs|TRPT1_ENST00000540472.1_Intron|TRPT1_ENST00000546089.1_5'UTR|TRPT1_ENST00000317459.6_Frame_Shift_Del_p.R23fs|TRPT1_ENST00000394547.3_Intron	NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1	NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1	Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	23							tRNA 2'-phosphotransferase activity			lung(2)|skin(1)	3						CACCTGTTCTCGGGGTCTGGG	0.657													2	4	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													4	7	---	---	---	---					
TMEM5	10329	broad.mit.edu	37	12	64202671	64202676	+	In_Frame_Del	DEL	GTCCAT	GTCCAT	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr12:64202671_64202676delGTCCAT	ENST00000537373.1	+	6	1299_1304	c.351_356delGTCCAT	c.(349-357)aag>aa	p.KSM117del	TMEM5-AS1_ENST00000546214.1_RNA|TMEM5_ENST00000261234.6_In_Frame_Del_p.KSM377del	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	377						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGTTACTCAAGTCCATGGGTGCTCCC	0.427													42	51	---	---	---	---					
BLM	641	broad.mit.edu	37	15	91304286	91304288	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr15:91304286_91304288delTGA	ENST00000355112.3	+	7	1801_1803	c.1683_1685delTGA	c.(1681-1686)ttt>tt	p.FD561del	BLM_ENST00000560509.1_In_Frame_Del_p.FD561del	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	561	Poly-Asp.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGATGACTTTGATGATGATGAT	0.374			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				8	807	---	---	---	---					
LOC102723841	102723841	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													3	6	---	---	---	---					
SNORD3B-2	780852	broad.mit.edu	37	17	18967327	18967327	+	RNA	DEL	A	A	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:18967327delA	ENST00000364880.1	-	0	122																											gcaacgccagaaagccggctt	0.512													16	102	---	---	---	---					
SNORD3A	780851	broad.mit.edu	37	17	19091449	19091449	+	RNA	DEL	T	T	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr17:19091449delT	ENST00000365494.1	+	0	121																											tgaagccggctttctggcgtt	0.502													63	639	---	---	---	---					
SALL3	27164	broad.mit.edu	37	18	76753035	76753035	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr18:76753035delG	ENST00000536229.3	+	1	1354	c.645delG	c.(643-645)ccfs	p.P215fs	SALL3_ENST00000575389.2_Frame_Shift_Del_p.P348fs|SALL3_ENST00000537592.2_Frame_Shift_Del_p.P348fs			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	348	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCTGGCCCCGGGGTCCCTGC	0.771													2	4	---	---	---	---					
STRN4	29888	broad.mit.edu	37	19	47234012	47234013	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chr19:47234012_47234013insCA	ENST00000391910.3	-	6	1305_1306	c.855_856insTG	c.(853-858)gtagcafs	p.A286fs	STRN4_ENST00000539396.1_Frame_Shift_Ins_p.A167fs|STRN4_ENST00000263280.6_Frame_Shift_Ins_p.A286fs|CTB-174O21.2_ENST00000600716.1_RNA			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	286						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTCTTGTGCTGCACGCTGTCCA	0.629													43	47	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-GN-A262-06A-11D-A196-08	TCGA-GN-A262-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2399ab13-abfa-480e-9fda-7947edc420be	eb8c867e-d2da-48c7-bae7-5aea6d9aaf1d	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			10	33	---	---	---	---					
